Stature [1,5] (Short +, Normal -) |
+ |
- |
- |
+ |
- |
- |
- |
- |
+ |
+ |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
+ |
Eye |
Hypertelorism11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
+ |
+ |
+ |
- |
- |
+ |
+ |
+ |
+ |
- |
+ |
+ |
- |
- |
- |
- |
- |
+ |
+ |
- |
- |
Blepharophimosis11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Coloboma11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
+ |
- |
- |
Exophthalmos22 National Organization for Rare Disorders (NORD). Oral-Facial-Digital Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/oral-facial-digital-syndrome/ https://rarediseases.org/rare-diseases/o...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Seesaw winking22 National Organization for Rare Disorders (NORD). Oral-Facial-Digital Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/oral-facial-digital-syndrome/ https://rarediseases.org/rare-diseases/o...
,55 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/ https://www.ncbi.nlm.nih.gov/books/...
|
- |
- |
+ |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Epicanthus fold11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Telecanthus11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
Synophrys, Microphthalmia11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
,55 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/ https://www.ncbi.nlm.nih.gov/books/...
|
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
Retinal abnormalities11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
,55 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/ https://www.ncbi.nlm.nih.gov/books/...
|
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Epicanthus fold11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
+ |
Ptosis1313 National Organization for Rare Disorders (NORD). Joubert Syndrome. NORD; 2011 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/joubert-syndrome/ https://rarediseases.org/rare-diseases/j...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
+ |
Nystagmus1313 National Organization for Rare Disorders (NORD). Joubert Syndrome. NORD; 2011 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/joubert-syndrome/ https://rarediseases.org/rare-diseases/j...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
Oculomotor apraxia1313 National Organization for Rare Disorders (NORD). Joubert Syndrome. NORD; 2011 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/joubert-syndrome/ https://rarediseases.org/rare-diseases/j...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
Hypoplastic optic nerve1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
Strabismus1313 National Organization for Rare Disorders (NORD). Joubert Syndrome. NORD; 2011 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/joubert-syndrome/ https://rarediseases.org/rare-diseases/j...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
+ |
- |
- |
- |
Congenital cataracts1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
+ |
Blepharosis1616 National Organization for Rare Disorders (NORD). Smith Lemli Opitz Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/ https://rarediseases.org/rare-diseases/s...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
Microphthalmia1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
Nose |
Broad bifid tip1717 Dave KV, Patel SC, Dudhia BB, Panja P. Orofacial digital syndrome. Indian J Dent Res. 2013;24(1):132-5. http://dx.doi.org/10.4103/0970-9290.114920. PMid:23852247. http://dx.doi.org/10.4103/0970-9290.1149...
|
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Broad nasal root1717 Dave KV, Patel SC, Dudhia BB, Panja P. Orofacial digital syndrome. Indian J Dent Res. 2013;24(1):132-5. http://dx.doi.org/10.4103/0970-9290.114920. PMid:23852247. http://dx.doi.org/10.4103/0970-9290.1149...
|
- |
+ |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Bulbous nose11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
,55 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/ https://www.ncbi.nlm.nih.gov/books/...
|
- |
- |
+ |
+ |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
+ |
- |
Flat nasal root11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Hypoplasia of the alae1111 AlKattan WM, Al-Qattan MM, Bafaqeeh SA. The pathogenesis of the clinical features of oral-facial-digital syndrome type I. Saudi Med J. 2015;36(11):1277-84. http://dx.doi.org/10.15537/smj.2015.11.12446. PMid:26593159. http://dx.doi.org/10.15537/smj.2015.11.1...
|
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Hypoplastic nasal septum1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
Short nose upturned nostrils1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
+ |
Broad or flat nasal bridge1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
Nostrils turned forward1616 National Organization for Rare Disorders (NORD). Smith Lemli Opitz Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/ https://rarediseases.org/rare-diseases/s...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
Ear |
Hearing defects1717 Dave KV, Patel SC, Dudhia BB, Panja P. Orofacial digital syndrome. Indian J Dent Res. 2013;24(1):132-5. http://dx.doi.org/10.4103/0970-9290.114920. PMid:23852247. http://dx.doi.org/10.4103/0970-9290.1149...
|
+ |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Low set ears11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
,55 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/ https://www.ncbi.nlm.nih.gov/books/...
|
+ |
- |
+ |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
Abnormal inner ear11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Auricular pits & Deafness11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Malformed ear1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
Small ears rotated backwards1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
Large external ears1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
,1616 National Organization for Rare Disorders (NORD). Smith Lemli Opitz Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/ https://rarediseases.org/rare-diseases/s...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
-
|
- |
- |
- |
- |
- |
- |
- |
+ |
- |
+ |
Intra oral region: |
|
Palate |
Cleft palate11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
,1717 Dave KV, Patel SC, Dudhia BB, Panja P. Orofacial digital syndrome. Indian J Dent Res. 2013;24(1):132-5. http://dx.doi.org/10.4103/0970-9290.114920. PMid:23852247. http://dx.doi.org/10.4103/0970-9290.1149...
|
+ |
+ |
+ |
+ |
- |
+ |
+ |
+ |
+ |
+ |
+ |
- |
+ |
+ |
+ |
- |
- |
+ |
+ |
- |
+ |
Lip |
Median cleft lip1717 Dave KV, Patel SC, Dudhia BB, Panja P. Orofacial digital syndrome. Indian J Dent Res. 2013;24(1):132-5. http://dx.doi.org/10.4103/0970-9290.114920. PMid:23852247. http://dx.doi.org/10.4103/0970-9290.1149...
|
+ |
+ |
+ |
+ |
+ |
+ |
- |
+ |
+ |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
+ |
+ |
Cleft lip11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
+ |
+ |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
+ |
+ |
- |
- |
Short upper lip1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Midline long vertical groove in upper lip1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
Long inverted V shape upper lip1616 National Organization for Rare Disorders (NORD). Smith Lemli Opitz Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/ https://rarediseases.org/rare-diseases/s...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
Tongue |
Cleft11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
Lobulated tongue11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
+ |
+ |
+ |
+ |
- |
+ |
- |
+ |
+ |
- |
- |
- |
- |
+ |
+ |
- |
- |
+ |
+ |
+ |
- |
Bifid or Trifid11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
Lingual hamartomas11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
+ |
+ |
+ |
+ |
- |
+ |
+ |
+ |
+ |
+ |
- |
- |
+ |
+ |
- |
+ |
- |
- |
+ |
+ |
- |
Ankyloglossia1919 Dhull KS, Acharya S, Mohanty M, Dhull RS, Panda S. Oro-facial-digital syndrome type I: a case report. J Indian Soc Pedod Prev Dent. 2014;32(2):152-5. http://dx.doi.org/10.4103/0970-4388.130980. PMid:24739916. http://dx.doi.org/10.4103/0970-4388.1309...
|
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Bifid uvula11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
Cleft epiglottis1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
Microglossia1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
Cleft or fissure in the larynx1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
Epiglottis hypoplasia11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
,55 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/ https://www.ncbi.nlm.nih.gov/books/...
|
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Bifid epiglottis1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
Inflexible epiglottis11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
,22 National Organization for Rare Disorders (NORD). Oral-Facial-Digital Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/oral-facial-digital-syndrome/ https://rarediseases.org/rare-diseases/o...
|
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Gingiva |
Gingival Frenulae11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
+ |
+ |
- |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
- |
+ |
+ |
- |
+ |
+ |
- |
+ |
- |
Labiogingival adherence1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Submucosal clefts1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Labial vestibule obliteration1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Buccal frenula1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
Abnormal gums1616 National Organization for Rare Disorders (NORD). Smith Lemli Opitz Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/ https://rarediseases.org/rare-diseases/s...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
Dentition |
Missing teeth1717 Dave KV, Patel SC, Dudhia BB, Panja P. Orofacial digital syndrome. Indian J Dent Res. 2013;24(1):132-5. http://dx.doi.org/10.4103/0970-9290.114920. PMid:23852247. http://dx.doi.org/10.4103/0970-9290.1149...
|
+ |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Supernumerary teeth11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
+ |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
Diastema1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Conical teeth1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Natal teeth1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
Neonatal teeth1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
,1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
+ |
- |
- |
Hypodontia1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Enamel dysplasia1111 AlKattan WM, Al-Qattan MM, Bafaqeeh SA. The pathogenesis of the clinical features of oral-facial-digital syndrome type I. Saudi Med J. 2015;36(11):1277-84. http://dx.doi.org/10.15537/smj.2015.11.12446. PMid:26593159. http://dx.doi.org/10.15537/smj.2015.11.1...
|
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Enamel hypoplasia11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
+ |
- |
- |
Tooth malformations22 National Organization for Rare Disorders (NORD). Oral-Facial-Digital Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/oral-facial-digital-syndrome/ https://rarediseases.org/rare-diseases/o...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Premature eruption1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Premature exfoliation1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Mandible |
Hypoplastic mandible1717 Dave KV, Patel SC, Dudhia BB, Panja P. Orofacial digital syndrome. Indian J Dent Res. 2013;24(1):132-5. http://dx.doi.org/10.4103/0970-9290.114920. PMid:23852247. http://dx.doi.org/10.4103/0970-9290.1149...
|
+ |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Micrognathia1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
|
+ |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
+ |
- |
- |
Retrognathia11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
Short mandible1616 National Organization for Rare Disorders (NORD). Smith Lemli Opitz Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/ https://rarediseases.org/rare-diseases/s...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
Jaw winking22 National Organization for Rare Disorders (NORD). Oral-Facial-Digital Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/oral-facial-digital-syndrome/ https://rarediseases.org/rare-diseases/o...
|
|
|
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Digits [Hands &Feet] |
Brachydactyly11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
+ |
+ |
- |
+ |
- |
+ |
- |
- |
+ |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
Clinodactyly11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
+ |
+ |
- |
+ |
- |
+ |
+ |
- |
+ |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
+ |
- |
- |
Polydactyly11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
+ |
+ |
+ |
+ |
+ |
+ |
- |
+ |
+ |
+ |
+ |
+ |
- |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
+ |
Syndactyly11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
+ |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
+ |
+ |
+ |
Oligodactyly11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Others systems |
Skin |
Milia55 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/ https://www.ncbi.nlm.nih.gov/books/...
|
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Hair |
Thick hair11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
Thin dry hair1111 AlKattan WM, Al-Qattan MM, Bafaqeeh SA. The pathogenesis of the clinical features of oral-facial-digital syndrome type I. Saudi Med J. 2015;36(11):1277-84. http://dx.doi.org/10.15537/smj.2015.11.12446. PMid:26593159. http://dx.doi.org/10.15537/smj.2015.11.1...
|
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Alopecia1111 AlKattan WM, Al-Qattan MM, Bafaqeeh SA. The pathogenesis of the clinical features of oral-facial-digital syndrome type I. Saudi Med J. 2015;36(11):1277-84. http://dx.doi.org/10.15537/smj.2015.11.12446. PMid:26593159. http://dx.doi.org/10.15537/smj.2015.11.1...
|
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
|
- |
- |
- |
- |
Photosensitivity1616 National Organization for Rare Disorders (NORD). Smith Lemli Opitz Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/ https://rarediseases.org/rare-diseases/s...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
CNS |
Mental retardation11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
,1717 Dave KV, Patel SC, Dudhia BB, Panja P. Orofacial digital syndrome. Indian J Dent Res. 2013;24(1):132-5. http://dx.doi.org/10.4103/0970-9290.114920. PMid:23852247. http://dx.doi.org/10.4103/0970-9290.1149...
|
+ |
+ |
+ |
+ |
+ |
+ |
- |
+ |
- |
- |
- |
+ |
- |
+ |
+ |
- |
- |
+ |
- |
- |
+ |
Epilepsy22 National Organization for Rare Disorders (NORD). Oral-Facial-Digital Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/oral-facial-digital-syndrome/ https://rarediseases.org/rare-diseases/o...
,55 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/ https://www.ncbi.nlm.nih.gov/books/...
,1616 National Organization for Rare Disorders (NORD). Smith Lemli Opitz Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/ https://rarediseases.org/rare-diseases/s...
,1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
+ |
+ |
Intellectual disability11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
,55 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/ https://www.ncbi.nlm.nih.gov/books/...
|
- |
- |
+ |
- |
- |
- |
+ |
+ |
- |
- |
+ |
- |
- |
+ |
+ |
- |
- |
- |
- |
- |
- |
Psychomotor retardation22 National Organization for Rare Disorders (NORD). Oral-Facial-Digital Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/oral-facial-digital-syndrome/ https://rarediseases.org/rare-diseases/o...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Macrocephaly11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Microcephaly1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
,1616 National Organization for Rare Disorders (NORD). Smith Lemli Opitz Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/ https://rarediseases.org/rare-diseases/s...
,1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
+ |
+ |
Neuropsychiatric troubles11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
Encephalocele1313 National Organization for Rare Disorders (NORD). Joubert Syndrome. NORD; 2011 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/joubert-syndrome/ https://rarediseases.org/rare-diseases/j...
,1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
+ |
- |
- |
Hydrocephaly1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
,1616 National Organization for Rare Disorders (NORD). Smith Lemli Opitz Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/ https://rarediseases.org/rare-diseases/s...
,1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
+ |
+ |
Anencephaly1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
,1616 National Organization for Rare Disorders (NORD). Smith Lemli Opitz Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/ https://rarediseases.org/rare-diseases/s...
,1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
+ |
+ |
Cerebellar vermis agenesis1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
+ |
Malformed hypothalamus1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
CVS |
Coarctation of the aorta11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
Single atrium1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Defects of the mitral and tricuspid valves1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Patent ductus arteriosus1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
+ |
- |
- |
Septum hypertrophy11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Valve dysplasia11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
Ventricular septal defect11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
+ |
- |
+ |
- |
- |
Atrial septal defect1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
,1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
+ |
- |
- |
Hypoplastic left heart syndrome1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Congenital heart defects1616 National Organization for Rare Disorders (NORD). Smith Lemli Opitz Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/ https://rarediseases.org/rare-diseases/s...
,1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
+ |
Kidney |
Kidney absent55 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/ https://www.ncbi.nlm.nih.gov/books/...
,1313 National Organization for Rare Disorders (NORD). Joubert Syndrome. NORD; 2011 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/joubert-syndrome/ https://rarediseases.org/rare-diseases/j...
|
+ |
- |
+ |
+ |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Polycystic kidney disease11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
+ |
- |
+ |
+ |
- |
- |
+ |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
+ |
+ |
- |
Renal dysplasia11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
,55 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/ https://www.ncbi.nlm.nih.gov/books/...
|
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
+ |
- |
- |
Renal failure11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
Fused kidneys11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
Agenesis of kidney1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
Liver |
Macrocysts55 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/ https://www.ncbi.nlm.nih.gov/books/...
|
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Fibrosis22 National Organization for Rare Disorders (NORD). Oral-Facial-Digital Syndrome. NORD; 2007 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/oral-facial-digital-syndrome/ https://rarediseases.org/rare-diseases/o...
,1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
Pancreas |
Macrocysts55 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/ https://www.ncbi.nlm.nih.gov/books/...
|
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Ovary |
Macrocysts55 Toriello HV, Franco B, Bruel AL, et al. GeneReviews® Oral-facial-digital syndrome type I. Seattle: University of Washington; 2002 [cited 2020 October 17]. Available from: https://www.ncbi.nlm.nih.gov/books/ https://www.ncbi.nlm.nih.gov/books/...
|
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Skeletal system |
Y-shaped metacarpal11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
+ |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
Tibia abnormalities11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
+ |
- |
- |
- |
+ |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Radius hypoplasia11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
+ |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Fibular agenesis11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Vertebral abnormalities11 Franco B, Thauvin-Robinet C. Update on oral-facial-digital syndromes (OFDS). Cilia. 2016;5(1):12. http://dx.doi.org/10.1186/s13630-016-0034-4. PMid:27141300. http://dx.doi.org/10.1186/s13630-016-003...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Shortening of the middle and distal phalanges1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Deformity of the knees or lumbar lordosis1515 Kamal R, Dahiya P, Kaur S, Bhardwaj R, Chaudhary K. Ellis-van Creveld syndrome: a rare clinical entity. J Oral Maxillofac Pathol. 2013;17(1):132-5. http://dx.doi.org/10.4103/0973-029X.110716. PMid:23798848. http://dx.doi.org/10.4103/0973-029X.1107...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
- |
- |
Bowing of the long bones of limbs1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |
- |
Talipes equinovarus1414 National Organization for Rare Disorders (NORD). Meckel Syndrome. NORD; 2020 [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/meckel-syndrome/ https://rarediseases.org/rare-diseases/m...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
Abnormally short arms and/or legs and/or dislocated hips1818 National Organization for Rare Disorders (NORD). Pallister-Hall Syndrome. NORD; 2019. [cited 2020 October 17]. Available from: https://rarediseases.org/rare-diseases/pallister-hall-syndrome/ https://rarediseases.org/rare-diseases/p...
|
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
- |
+ |
- |