|
Fibrochondrogenesis I
(# 228520)
|
Rhizomelia, omphalocele, medial cleft palate, abnormal and flat nose |
Enlarged metaphysis of the long bones,vertebrae in “pear” shape |
COL11A1
|
AR(recessive) |
|
Fibrochondrogenesis II
(# 614524)
|
Midface hypoplasia, small and anteverted nostrils, short long bones, normal size of hands and feet, small thorax |
Enlarged metaphysis of the long bones, short long bones, hypoplastic posterior vertebrae body, small thorax |
COL11A2
|
AD(dominant)AR |
|
Atelosteogenesis type I
(# 108720)
|
Hypertelorism, flat nose, hypoplastic median face, equinovarus, and polidramnia |
Abscent humerus and fibula, 11 ribs, hypoplastic isquium pubis, delayed proximal and medial phalangeal ossification |
FLNB
|
AD |
|
Atelosteogenesis type II (# 256050)
|
Hypertelorism, flat nose, cleft palate, short neck, “sandal” gap between 1 and 2 toes, ulnar deviation of the thumbs |
Platyspondylia, cervical kyphos, short ribs, dysplastic vertebrae, bifid humerus, glenoid hypoplasia |
SLC26A2
|
AR |
|
Atelosteogenesis type III
(# 108721)
|
Polydactyly, narrow auditory conduit, hydrocephalus, low set ears |
Better vertebrae ossification, uniformed ossified fibula, metacarpals and phalanges |
FLNB
|
AD |
|
Boomerang dysplasia
(# 112310)
|
Hypertelorism, flat nose, hypoplastic nasal septum, short neck with loose skin, brachydactyly, hypoplastic nails |
Delayed cranium ossification, “boomerang” shape of the femur |
FLNB
|
AD |
|
Short-rib syndrome type I
(# 208500)
|
Preaxial polydactyly, syndactyly, hypoplastic penis and imperforate anus |
Metaphyseal irregularities of the long bones with terminal “spikes,” small iliac bone, horizontal acetabular shaft, short and horizontal ribs |
Not defined
|
AR |
|
Short-rib syndrome type II
|
Medial cleft face, cleft palate, low set ears, brachydactyly, abnormal genitalia |
Narrow thorax, short and horizontal ribs, highly inserted clavicle, oval tibia, premature ossification of humeral epiphysis |
IFT80
|
AR |
|
Short-rib syndrome type III
(# 613091)
|
Short limbs, narrow and cylindrical thorax, short stature |
Bowed femur and tibia, enlarged metaphysis with “spikes,” square iliac bone |
DYNC2H1
|
DR(digenic recessive)AR |
|
Short-rib syndrome type IV
(# 613819)
|
Short stature, short limbs, narrow and cylindrical thorax |
Short and horizontal ribs, highly inserted clavicles and small scapulae, bowed radium and humerus |
TTC21B
|
AR |
