Clinical features involve head and face (simian
crease seizures; expressionless facies; micrognathia; prominent forehead; large
dysplastic ears; microphthalmia; strabismus; hypertelorism; corneal opacity;
cataract, heterochromia; everted lips; highly arched or cleft palate and
stretched) and skeleton (short neck; thin, elongated trunk; pectus carinatum;
camptodactyly; clinodactyly; short metacarpal and metatarsal bones; absent
or dysplastic patellae; multiple joint contractures; coxa valga; abnormal
diaphyses and epiphyses of radial, femoral, and humeral bone;
kyphoscoliosis, hemivertebrae; fusion of vertebrae; spina bifida; broad
dorsal ribs). Abdominal and pelvic organs (hydronephrosis, ureteral reflux, cryptorchidism,
malrotation or absence of gallbladder, jejunal duplication, gastric sarcoma)
and thoracic organs (cardiac septal defects and great vessel anomalies) can present
malformations. Deep palmar and plantar furrows are frequent.