Gordon syndrome
MIM.114300
DA3: distal arthrogryposis type 3
Autosomal dominant malformative syndrome associating distal arthrogryposis, camptodactyly, cleft palate and club-foot.
Synopsis
craniofacial anomalies
- ptosis
- epicanthal folds
- cleft palate
- submucous cleft
- bifid uvula
- short neck
- mild neck webbing
skeletal anomales
- sloping shoulders
- lumbar lordosis
- kyphoscoliosis
- congenital hip dislocation
- limited hip abduction
- knee flexion contractures
- short fingers
- hand camptodactyly of proximal interphalangeal joint
- ulnar deviation
- cutaneous syndactyly
- single transverse palmar creases
- talipes equinovarus
- foot camptodactyly
Single transverse palmar creases
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