A kindred with a distal arthrogryposis (DA) can be further classified based on the phenotypic features present. The authors are from the University of Utah.
Patient selection:
(1) meets the criteria for a distal arthrogryposis
(2) at least one member of kindred must show the distinguishing traits for the particular type
|
Phenotypic Features |
Type |
|
fingers clenched into fist at birth; ulnar deviation; hypoplastic or absent flexion creases; camptodactyly; positional foot deformities; congenital hip dislocation; gene maps to the DA1A locus on chromosome 9 |
DA1A |
|
as for DA1A but the gene does not map to the DA1A locus on chromosome 9 |
DA1B |
|
Freeman-Sheldon syndrome (small mouth with pursed lips; paramedian grooves between lower lip and tip of chin; down slanting palpebral fissures; hypoplastic alae nasi; prominent nasolobial folds; long philtrum; scoliosis; web neck) |
DA2A |
|
less severe than DA2A; ulnar deviation; severe camptodactyly; triangular nasolabial folds; downslanting palpebral fissures; small mouth; prominent chin; maps to chromosome 11p15.5 |
DA2B |
|
Gordon syndrome (short stature; cleft palate; variable bifid uvula; ptosis; epicanthal folds; mild facial asymmetry; short neck) |
DA3 |
|
scoliosis most prominent feature |
DA4 |
|
short stature; short neck; ptosis; facial immobility; variable keratoconus; ophthalmoplegia; ptosis; tapering fingers; camptodactyly |
DA5 |
|
sensorineural hearing loss; distal contractures limited to upper limbs |
DA6 |
|
Hecht's syndrome (trismus and pseudo-camptodactyly = TPC; short stature) |
DA7 |
|
autosomal dominant multiple pterygium syndrome; short stature; scoliosis; distinctive facial features |
DA8 |
|
Beals congenital contractural arachnodactyly (CCA); marfanoid habitus; crumpled external ear; camptodactyly; foot deformities; proximal joint involvement |
DA9 |
where:
• Camptodactyly = permanent flexion of one or more fingers
Specialty: Surgery, orthopedic, Genetics, Pedatrics
