Anonychia-electrodactyly syndromeQ73.8
Synonym(s)
Anonychia-Ectrodactyly; ectronychia syndrome
HistoryThis section has been translated automatically.
Lees et al., 1957
DefinitionThis section has been translated automatically.
Probably belonging to the group of ectodermal dysplasias with the combination of nail defects and malformations of the hand, the distinction as an independent entity from EEC syndrome is doubted by some authors.
EtiopathogenesisThis section has been translated automatically.
Autosomal dominant hereditary disorder with variable expressivity but complete penetrance.
Clinical featuresThis section has been translated automatically.
Nail dys- and aplasia of the index, middle finger and thumb. Toenails show similar defects. Symphalangia of the terminal interphalangeal joints of nailless fingers; missing extension wrinkles over the terminal interphalangeal joints. Asymmetrical absence of individual fingers, mostly medial finger rays are affected; syndactyly; polydactyly (mostly postaxial), toes affected in a similar way; no further skeletal dysplasias.
Differential diagnosisThis section has been translated automatically.
Nail-patella syndrome, amniotic band defects, popliteal pterygium syndrome ( Fèvre-Languepin syndrome).
LiteratureThis section has been translated automatically.
- Lees DH, Lawler SD, Renwick JH, Thoday JM (1957) Anonychia with ectrodactyly: clinical and linkage data. Ann Hum Genet 22: 69-79