Anonychia-electrodactyly syndrome Q73.8
Synonym(s)
Anonychia-Ectrodactyly; ectronychia syndrome
History
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Lees et al., 1957
Definition
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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.
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Etiopathogenesis
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Autosomal dominant hereditary disorder with variable expressivity but complete penetrance.
Clinic
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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 diagnosis
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Nail-patella syndrome, amniotic band defects, popliteal pterygium syndrome ( Fèvre-Languepin syndrome).
Literature
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- Lees DH, Lawler SD, Renwick JH, Thoday JM (1957) Anonychia with ectrodactyly: clinical and linkage data. Ann Hum Genet 22: 69-79
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Ectronychia syndrome;Disclaimer
Please ask your physician for a reliable diagnosis. This website is only meant as a reference.
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Prof. Dr. med. Peter Altmeyer