Autosomal recessive amelia

Orpha code: 1027OMIM code: 601360

Definicja

A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root, upturned nose, infra-orbital creases, prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.

Disease data
Klasyfikacja

Malformation syndrome

Kod ORPHA
1027
Kod OMIM
601360
Kod ICD10
Q73.0
Kod ICD11
-

No additional description.

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