Goodman syndrome

Orpha code: 65798OMIM code: 201020

Definicja

A rare syndromic trigonocephaly characterized by marked malformations of the head and face (essentially acrocephaly), broad depressed nasal bridge, narrow maxillae, abnormalities of the hands and feet (polydactyly, brachydactyly, syndactyly, clinodactyly, camptodactyly, ulnar deviation), obesity and congenital heart disease. This disease is considered a variant of Carpenter syndrome without intellectual disability. There have been no further descriptions in the literature since 1992.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
ACPS4
ACPS4
Akrocefalopolisyndaktylia typu 4
Acrocephalopolysyndactyly type 4
Kod ORPHA
65798
Kod OMIM
201020
Kod ICD10
Q87.0
Kod ICD11
-

No additional description.

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