Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome

Orpha code: 1321OMIM code: 211930

Definition

An extremely rare chondrodysplastic malformation syndrome characterized by the combination of arachnodactyly, becoming evident at around the age of 10, camptodactyly, and scoliosis. Additional reported manifestations include a mild intellectual disability and a mild facial dysmorphism including a broad nose and flaring nostrils. There have been no further descriptions in the literature since 1972.

Disease data
Classification

Malformation syndrome

Synonyms
Goodman camptodactyly
Kamptodaktylia Goodmana
Zespół kamptodaktylii-przerostu tkanki włóknistej-wad układu szkieletowego
ORPHA code
1321
OMIM code
211930
ICD10 code
Q87.2
ICD11 code
-

No additional description.

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