Trichorhinophalangeal syndrome type 1 and 3

Orpha code: 77258OMIM code: 190351

Definition

A rare genetic disease characterized by sparse scalp hair, lateral thinning of eyebrows, mild facial dysmorphism (bulbous tip of the nose, long flat philtrum, thin upper lip vermilion, and protruding ears), and skeletal anomalies including cone-shaped phalangeal epiphyses, hip dysplasia, and short stature. Type 3 can be differentiated by the presence of severe brachydactyly due to short metacarpals. Cartilaginous exostoses are not present in both types.

Disease data
Classification

Malformation syndrome

ORPHA code
77258
OMIM code
190351
ICD10 code
Q87.1
ICD11 code
-

No additional description.

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