Trikorhinofalangealt syndrom Type 2

Også kjent som: TRPS 2
Engelsk navn: Trichorhinophalangeal syndrome type 2
Engelske synonym: Langer-Giedion syndrome


A rare multiple congenital anomalies syndrome characterized by intellectual disability, short stature, sparse and depigmented scalp hair, typical facial characteristics (broad eyebrows, especially the medial portion, broad nasal ridge and tip, underdeveloped nasal alae, long philtrum, thin upper lip vermilion, and protruding ears), limb anomalies (brachydactyly, short metacarpals and metatarsals, cone-shaped phalangeal epiphyses, dystrophic nails, and hip dysplasia) and multiple cartilaginous exostoses.

Fra Orphanet

ORPHA: 502
Klassifiseringsnivå: Disorder
ICD-10: Q87.8

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