Trichorhinophalangeal syndrome type 2

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Trichorhinophalangeal syndrome type 2

Synonyms: 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.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version February 2024

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Trichorhinophalangeal syndrome type 2?

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