Trichorhinophalangeal syndrome type 1: A rare genetic disorder characterized by bulbous nose, sparse hair and coning of epiphyses. More detailed information about the symptoms, causes, and treatments of Trichorhinophalangeal syndrome type 1 is available below.
See full list of 23 symptoms of Trichorhinophalangeal syndrome type 1
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See full list of 11 occasional symptoms of Trichorhinophalangeal syndrome type 1
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Cone-shaped epiphyses, sparse hypopigmented hair, bulbous nose, variable growth retardation, and occasional mental retardation. - (Source - Diseases Database)
Ophanet, a consortium of European partners,
currently defines a condition rare when it affects 1 person per 2,000.
They list Trichorhinophalangeal syndrome type 1 as a "rare disease".
Source - Orphanet
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