Dermotrichic syndrome

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Dermotrichic syndrome

A rare genetic ectodermal dysplasia syndrome characterized by skin hair and nail anomalies (i.e. generalized ichthyosis congenital alopecia universalis dystrophic convex nails) associated with hypohidrosis without hyperthermia intellectual disability seizures and skeletal (e.g. proportionate short stature platyspondyly) and intestinal (e.g. congenital aganglionic megacolon) anomalies. Facial dysmorphism includes frontal bossing blepharophimosis large ears low nasal bridge and small nose. There have been no further descriptions in the literature since 1992.

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 April 2024

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