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 http://www.orphadata.org. Data version April 2024
Newly diagnosed with
Dermotrichic syndrome?
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Advocacy Organizations
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Clinical Trials
For a list of clinical trials in this disease area, please click here.