MeSH Browser

MeSH Supplementary: Ichthyosis follicularis atrichia photophobia syndrome
Unique ID: C536085
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/C536085
Entry Term(s): IFAP syndrome Ichthyosis follicularis atrichia photophobia syndrome; Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome; Ifap syndrome with or without Bresheck syndrome
Heading Mapped to: *Alopecia; *Ichthyosis; *Photophobia
Frequency: 24
Note: A rare X-linked recessive disorder characterized by the triad of ichthyosis follicularis, alopecia, and photophobia from birth and primarily affecting males; female carriers may develop some milder clinical features. Some patients may also have intellectual disability, brain anomalies, HIRSCHSPRUNG DISEASE; CORNEAL OPACITY, kidney dysplasia, CRYPTORCHIDISM; CLEFT PALATE, and skeletal malformations, particularly of the vertebrae, which constitutes Brescheck Syndrome. Mutations in the MBTPS2 gene have been identified. OMIM: 308205
Date of Entry: 2010/08/25
Revision Date: 2019/06/20

Ichthyosis follicularis atrichia photophobia syndrome MeSH Supplementary Concept Data 2024