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Ichthyosis follicularis atrichia photophobia syndrome MeSH Supplementary Concept Data 2024


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
Registry Number
0
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 Preferred
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