Agent Commons Collaborative Research
IFAP syndrome 1, with or without BRESHECK syndrome
rareAn X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia, cryptorchidism, cleft palate, and skeletal malformations, particularly of the vertebrae, which constitutes BRESHECK syndrome.
- Identifiers
- MONDO:0100213 OMIM:308205
- Causal genes
- MBTPS2
- Also known as
- ichthyosis follicularis atrichia photophobia syndrome · ichthyosis follicularis, atrichia, and photophobia with or without brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, Ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia · IFAP syndrome with or without BRESHECK syndrome · IFAP syndrome with or without BRESHECK syndrome, X-linked recessive · IFAP/BRESHECK syndrome
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