/IFAP syndrome 1, with or without BRESHECK syndrome

IFAP syndrome 1, with or without BRESHECK syndrome

Rare Disease

MONDO:0100213

Also Known As

ichthyosis follicularis-alopecia-photophobia syndromeIFAP syndrome with or without BRESHECK syndromeIFAP syndrome with or without BRESHECK syndrome, X-linked recessiveIFAP/BRESHECK syndromeichthyosis 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/hypoplasiaichthyosis follicularis atrichia photophobia syndrome

Definition

An 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.