has material basis in germline mutation in MBTPS2 obsolete malformation syndrome with skin/mucosae involvement X-linked ichthyosis syndrome X-linked recessive disease obsolete hereditary alopecia IFAP syndrome IFAP syndrome 1, with or without BRESHECK syndrome https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/7116 https://www.malacards.org/card/ifap_syndrome_1_with_or_without_bresheck_syndrome IFAP/BRESHECK syndrome GARD:0015297 OMIM:308205 IFAP syndrome with or without BRESHECK syndrome, X-linked recessive 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 DOID:0111821 UMLS:C5399971 MEDGEN:1746744 ichthyosis follicularis-alopecia-photophobia syndrome MONDO:0100213 NANDO:2200999 IFAP syndrome with or without BRESHECK syndrome 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. MESH:C536085