IFAP syndrome 1, 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.
MONDO:0015331
obsolete malformation syndrome with skin/mucosae involvement (obsolete MONDO:0015331)
excluded_subClassOf
MONDO:0017269
X-linked ichthyosis syndrome
excluded_subClassOf
MONDO:0021034
obsolete hereditary alopecia (obsolete MONDO:0021034)
excluded_subClassOf
MONDO:0020605
X-linked recessive disease
is_a
MONDO:0100212
IFAP syndrome
is_a
IFAP syndrome with or without BRESHECK syndrome
exact
IFAP syndrome with or without BRESHECK syndrome, X-linked recessive
exact
IFAP/BRESHECK syndrome
exact
ichthyosis follicularis atrichia photophobia syndrome
related
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
exact
ichthyosis follicularis-alopecia-photophobia syndrome
broad