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IFAP syndrome 1, with or without BRESHECK syndrome

MONDO:0100213

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.

Also known as: ichthyosis follicularis-alopecia-photophobia syndrome, IFAP syndrome with or without BRESHECK syndrome, IFAP syndrome with or without BRESHECK syndrome, X-linked recessive, IFAP/BRESHECK 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, ichthyosis follicularis atrichia photophobia syndrome

10 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Hereditary disease (172) Skin disorder (123) Syndromic disease (24) X-linked disease (16) Human disease (14) Ichthyosis (11) Hereditary skin disorder (5) Inherited ichthyosis (5) Disease of genetic or genomic mechanism (2)
Trials to join now! 4 Not yet recruiting 1 Not yet finished but already full! 2 Completed 2 Terminated 1
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