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IFAP syndrome 1, with or without BRESHECK syndrome

Synonyms
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 1; IFAP syndrome with or without BRESHECK syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)
X-linked recessive inheritance (Orphanet)
Not genetically inherited (Orphanet)

Summary

The IFAP/BRESHECK syndrome is 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 (summary by Naiki et al., 2012). Genetic Heterogeneity of IFAP Syndrome IFAP syndrome-2 (IFAP2; 619016) is caused by heterozygous mutation in the SREBF1 gene (184756) on chromosome 17p11. [from OMIM]

Available tests

37 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (37 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BRESEK, IFAP, KFSD, KFSDX, OI19, OLMSX, S2P, MBTPS2
    Summary: membrane bound transcription factor peptidase, site 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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