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Borjeson-Forssman-Lehmann syndrome

Synonyms
BORJESON SYNDROME; MENTAL RETARDATION, EPILEPSY, AND ENDOCRINE DISORDERS; MENTAL RETARDATION, X-LINKED, SYNDROMIC, BORJESON-FORSSMAN-LEHMANN TYPE; Mental deficiency, epilepsy and endocrine disorders
Modes of inheritance
X-linked recessive inheritance (Orphanet)

Summary

Borjeson-Forssman-Lehmann syndrome (BFLS) is an uncommon X-linked intellectual developmental disorder that evolves with age. Clinical manifestations in males are quite variable, with the most consistent features being initial hypotonia, mild to moderate impaired intellectual development, large fleshy ears, underdeveloped genitalia, gynecomastia, truncal obesity, tapering fingers, and shortening of the fourth and fifth toes. Heterozygous females may have a milder similar clinical phenotype, which can include hypothyroidism; however, many carrier females appear unaffected (summary by Crawford et al., 2006). [from OMIM]

Available tests

56 tests are in the database for this condition.

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Clinical tests (56 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BFLS, BORJ, CENP-31, PHF6
    Summary: PHD finger protein 6

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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