Search
Borjeson-Forssman-Lehmann syndrome
Epidemiology: rare
Genetics:
- X-linked recessive
- associated with defects in the PHD finger protein 6 (PHF6)
Clinical manifestations:
- mental defect, learning disability
- epilepsy
- hypogonadism, gynecopmastia in males
- hypometabolism
- obesity
- short stature
- facial edema (subcutaneous)
- narrow palpebral fissure
- large ears
- but not deformed ears
- carriers may have moderate mental retardation
- child appears abnormal with failure to thrive by 1 year
- life-expectancy not known but affected individuals may live > 30 years
Differential diagnosis:
- Prader-Willi syndrome
- Coffin-Lowry syndrome
- Bardet-Biedl syndrome
Related
PHD finger protein 6; PHD-like zinc finger protein (PHF6, KIAA1823)
General
genetic syndrome (multisystem disorder)
Database Correlations
OMIM 301900
References
OMIM :accession 301900