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

More general terms

• genetic syndrome (multisystem disorder)

Additional terms

• PHD finger protein 6; PHD-like zinc finger protein (PHF6, KIAA1823)

Database

• OMIM: https://mirror.omim.org/entry/301900