Borjeson-Forssman-Lehmann syndrome

Borjeson-Forssman-Lehman syndrome is an X-linked recessive disorder with characteristic symptoms such as mental retardation, torsal obesity, hypogonadism, and specific facial features. 

The syndrome primarily affects male patients, women usually remain symptom-free or suffer from more severe symptoms. In total, only 50 cases have been described so far.

The disease manifests itself in the neonatal period through hypotonia and drinking weakness. In time, any existing developmental problems become apparent. 

The other symptoms vary greatly from patient to patient. Only the characteristic facial features are common to all concerned. These include deep-set eyes, a narrow forehead, ptosis, fleshy ear lobes and supraorbital lumbars.

The disease is caused by mutations in the PHF6 gene (Xq26), whose gene product is involved in cell growth and proliferation. In addition to typical familial cases, some sporadic cases have also been observed in which the etiology is unknown.