Fine–Lubinsky syndrome

Fine–Lubinsky syndrome is a rare genetic disorder which is characterized by ocular and hearing problems, speech and developmental delay, short stature, intellectual disabilities and facial dysmorphisms.

Presentation

Symptoms may vary from person to person, but they generally are :

Intellectual disabilities of varying degree
Congenital hearing loss
Congenital cataracts and/or glaucoma
Brachycephaly
Brain abnormalities
Finger abnormalities
Cleft palate
Flat face
Ptosis
Long philtrum
Small mouth
Short nose
Microstomia
Scrotum hypoplasia

Etiology

Although most cases of Fine–Lubinsky syndrome are sporadic, a case report of two siblings with this syndrome was published, suggesting that it is caused by autosomal recessive mutations in the MAF gene.