Blepharophimosis With Ptosis, Syndactyly, And Short Stature

Clinical Features

In a family of Yemenite Jewish extraction, Frydman et al. (1992) described an autosomal recessive syndrome of blepharophimosis and ptosis with weakness of extraocular and frontal muscles. Prognathism, synophrys, and thick eyebrows added to a typical facial appearance. Additional findings included short stature and syndactyly of toes 2 and 3. Borderline mental retardation and anosmia was found in 1 patient. The clinical features and particularly the mode of inheritance distinguished this syndrome from other blepharophimosis-ptosis syndromes (e.g., 110100).

Madasseri et al. (2003) described 2 brothers with congenital ptosis and esotropia, 1 of whom also had bilateral accessory nipples. The constellation of clinical features showed significant overlap with the pedigree reported by Frydman et al. (1992), although it lacked the blepharophimosis, short stature, and syndactyly. Madasseri et al. (2003) stated that these 2 brothers might share the same condition reported by Frydman et al. (1992) or might represent a 'new,' possibly X-linked, phenotype of congenital ptosis with esotropia.

Inheritance

The transmission pattern of blepharophimosis with ptosis, syndactyly, and short stature in the family described by Frydman et al. (1992) was consistent with autosomal recessive inheritance.