Schilbach and Rott described a rare genetic disorder with an uncertain genetic basis.

Synonym: blepharofacioskeletal syndrome


Inheritance: autosomal dominant


Gene: uncertain; may involve the PTCH1 gene at 9q22


Key features:

(1) ocular hypotelorism

(2) cleft palate

(3) hypospasias

(4) microcephaly


Additional findings may include:

(1) blepharophimosis (an underdevelopment of the eyelids)

(2) upslant of palpebral fissures or epicanthal folds

(3) cutaneous syndactyly of third and fourth fingers

(4) cutaneous syndactyly of second and third toes

(5) mild mental retardation

(6) high-arched palate

(7) micrognathia

(8) posteriorly rotated or hypoplastic ears

(9) prominent nose

(10) bifid uvual

(11) small mouth

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