Fraser syndrome

Fraser syndrome (also known as cryptophthalmos–syndactyly syndrome or cyclopism) is a very rare genetic disorder characterized by partial fusion of the fingers and toes (syndactyly), abnormalities of the kidneys and genital organs, and the presence of cryptophthalmos, which is a defect in the separation of the eyelids during development.

The skin may extend continuously from the forehead over the face, which is often associated with severe abnormalities in eye development and may lead to blindness. This syndrome is caused by an autosomal recessive mutation in the FRAS1 gene. A proportion of affected individuals die within the first year of life due to renal failure.

Diagnosis

Typical manifestations of the disease may already be evident on prenatal ultrasound examination. After birth, diagnosis is based on physical examination, which reveals the characteristic symptoms, as well as family history. Organ abnormalities may be visualized using ultrasound and other imaging methods.

Treatment

Some abnormalities can be treated surgically; otherwise, treatment is symptomatic and supportive.

• cryptophthalmos (abnormal development of the eyelids)
• microphthalmia (reduced size of the eyes)
• anophthalmia (absence of the eyes)
• dysplasia (abnormal development), hypoplasia (underdevelopment), or agenesis (absence) of the kidneys
• cryptorchidism (failure of the testes to descend into the scrotum)
• hypospadias (abnormal opening of the urethra on the underside of the penis)
• micropenis (abnormally small penis)
• abnormalities of the fallopian tubes
• clitoromegaly (enlargement of the clitoris)
• uterine malformation – bicornuate uterus (division of the uterus into two parts)
• fused labia majora
• malformations of the pubic bone
• malformations of the middle and inner ear with associated hearing impairment
• high‑arched palate or cleft palate
• laryngeal stenosis (narrowing of the larynx)
• broad nose with deep grooves along the nostrils
• abnormal positioning of the nipples and umbilicus
• malformations of the lacrimal ducts