Fraser Syndrome Disease

About Gene:

Fraser syndrome (also known as Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome) is a rare autosomal recessive congenital disorder characterized by fused eyelids (cryptophthalmos), fusion of the skin between the fingers and toes (syndactyly), and abnormalities of the genitalia and urinary tract. Fraser syndrome can be fatal before or shortly after birth; less severely affected individuals can live into childhood or adulthood. The prevalence of Fraser syndrome FS has been established to be approximately forty-three per 100,000 live birth and 11.06 per 100,000 still births.

Number of Patients: 1

Disease Causing Genes:

Sign and Symptoms:

  1. anophthalmic eyes
  2. bilateral hidden eyes (cryptophthalmos) with no eye lashes
  3. dysmorphic
  4. Small nose with hypoplastic nares and broad and depressed nasal bridge
  5. Syndactyly of 3rd, 4th and 5th finger of both hands
  6. genetic abnormality with chordee
  7. tachypnic

Diagnosis:

1. Ultrasound at 18 weeks of gestation. 2. The presence of one major criterion such as cryptophthalmos, syndactyly, anal imperforation, external genitalia, limb anomalies, and one minor criterion such as nasal, laryngeal or ear malformations, skeletal defects, umbilical hernia, mental retardation, respiratory and urogenital tract anomalies.

Preventions:

Treatment:

There is currently no cure for Fraser syndrome. Treatment of FS may include surgery to correct some of the malformations associated with this disorder depending on their severity, medical history collection, physical examination, x-ray, USG, blood tests, biopsy, and karyotype test.