Treacher Collins syndrome Disease

About Gene:

Treacher Collins syndrome is a rare congenital condition resulting in underdeveloped facial bones. Children with Treacher Collins syndrome tend to have misplaced ears, eyes, cheekbone and jaws.

Number of Patients: 1

Disease Causing Genes:

TCOF1 POLR1C POLR1D POLR1B CNBP GSC HOXA2 LPIN3 ZDHHC1

Sign and Symptoms:

  1. Deafness
  2. Deformed face
  3. cleft palate
  4. Downward slanted eye
  5. sparse eyelashes
  6. Defective middle ear

Diagnosis:

(1) Medical history collection (2) Physical examination (3) Biochemical test (4) X-ray (5) Eye examination

Preventions:

Genetic counseling and genetic screening

Treatment:

Reconstructive surgery Symptomatic treatment such as - eye drop - nebulization - parenteral antibiotics - nutrient supplements