Information about Treacher Collins Syndrome

Treacher Collins syndrome
Classification & external resources

ICD-10	Q75.4
ICD-9	756.0
OMIM	154500
DiseasesDB	13267
MedlinePlus	001659
eMedicine	plastic/183
MeSH	D008342

Treacher Collins syndrome (also known as Franceschetti-Zwahlen-Klein syndrome or mandibulofacial dysostosis) is a rare genetic disorder characterized by craniofacial deformites. Treacher Collins syndrome is found in 1 in 10,000 births. The typical physical features include downward slanting eyes, a small lower jaw, and malformed or absent ears.

Eponym

It is named after Edward Treacher Collins (1862–1932), the English surgeon and ophthalmologist who described its essential traits in 1900.^[1]

Cause

One known cause of this syndrome is a mutation in the TCOF1 gene, at chromosome 5-q32-q33.1. The protein coded by this gene is called treacle and has been hypothesised to assist in protein sorting during particular stages in embryonic development, particularly that of the structures of the head and face. The disorder is inherited in an autosomal-dominant pattern.

Symptoms

The symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, which result in a sunken appearance in the middle of the face, a prominent nose, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth, called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems.

People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called a coloboma. This condition is also characterized by absent, small, or unusually formed ears (pinnae), called microtia. Defects in the middle ear (which contains three small bones that transmit sound) cause hearing loss in about half of cases. People with Treacher Collins syndrome usually have normal intelligence.

Trivia

Treacher Collins Syndrome was featured in the 2006 Nip/Tuck episode .

Juliana Wetmore was born with this syndrome. She is featured in TLC's "Born Without A Face."^[2], in which she is missing 30%-40% of bones in her face.^[2]

See also

• Hearing loss with craniofacial syndromes

References

External links

• Amie's Home, by Amie Osborn, M.D.
• Juliana Wetmore
• Support Groups:
• Treacher Collins - Face to Face
• Treacher Group
• Treacher Collins Connection

•  • [ e] Congenital malformations and deformations of musculoskeletal system (Q65-Q79, )
Limbs	Dislocation of hip/Hip dysplasia - feet (Club foot, Flat feet, Pes cavus) - axis (Plagiocephaly, Scoliosis, Pectus excavatum, Pectus carinatum) - Genu varum - Polydactyly - Amelia - Phocomelia - Cleidocranial dysostosis - Madelung's deformity - Sprengel's deformity - Arthrogryposis
Skull and face bones	Craniosynostosis (Scaphocephaly) - Trigonocephaly - Oxycephaly - Crouzon syndrome - Hypertelorism - Macrocephaly - Treacher Collins syndrome - Platybasia
Spine and bony thorax	Klippel-Feil syndrome - Cervical rib - Bifid rib
Osteochondrodysplasia	growth of tubular bones and spine (Achondrogenesis, Thanatophoric dysplasia, Short rib-polydactyly syndrome, Chondrodysplasia punctata {Rhizomelic chondrodysplasia punctata, Conradi-Huenermann syndrome}, Achondroplasia, Hypochondroplasia, Ellis-van Creveld syndrome, Spondyloepiphyseal dysplasia congenita) - Osteogenesis imperfecta - McCune-Albright syndrome - Osteopetrosis - Metaphyseal dysplasia - Hereditary multiple exostoses
Other	abdominal wall (Congenital diaphragmatic hernia, Omphalocele, Gastroschisis, Prune belly syndrome) - Ehlers-Danlos syndrome
See also conditions (, )