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Otofacial syndrome is an extremely rare congenital deformity whereby the person afflicted is born without a jaw and subsequently a chin.

In nearly all cases, the child does not survive because of the inability to breathe and eat properly. Even with reconstructive surgery, the tongue is so underdeveloped as to make unaided breathing and swallowing impossible.

[edit] Treatment

The first challenge to survival is assisted breathing and tubal feeding. This is a lifelong affair, generally requiring the patient to spend nearly all of the time under direct hospital care.

American surgeons successfully used bone from the hip of an Irish teenager named Alan Doherty to rebuild a jaw and chin. Starting in June of 2007 and completing the final of seven surgeries on August 25, 2008. Doherty is now able to smile but is still unable to breathe, eat, or speak on his own.^[1][2]

[edit] References

v • d • e Congenital malformations and deformations of digestive system (Q35-Q45, 749-751) Upper GI tract Tongue, mouth and pharynx Cleft lip and palate · Van der Woude syndrome · tongue (Ankyloglossia, Macroglossia, Hypoglossia) Esophagus EA/TEF (Esophageal atresia: types A, B, C, and D, Tracheoesophageal fistula: types B, C, D and E) esophageal rings (Esophageal web  · upper, Schatzki ring · lower) Stomach Pyloric stenosis · Hiatus hernia Lower GI tract Intestines Intestinal atresia (Duodenal atresia) · Meckel's diverticulum · Hirschsprung's disease · Intestinal malrotation · Dolichocolon · Enteric duplication cyst Rectum/anus Imperforate anus · Persistent cloaca Accessory Pancreas Annular pancreas · Accessory pancreas · Johanson-Blizzard syndrome Pancreas divisum Bile duct Choledochal cysts (Caroli disease) · Biliary atresia Liver Alagille syndrome mouth navs: anat/dev, noncongen/congen face/congen GI/neoplasia, symptoms, proc digestive system navs: anat of tract,glands,perit,diaphragm/physio/dev, noncongen/congen/congen of d+w/neoplasia, symptoms+signs/eponymous, proc

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