Blepharocheilodontic syndrome
Última actualización 18 Aug 2020
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Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).
Descripción
Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).
People with BCD syndrome have lower eyelids that turn out so that the inner surface is exposed (ectropion). The outside of the lower lid may sag away from the eye (euryblepharon), and the eyelids may not be able to close completely (lagophthalmia). There can be extra eyelashes (distichiasis) on the upper eyelids, ranging from a few extra eyelashes to a full extra set. These eyelashes do not grow along the edge of the eyelid with the normal lashes, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Affected individuals may also have widely spaced eyes (hypertelorism), a flat face, and a high forehead.
Other features of BCD syndrome usually include openings on both sides of the upper lip (bilateral cleft lip) and an opening in the roof of the mouth (cleft palate). Affected individuals may have fewer teeth than normal (oligodontia) and their teeth are often smaller than usual and cone-shaped. The dental abnormalities affect both primary teeth (sometimes called "baby teeth") and secondary (permanent) teeth. Other frequent features include sparse, fine hair and abnormal nails.
Occasionally people with BCD syndrome have additional features, including an obstruction of the anal opening (imperforate anus); malformation or absence of the butterfly-shaped gland in the lower neck called the thyroid, resulting in lack of thyroid gland function; or fused fingers or toes (syndactyly). Very rarely, affected individuals have incompletely formed arms or legs (limb reduction defects) or a spinal cord abnormality known as spina bifida.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant. More than one pattern can apply in different cases.
Related genes
Otros nombres
BCD syndrome
BCDS
Blepharo-cheilo-dontic syndrome
Blepharo-cheilo-odontic syndrome
Clefting, ectropion, and conical teeth
Ectropion, inferior, with cleft lip and/or palate
Elschnig syndrome
Lagophthalmia with bilateral cleft lip and palate
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Lecturas adicionales y referencias
- Blepharocheilodontic syndrome; MedlinePlus, National Library of Medicine.
- Ababneh FK, Al-Swaid A, Elhag A, Youssef T, Alsaif S. Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature. Am J Med Genet A. 2014 Jun;164A(6):1525-9. doi: 10.1002/ajmg.a.36465. Epub 2014 Apr 9.
- Ghoumid J, Stichelbout M, Jourdain AS, Frenois F, Lejeune-Dumoulin S, Alex-Cordier MP, Lebrun M, Guerreschi P, Duquennoy-Martinot V, Vinchon M, Ferri J, Jung M, Vicaire S, Vanlerberghe C, Escande F, Petit F, Manouvrier-Hanu S. Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. Genet Med. 2017 Sep;19(9):1013-1021. doi: 10.1038/gim.2017.11. Epub 2017 Mar 16.
- Gorlin RJ, Zellweger H, Curtis MW, Wiedemann HR, Warburg M, Majewski F, Gillessen-Kaesbach G, Prahl-Andersen B, Zackai E. Blepharo-cheilo-dontic (BCD) syndrome. Am J Med Genet. 1996 Oct 16;65(2):109-12. doi: 10.1002/(SICI)1096-8628(19961016)65:23.0.CO;2-N.
- Guion-Almeida ML, Rodini ES, Kokitsu-Nakata NM, Bologna-Amantini D. Blepharo-Cheilo-Dontic (BCD) syndrome: report on four new patients. Am J Med Genet. 1998 Mar 5;76(2):133-6. doi: 10.1002/(sici)1096-8628(19980305)76:23.0.co;2-u.
- Valdez-de la Torre MH, Quintana-Garcia M, Canun S. Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients. Am J Med Genet. 1999 Jul 16;85(2):157-9. doi: 10.1002/(sici)1096-8628(19990716)85:23.3.co;2-1.
- Weaver KN, Rutledge KD, Grant JH, Robin NH. Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. Am J Med Genet A. 2010 Feb;152A(2):438-40. doi: 10.1002/ajmg.a.33207.
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