Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Dentofacial anomalies may guide us to the diagnosis of many congenital and hereditary syndromes. A 9-year-old boy was diagnosed with Nance-Horan syndrome. This syndrome is an extremely rare X-linked genetic disorder which is entirely expressed in males with semi-dominant transmission which results from mutations occurring in male gametes. It is characterized by facial dysmorphism such as long face, prominent nose and mandibular prognathism, ocular abnormalities such as congenital cataract, microcornea, microphthalmia and strabismus, and dental anomalies including mulberry molars and screwdriver-shaped incisors. Heterozygous females inherit this disease and also suffer from this syndrome but in a milder form. Approximately one-third of the affected males show signs of developmental delay and intellectual abnormalities. This syndrome is very rare and the incidence of the disease has not been established so far. The present article describes the clinical and radiological features and the genetic implications of this syndrome.
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PMID:Nance-Horan Syndrome: A Rare Case Report. 2904 37

Nance-Horan syndrome (NHS) or X-linked cataract dental syndrome is an extremely rare condition affecting multiple systems. It is characterized by ophthalmological, dental, and facial anomalies. Individuals display facial dysmorphism, mandibular prognathism, congenital cataract, and strabismus. Common dental findings include notching of incisors, supernumerary teeth, and mulberry molars. This article aims to provide an update on NHS while reporting previously unreported findings such as talon's cusp and taurodontism.
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PMID:Oral Manifestations of Nance-Horan Syndrome: A Report of a Rare Case. 3201 64