Ellis-van Creveld syndrome?

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Answer :

DefinitionEllis-van Creveld syndrome is a rare genetic disorder that affects bone growth.Alternative NamesChondroectodermal dysplasia; EVCCauses, incidence, and risk factorsEllis-van Creveld is passed down through families (inherited). It is caused by defects in one of two Ellis van Creveld syndrome genes (EVC and EVC2) that are next to each other.The severity of the disease varies from person to person. The highest rate of the condition is seen among the Old Order Amish population of Lancaster County, Pennsylvania. It is fairly rare in the general population.SymptomsCleft lip or palateEpispadias or undescended testicle (cryptorchidism)Extra fingers (polydactyly)Limited range of motionNail problems, including missing or deformed nailsShort arms and legs, especially forearm and lower legSho

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