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Items: 2

1.

Ellis-van Creveld syndrome

Ellis-van Creveld syndrome is an autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. Congenital cardiac defects, most commonly a defect of primary atrial septation producing a common atrium, occur in 60% of affected individuals (summary by Ruiz-Perez et al., 2000). The clinical features of the Ellis-van Creveld syndrome appear to be identical regardless of whether the disorder is caused by mutation in the EVC gene (604831) or in the EVC2 gene (607261) (Ruiz-Perez et al., 2003, Galdzicka et al., 2002). [from OMIM]

MedGen UID:
8584
Concept ID:
C0013903
Disease or Syndrome
2.

Cone-shaped epiphyses of phalanges 2 to 5

MedGen UID:
347351
Concept ID:
C1857005
Finding

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