Ellis-Van Creveld Syndrome
Ellis-Van Creveld Syndrome (Chondroectodermal Dysplasia)
General: Autosomal recessive inheritance; occurs in the Amish; associated with de novo chromosomal abnormality: deletion of 12 (p11.21p12.2).
Ocular: Esotropia; iris coloboma; congenital cataract.
Clinical: Bilateral polydactyly; short and plump limbs; genu valgum; talipes (equinovarus, calcaneovalgus); thoracic constriction; fusion of middle part of upper lip to maxillary gingival margin; dental anomalies: number, shape, spacing; congenital heart defect in about 50% of patients; dystrophic fingernails; genital anomalies; mild mental retardation; short stature; hypoplastic hair and skin; oligodontia; small thoracic cage; hypoplastic pelvis; cone-shaped epiphyses of hands.
Ellis RWB, van Creveld S. A syndrome characterized by polydactyly, chondro-dysplasia and congenital morbus cordis. Arch Dis Child 1940; 15:65.
Nagai T, et al. Del (12) (p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. Am J Med Genet 1995; 55:16-18.
Wynne-Davies R. Genetics and malformations of the hand. Hand 1971; 3:184-192.
General: Autosomal recessive inheritance; occurs in the Amish; associated with de novo chromosomal abnormality: deletion of 12 (p11.21p12.2).
Ocular: Esotropia; iris coloboma; congenital cataract.
Clinical: Bilateral polydactyly; short and plump limbs; genu valgum; talipes (equinovarus, calcaneovalgus); thoracic constriction; fusion of middle part of upper lip to maxillary gingival margin; dental anomalies: number, shape, spacing; congenital heart defect in about 50% of patients; dystrophic fingernails; genital anomalies; mild mental retardation; short stature; hypoplastic hair and skin; oligodontia; small thoracic cage; hypoplastic pelvis; cone-shaped epiphyses of hands.
Ellis RWB, van Creveld S. A syndrome characterized by polydactyly, chondro-dysplasia and congenital morbus cordis. Arch Dis Child 1940; 15:65.
Nagai T, et al. Del (12) (p11.21p12.2) associated with an asphyxiating thoracic dystrophy or chondroectodermal dysplasia-like syndrome. Am J Med Genet 1995; 55:16-18.
Wynne-Davies R. Genetics and malformations of the hand. Hand 1971; 3:184-192.
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