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Ellis-van Creveld syndrome

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A classic congenital syndrome of disproportionate short-limb dwarfism.

Description

A classic congenital syndrome of disproportionate short-limb dwarfism; acromelic dwarfism which is a very rare form of mesomelic dwarfism. Other characteristics are polydactyly (six-fingered dwarfism), a long narrow thorax, hydrotic ectodermal dysplasia, hypoplastic nails and teeth, and congenital heart defects such as atrial and ventricular defects and cleft mitral valve. Associated abnormalities may include genital anomalies, scant or fine hair, mental retardation (30 %), cryptorchism, epispadias, and talipes equinovalgus. There is increased mortality during first year of life, particularly with heart defect.

Some authors suggest that there are many overlapping features of renohepatopancreatic dysplasia and Ellis-van Creveld and Jeune syndromes, which indicate that these three conditions may be parts of a disease spectrum rather than being distinct entities.

It was described by Ellis and van Creveld in 1940. Very few cases have been reported in the literature. These writers suggested that the syndrome is a recessive, inherited defect without sex linkage. Consanguinity was present in two of their patients. Occurs in the Amish group of Pennsylvania (5:1000). Aetiology. The syndrome is transmitted as an autosomal recessive trait.

Bibliography

  • R. W. B. Ellis, S. van Creveld:
    A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and congenital morbus cordis. Report of three cases.
    Archives of Disease in Childhood, London, 1940, 15: 65-84.
  • L. A. Bruton, et al:
    Ellis-van Creveld syndrome, Jeune syndrome, and renal-hepatic-pancreatic dysplasia: Separate entities or disease spectrum?
    Journal of Medical Genetics, London, 1990, 27: 252-255.

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