Orthopedics > OCOSH Classification > Hand Disorders and Deformities > Congenital Hand Deformities > Failure of formation of parts > Cleft Hand > CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY OMIM

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CLEFT PALATE, CARDIAC DEFECT, GENITAL ANOMALIES, AND ECTRODACTYLY OMIM

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Location: http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=600460

Description: Alternative titles;
CCGE
ACROCARDIOFACIAL SYNDROME; ACFS
Richieri-Costa and Orquizas (1987) reported the case of a Brazilian boy, born to healthy, consanguineous parents, who was affected by a constellation of malformations including ectrodactyly, cleft lip/palate, congenital heart defect, genital anomalies, and mental retardation. Giannotti et al. (1995) reported a brother and sister, offspring of nonconsanguineous parents, with the same combination of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). They suggested that this is an autosomal recessive disorder.

Type: Reference Material
Author/Contact: Victor A. McKusick
Institution: OMIM
Primary Subject/Category:

Language: English

Submitted by: admin
Hits: 725
Added: Sat Aug 08 2009