cleft palate, cardiac defect, genital anomalies and ectrodactyly
MIM.600460
Synopsis
ectrodactyly
cleft lip/palate
mild facial dysmorphism
abnormal ears
growth retardation
cardiac malformations (congenital heart defect)
genital anomalies
- micropenis
mental retardation
autosomal recessive inheritance ?
See also
malformative combinations
- malformative associations
References
Mingarelli, R.; Zuccarello, D.; Digilio, M. C.; Dallapiccola, B. : A new observation of acro-cardio-facial syndrome substantiates interindividual clinical variability. Am. J. Med. Genet. 136A: 84-86, 2005. PMID: 15937946
Guion-Almeida, M. L.; Zechi-Ceide, R. M.; Richieri-Costa, A. : Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome. Clin. Dysmorph. 9: 269-272, 2000. PubMed ID : #11045583#
Giannotti, A.; Digilio, M. C.; Mingarelli, R.; Dallapiccola, B. : An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). J. Med. Genet. 32: 72-74, 1995. PubMed ID : #7897634#
Richieri-Costa, A.; Orquizas, L. C. : Ectrodactyly, cleft lip/palate, ventricular septal defect, micropenis and mental retardation in a Brazilian child born to consanguineous parents. Rev. Bras. Genet. 10: 787-792, 1987.