Home > D. Systemic pathology > Genetic and developmental anomalies > Malformative associations > cleft palate, cardiac defect, genital anomalies and ectrodactyly

cleft palate, cardiac defect, genital anomalies and ectrodactyly

MIM.600460

Thursday 1 November 2007

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.