Tags

Type your tag names separated by a space and hit enter

Acro-cardio-facial syndrome.
Orphanet J Rare Dis. 2010 Sep 29; 5:25.OJ

Abstract

Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. Up to now, 9 patients have been described, and most of the reported cases were not surviving the first days or months of age. The spectrum of defects occurring in ACFS is wide, and both interindividual variability and clinical differences among sibs have been reported. The diagnosis is based on clinical criteria, since the genetic mechanism underlying ACFS is still unknown. The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and heart defects. An autosomal recessive pattern of inheritance has been suggested, based on parental consanguinity and disease's recurrence in sibs in some families. The more appropriate recurrence risk of transmitting the disease for the parents of an affected child seems to be up to one in four. Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other specialists. Prognosis of ACFS is poor.

Authors+Show Affiliations

Division of Medical Genetics, Bambino Gesù Pediatric Hospital, IRCCS, Piazza S, Onofrio 4, 00165, Rome, Italy. maria.digilio@opbg.netNo affiliation info available

Pub Type(s)

Journal Article
Review

Language

eng

PubMed ID

20920258

Citation

Digilio, Maria Cristina, and Bruno Dallapiccola. "Acro-cardio-facial Syndrome." Orphanet Journal of Rare Diseases, vol. 5, 2010, p. 25.
Digilio MC, Dallapiccola B. Acro-cardio-facial syndrome. Orphanet J Rare Dis. 2010;5:25.
Digilio, M. C., & Dallapiccola, B. (2010). Acro-cardio-facial syndrome. Orphanet Journal of Rare Diseases, 5, 25. https://doi.org/10.1186/1750-1172-5-25
Digilio MC, Dallapiccola B. Acro-cardio-facial Syndrome. Orphanet J Rare Dis. 2010 Sep 29;5:25. PubMed PMID: 20920258.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Acro-cardio-facial syndrome. AU - Digilio,Maria Cristina, AU - Dallapiccola,Bruno, Y1 - 2010/09/29/ PY - 2010/04/17/received PY - 2010/09/29/accepted PY - 2010/10/6/entrez PY - 2010/10/6/pubmed PY - 2011/2/22/medline SP - 25 EP - 25 JF - Orphanet journal of rare diseases JO - Orphanet J Rare Dis VL - 5 N2 - Acro-cardio-facial syndrome (ACFS) is a rare genetic disorder characterized by split-hand/split-foot malformation (SHFM), facial anomalies, cleft lip/palate, congenital heart defect (CHD), genital anomalies, and mental retardation. Up to now, 9 patients have been described, and most of the reported cases were not surviving the first days or months of age. The spectrum of defects occurring in ACFS is wide, and both interindividual variability and clinical differences among sibs have been reported. The diagnosis is based on clinical criteria, since the genetic mechanism underlying ACFS is still unknown. The differential diagnosis includes other disorders with ectrodactyly, and clefting conditions associated with genital anomalies and heart defects. An autosomal recessive pattern of inheritance has been suggested, based on parental consanguinity and disease's recurrence in sibs in some families. The more appropriate recurrence risk of transmitting the disease for the parents of an affected child seems to be up to one in four. Management of affected patients includes treatment of cardiac, respiratory, and feeding problems by neonatal pediatricians and other specialists. Prognosis of ACFS is poor. SN - 1750-1172 UR - https://www.unboundmedicine.com/medline/citation/20920258/Acro_cardio_facial_syndrome_ L2 - https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-5-25 DB - PRIME DP - Unbound Medicine ER -