Preferred Label : Mesoaxial hexadactyly and cardiac malformation;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Mexican cardiomelic dysplasia;
Description : The Holt-Oram, Ellis-van Creveld, and Kaufman syndromes may be called cardiomelic
dysplasias. Martinez-y-Martinez et al. (1981) described a new form in brother and
sister who had mesoaxial hexadactyly (bifid third finger) and severe cardiac malformation.
The sister died at age 6 days of cyanotic cardiorespiratory distress. The surviving
brother, at age 17, was mildly mentally retarded with short stature and infantile
genitalia. He also showed everted lower lip and ocular torticollis. Cardiac surgery
at age 11 consisted of repair of atrial and ventricular septal defects, pulmonary
valvulotomy for stenosis, and closure of a persistent ductus arteriosus (see 607411).
*FIELD* RF 1. Martinez-y-Martinez, R.; Corona-Rivera, E.; Jimenez-Martinez, M.; Ocampo-Campos,
R.; Garcia-Maravilla, S.; Cantu, J. M.: A new probably autosomal recessive cardiomelic
dysplasia with mesoaxial hexadactyly. J. Med. Genet. 18: 151-154, 1981. *FIELD* CS
Limbs: Mesoaxial hexadactyly; Bifid third finger Cardiac: Congenital heart defect;
Atrial septal defect; Ventricular septal defect; Pulmonic valvular stenosis; Patent
ductus arteriosus Neuro: Mild mental retardation Growth: Short stature GU: Hypogenitalism;
Inheritance : Autosomal recessive;
Prefixed ID : 249670;
Origin ID : 249670;
UMLS CUI : C0796057;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
