Preferred Label : Dextrocardia with unusual facies and microphthalmia;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : In presumably unrelated patients born in each case of consanguineous Arab parents,
Aughton (1990) and Nachlieli and Gershoni-Baruch (1992) described dextrocardia associated
with an unusual facial appearance (sloping forehead, prominent nose, large pinnae,
and micrognathia), microphthalmia or clinical anophthalmia, and normal growth. Both
had an unusual 'folding' of the plantar aspect of the foot. The patient of Aughton
(1990) also had vertebral fusion defects and supernumerary ribs. The patient of Nachlieli
and Gershoni-Baruch (1992) had cleft palate, mental retardation, and choreoathetosis.
*FIELD* RF 1. Aughton, D. J.: New syndrome? Clinical anophthalmia, dextrocardia, and
skeletal anomalies in an infant born to consanguineous parents. Am. J. Med. Genet.
37: 178-181, 1990. 2. Nachlieli, T.; Gershoni-Baruch, R.: Dextrocardia, microphthalmia,
cleft palate, choreoathetosis, and mental retardation in an infant born to consanguineous
parents. Am. J. Med. Genet. 42: 458-460, 1992. *FIELD* CS Cardiac: Dextrocardia;
Inheritance : Autosomal recessive;
Prefixed ID : 221950;
Origin ID : 221950;
UMLS CUI : C1857298;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
