Cleft-limb-heart malformation syndrome

Preferred Label : Cleft-limb-heart malformation syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Clh syndrome;

Description : Verloove-Vanhorick et al. (1981) described a combination of severe malformations, lethal in the newborn period, in a brother and sister. Both showed bilateral cheilognatopalatoschizis, truncus arteriosus, and deformity, including oligopolysyndactyly, of all 4 limbs. Borderline suggestions of prediabetes were found in the mother. *FIELD* RF 1. Verloove-Vanhorick, S. P.; Brubakk, A. M.; Ruys, J. H.: Extensive congenital malformations in two siblings: maternal pre-diabetes or a new syndrome? Acta Paediat. Scand. 70: 767-769, 1981. *FIELD* CS Growth: Lethal in newborn;

Inheritance : ? Autosomal recessive;

Prefixed ID : 215850;

Details

Origin ID

215850;

UMLS CUI

C1859082;

Currated CISMeF NLP mapping
- Verloove Vanhorick Brubakk syndrome (disorder) [SNOMED CT concept]
- Verloove Vanhorick-Brubakk syndrome [ORDO Disease]
- Verloove-Vanhorick Brubakk syndrome [MeSH concept]
- Verloove-Vanhorick brubakk syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Growth abnormality [HPO term]
- Syndactyly [HPO term]
- Truncus arteriosus [HPO term]
ORDO concept(s)
- Verloove Vanhorick-Brubakk syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Verloove Vanhorick Brubakk syndrome (disorder) [SNOMED CT concept]
- Verloove Vanhorick-Brubakk syndrome [ORDO Disease]
- Verloove-Vanhorick Brubakk syndrome [MeSH concept]
- Verloove-Vanhorick brubakk syndrome [MeSH Supplementary Concept]

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