Preferred Label : Cataract, aberrant oral frenula, and growth retardation;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Wellesley et al. (1991) described a mother and 2 children, a boy and a girl, with
short stature, cataracts, and aberrant oral frenula. The mother was 150 cm tall (less
than the third centile) and had had cataracts removed in early adulthood. The boy
had left ptosis with hypermetropia, and bilateral posterior polar cataracts were removed
at the age of 3 years. His facial changes consisted of epicanthal folds. There were
numerous aberrant frenula of the upper alveolar margin. He had a small umbilical hernia
and had had bilateral inguinal herniorrhaphies. The girl had a cavernous hemangioma
at the right corner of her mouth but at 19 months had not yet developed cataracts
which occurred later in her brother. *FIELD* RF 1. Wellesley, D.; Carman, P.; French,
N.; Goldblatt, J.: Cataracts, aberrant oral frenula, and growth retardation: a new
autosomal dominant syndrome. Am. J. Med. Genet. 40: 341-342, 1991. *FIELD* CS Autosomal
dominant;
Inheritance : Autosomal dominant;
Prefixed ID : 115645;
Origin ID : 115645;
UMLS CUI : C1861835;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
