Preferred Label : Multiple epiphyseal dysplasia with robin phenotype;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Epiphyseal dysplasia, multiple, with robin phenotype;
Description : Lowry et al. (1996) described 2 unrelated patients with a phenotype consisting of
small flat epiphyses, cleft of the secondary palate, micrognathia, and rhizomelic
shortening of the limbs. Both had a similarly broad nasal tip, upward slanting palpebral
fissures, and mild joint contractures. Stickler syndrome (108300) was considered in
the differential diagnosis of both children, but neither had eye findings or flattening
of the midface. Additionally, the radiographic findings in these children were not
those of Stickler syndrome. The mode of inheritance could not be determined as both
cases were sporadic. *FIELD* RF 1. Lowry, R. B.; Wesenberg, R. L.; Hall, J. G.: Syndrome
of multiple epiphyseal dysplasia (Ribbing type) with rhizomelic shortness, cleft palate,
and micrognathia in two unrelated patients. Am. J. Med. Genet. 63: 55-61, 1996. *FIELD*
CS Isolated cases;
Inheritance : Isolated cases;
Prefixed ID : 601560;
Origin ID : 601560;
UMLS CUI : C1832112;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
