Brachymesomelia-renal syndrome

Preferred Label : Brachymesomelia-renal syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Langer et al. (1983) reported a single case of a Japanese infant who died in the newborn period of cardiac and renal failure. X-rays showed bizarre deformities of the forearm and lower leg. The corneas were clouded and the kidneys enlarged. Renal biopsies showed glomerulocystic kidneys. A noncyanotic cardiac malformation was thought to be present. Autopsy was refused. The parents were apparently unrelated--mother aged 31 and father aged 36. *FIELD* RF 1. Langer, L. O., Jr.; Nishino, R.; Yamaguchi, A.; Ito, Y.; Ueke, T.; Togari, H.; Kato, T.; Opitz, J. M.; Gilbert, E. F.: Brachymesomelia-renal syndrome. Am. J. Med. Genet. 15: 57-65, 1983. *FIELD* CS Isolated cases;

Inheritance : Isolated cases;

Prefixed ID : 113470;

Details

Origin ID

113470;

UMLS CUI

C1862084;

Currated CISMeF NLP mapping
- brachymesomelia renal syndrome [MeSH concept]
- brachymesomelia renal syndrome [MeSH Supplementary Concept]
HPO term(s)
- Blepharophimosis [HPO term]
- Corneal opacity [HPO term]
- Cutis marmorata [HPO term]
- Depressed nasal bridge [HPO term]
- Fibular hypoplasia [HPO term]
- Flattened nasal bridge [HPO term]
- Genu varus [HPO term]
- Hypoplasia of the radius [HPO term]
- Isolated cases [HPO term]
- Low-set ears [HPO term]
- Mesomelic arm shortening [HPO term]
- Micrognathia [HPO term]
- Opacification of the corneal stroma [HPO term]
- Renal insufficiency [HPO term]
- Short palpebral fissure [HPO term]
- Single transverse palmar crease [HPO term]
- Sporadic [HPO term]
- Ulnar bowing [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- brachymesomelia renal syndrome [MeSH Supplementary Concept]
- brachymesomelia renal syndrome [MeSH concept]

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