Microcephaly-micromelia syndrome

Preferred Label : Microcephaly-micromelia syndrome;

Symbol : MIMIS;

CISMeF acronym : MIMIS;

Type : Phenotype, molecular basis known;

Description : In a highly inbred, predominantly Cree Indian community in northern Saskatchewan, Canada, 14 similarly malformed babies were 'born to' 8 different mothers (Ives and Houston, 1980). The features were intrauterine growth retardation, perinatal death, marked microcephaly, and severe malformation of the limbs, especially the arms. Elbows were fused, forearms were greatly shortened and usually contained only a single bone, and the hands were abnormal with only 2 to 4 malformed digits. Recessive inheritance was indicated by parental consanguinity, sex ratio close to 1, and a 25% segregation ratio. *FIELD* RF 1. Ives, E. J.; Houston, C. S.: Autosomal recessive microcephaly and micromelia in Cree Indians. Am. J. Med. Genet. 7: 351-360, 1980. *FIELD* CS Growth: Intrauterine growth retardation; Perinatal death;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the downstream neighbor of son gene (DONSON, 611428.0001);

Prefixed ID : #251230;

Details

Origin ID

251230;

UMLS CUI

C1855079;

Automatic exact mappings (from CISMeF team)
- Microcephaly-micromelia syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Microcephaly-Micromelia syndrome [MeSH concept]
- Microcephaly-Micromelia syndrome [MeSH Supplementary Concept]
Genes related to phenotype
- Downstream neighbor of son [OMIM gene]
HPO term(s)
- Abnormal rib morphology [HPO term]
- Abnormality of the hand [HPO term]
- Absent radius [HPO term]
- Aplasia/Hypoplasia of the corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cleft palate [HPO term]
- Convex nasal ridge [HPO term]
- Craniosynostosis [HPO term]
- Cystic hygroma [HPO term]
- Forearm undergrowth [HPO term]
- Humeroradial synostosis [HPO term]
- Intrauterine growth retardation [HPO term]
- Low-set ears [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Micromelia [HPO term]
- Microphthalmia [HPO term]
- Narrow chest [HPO term]
- Narrow mouth [HPO term]
- Oligodactyly [HPO term]
- Oligohydramnios [HPO term]
- Pulmonary hypoplasia [HPO term]
- Short neck [HPO term]
- Short palpebral fissure [HPO term]
- Short tibia [HPO term]
- Simplified gyral pattern [HPO term]
- Talipes equinovarus [HPO term]
- Wide nose [HPO term]
ORDO concept(s)
- Microcephaly-micromelia syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephaly-Micromelia syndrome [MeSH Supplementary Concept]
- Microcephaly-Micromelia syndrome [MeSH concept]

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