Microcephaly with cervical spine fusion anomalies

Preferred Label : Microcephaly with cervical spine fusion anomalies;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Zackai et al. (1972) described brothers, from a consanguineous marriage, who had microcephaly, mild mental retardation, short stature, and skeletal anomalies. The facies were similar to those in Seckel syndrome. One brother had fusion C6-7 with instability at C2-3 producing spinal cord compression. The other brother had fusion at C2-3 and C7-T1. *FIELD* RF 1. Zackai, E. H.; Sly, W. S.; McAlister, W. H.: Microcephaly, mild mental retardation, short stature, and skeletal anomalies in siblings. Am. J. Dis. Child. 124: 111-119, 1972. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : 251250;

Details

Origin ID

251250;

UMLS CUI

C0796066;

Automatic exact mappings (from CISMeF team)
- Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) [SNOMED CT concept]
- Microcephaly - cervical spine fusion anomalies [ICD-11 More detail]
Currated CISMeF NLP mapping
- Microcephaly cervical spine fusion anomalies [MeSH concept]
- Microcephaly-cervical spine fusion anomalies syndrome [ORDO Disease]
- microcephaly cervical spine fusion anomalies [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Intellectual disability [HPO term]
- Microcephaly [HPO term]
- Short stature [HPO term]
- Spinal cord compression [HPO term]
- Spinal instability [HPO term]
- Vertebral fusion [HPO term]
ORDO concept(s)
- Microcephaly-cervical spine fusion anomalies syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) [SNOMED CT concept]
- Microcephaly cervical spine fusion anomalies [MeSH concept]
- Microcephaly-cervical spine fusion anomalies syndrome [ORDO Disease]
- microcephaly cervical spine fusion anomalies [MeSH Supplementary Concept]

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