Craniosynostosis-impaired intellectual development-clefting syndrome

Preferred Label : Craniosynostosis-impaired intellectual development-clefting syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Craniosynostosis-mental retardation-clefting syndrome;

Description : Baraitser et al. (1982) described a 5-year-old girl with craniosynostosis, mental retardation, seizures, choroidal coloboma, dysplastic kidneys, bat ears, cleft lip and palate, and beaked nose. The same disorder was detected in a later pregnancy by fetoscopy, which demonstrated cleft lip. The electively aborted male fetus showed also palatal cleft, choroidal coloboma, and small posterior fontanel. *FIELD* RF 1. Baraitser, M.; Rodeck, C.; Garner, A.: A new craniosynostosis/mental retardation syndrome diagnosed by fetoscopy. Clin. Genet. 22: 12-15, 1982. *FIELD* CS;

Inheritance : Autosomal recessive;

Prefixed ID : 218650;

Details

Origin ID

218650;

UMLS CUI

C1857472;

Automatic exact mappings (from CISMeF team)
- craniosynostosis mental retardation clefting syndrome [MeSH concept]
- craniosynostosis mental retardation clefting syndrome [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Broad forehead [HPO term]
- Chorioretinal coloboma [HPO term]
- Convex nasal ridge [HPO term]
- Craniosynostosis [HPO term]
- Dry skin [HPO term]
- Forearm undergrowth [HPO term]
- Intellectual disability [HPO term]
- Lower limb undergrowth [HPO term]
- Microcephaly [HPO term]
- Oral cleft [HPO term]
- Renal dysplasia [HPO term]
- Seizure [HPO term]
- Slightly shortened forearms and legs [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- craniosynostosis mental retardation clefting syndrome [MeSH Supplementary Concept]
- craniosynostosis mental retardation clefting syndrome [MeSH concept]

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