Cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome

Preferred Label : Cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Camfak syndrome;

Included titles and symbols : Cataract, microcephaly, arthrogryposis, kyphosis syndrome; Camak syndrome;

Inheritance : Autosomal recessive;

Prefixed ID : 212540;

Details

Origin ID

212540;

UMLS CUI

C1859312;

Automatic exact mappings (from CISMeF team)
- CAMFAK syndrome [ICD-11 More detail]
- CAMFAK syndrome [ORDO Disease]
- CAMFAK syndrome [MeSH concept]
- CAMFAK syndrome [MeSH Supplementary Concept]
- cataract, microcephaly, arthrogryposis, kyphosis syndrome [MeSH Supplementary Concept]
- cataract, microcephaly, arthrogryposis, kyphosis syndrome [MeSH concept]
HPO term(s)
- Abnormality of the face [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Failure to thrive [HPO term]
- Hip dislocation [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Kyphoscoliosis [HPO term]
- Microcephaly [HPO term]
- Small for gestational age [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- CAMFAK syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CAMFAK syndrome [MeSH Supplementary Concept]
- CAMFAK syndrome [MeSH concept]

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