Facial abnormalities, kyphoscoliosis, and impaired intellectual development

Preferred Label : Facial abnormalities, kyphoscoliosis, and impaired intellectual development;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Facial abnormalities, kyphoscoliosis, and mental retardation;

Description : Jammes et al. (1973) described 2 brothers with a new mental retardation syndrome characterized by macrocephaly, hypertelorism, downward slanted palpebral slits, protruding tongue, kyphoscoliosis, and marked difficulty walking. No parental consanguinity was noted. *FIELD* RF 1. Jammes, J.; Mirhosseini, S. A.; Holmes, L. B.: Syndrome of facial abnormalities, kyphoscoliosis and severe mental retardation. Clin. Genet. 4: 203-209, 1973. *FIELD* CS Neuro: Mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 227250;

Details

Origin ID

227250;

UMLS CUI

C1856893;

Currated CISMeF NLP mapping
- facial abnormalities, kyphoscoliosis, and mental retardation [MeSH concept]
- facial abnormalities, kyphoscoliosis, and mental retardation [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Difficulty walking [HPO term]
- Downslanted palpebral fissures [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Kyphoscoliosis [HPO term]
- Macrocephaly [HPO term]
- Macroglossia [HPO term]
- Protruding tongue [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- facial abnormalities, kyphoscoliosis, and mental retardation [MeSH Supplementary Concept]
- facial abnormalities, kyphoscoliosis, and mental retardation [MeSH concept]

Keyword's position in hierarchy(ies) :

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