Hypospadias-impaired intellectual development syndrome

Preferred Label : Hypospadias-impaired intellectual development syndrome;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Hypospadias-mental retardation syndrome;

Description : In a socially and religiously isolated Cape Malay community in South Africa, Goldblatt et al. (1987) described 3 brothers with hypospadias and mental retardation in association with microcephaly, craniofacial dysmorphism, joint laxity, and beaked nails. One of the brothers had trigonocephaly. Although there was no known close consanguinity, the social isolation suggested that such might exist. *FIELD* RF 1. Goldblatt, J.; Wallis, C.; Viljoen, D.: A new hypospadias-mental retardation syndrome in three brothers. Am. J. Dis. Child. 123: 1168-1169, 1987. *FIELD* CS GU: Hypospadias Neuro: Mental retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 241760;

Details

Origin ID

241760;

UMLS CUI

C0795989;

Currated CISMeF NLP mapping
- Hypospadias-Mental retardation syndrome [MeSH concept]
- Hypospadias-Mental retardation syndrome [MeSH Supplementary Concept]
- Hypospadias-intellectual disability, Goldblatt type syndrome [ORDO Disease]
HPO term(s)
- Abnormal facial shape [HPO term]
- Abnormality of the nail [HPO term]
- Autosomal recessive inheritance [HPO term]
- Beaked nails [HPO term]
- Craniofacial dysmorphism [HPO term]
- Hypospadias [HPO term]
- Intellectual disability [HPO term]
- Joint laxity [HPO term]
- Microcephaly [HPO term]
- Trigonocephaly [HPO term]
ORDO concept(s)
- Hypospadias-intellectual disability, Goldblatt type syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Hypospadias-Mental retardation syndrome [MeSH Supplementary Concept]
- Hypospadias-Mental retardation syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

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