Oculocerebral hypopigmentation syndrome of preus

Preferred Label : Oculocerebral hypopigmentation syndrome of preus;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Preus et al. (1983) described 2 sibs, born of consanguineous Italian parents, who had an oculocerebral hypopigmentation syndrome consisting of growth retardation, dolichocephaly, cataracts, highly arched palate, small and widely spaced teeth, generalized hypopigmentation, psychomotor retardation, and hypochromic anemia. Patton et al. (1987) concluded that this syndrome was distinct from the oculocerebral hypopigmentation syndrome described by Cross et al. (1967); see 257800. *FIELD* RF 1. Cross, H. E.; McKusick, V. A.; Breen, W.: A new oculocerebral syndrome with hypopigmentation. J. Pediat. 70: 398-406, 1967. 2. Patton, M. A.; Baraitser, M.; Heagerty, A. H. M.; Eady, R. A. J. : An oculocerebral hypopigmentation syndrome: a case report with clinical, histochemical, and ultrastructural findings. J. Med. Genet. 24: 118-122, 1987. 3. Preus, M.; Fraser, F. C.; Wigglesworth, J. W.: An oculocerebral hypopigmentation syndrome. J. Genet. Hum. 31: 323-328, 1983. *FIELD* CS Growth: Growth retardation;

Inheritance : Autosomal recessive;

Prefixed ID : 257790;

Détails

Origin ID

257790;

UMLS CUI

C2931646;

Currated CISMeF NLP mapping
- Oculocerebral hypopigmentation syndrome of Preus type (disorder) [SNOMED CT concept]
- Oculocerebral hypopigmentation syndrome type Preus [MeSH concept]
- Oculocerebral hypopigmentation syndrome, Preus type [ORDO Disease]
- oculocerebral hypopigmentation syndrome type preus [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cataract [HPO term]
- Dolichocephaly [HPO term]
- Generalized hypopigmentation [HPO term]
- Global developmental delay [HPO term]
- Growth delay [HPO term]
- High palate [HPO term]
- High, narrow palate [HPO term]
- High-arched palate [HPO term]
- Hypochromic anemia [HPO term]
- Microdontia [HPO term]
- Psychomotor retardation [HPO term]
- Small, widely spaced teeth [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Oculocerebral hypopigmentation syndrome, Preus type [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Oculocerebral hypopigmentation syndrome of Preus type (disorder) [SNOMED CT concept]
- Oculocerebral hypopigmentation syndrome type Preus [MeSH concept]
- Oculocerebral hypopigmentation syndrome, Preus type [ORDO Disease]
- oculocerebral hypopigmentation syndrome type preus [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients