Cortical blindness, retardation, and postaxial polydactyly

Preferred Label : Cortical blindness, retardation, and postaxial polydactyly;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : Hernandez et al. (1985) found this combination in 3 children of first-cousin parents. The facies were considered typical with prominent forehead, short nose, long philtrum, and microretrognathia. Two of the 3 died at 20 and 5 months, respectively, of acute gastroenteritis. Growth and psychomotor development were severely retarded. *FIELD* RF 1. Hernandez, A.; Garcia-Esquivel, L.; Reynoso, M. C.; Fragoso, R.; Enriquez-Guerra, M. A.; Nazara, Z.; Anzar, M. B.; Cantu, J. M.: Cortical blindness, growth and psychomotor retardation and postaxial polydactyly: a probably distinct autosomal recessive syndrome. Clin. Genet. 28: 251-254, 1985. *FIELD* CS Neuro: Cortical blindness; Psychomotor retardation Growth: Retarded;

Inheritance : Autosomal recessive;

Prefixed ID : 218010;

Details

Origin ID

218010;

UMLS CUI

C1857568;

Currated CISMeF NLP mapping
- Cortical blindness, intellectual disability, polydactyly syndrome (disorder) [SNOMED CT concept]
- Cortical blindness-intellectual disability-polydactyly syndrome [ORDO Disease]
- cortical blindness, retardation, and postaxial polydactyly [MeSH concept]
- cortical blindness, retardation, and postaxial polydactyly [MeSH Supplementary Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cerebral visual impairment [HPO term]
- Cortical blindness [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Growth abnormality [HPO term]
- Long philtrum [HPO term]
- Microretrognathia [HPO term]
- Prominent forehead [HPO term]
- Psychomotor retardation [HPO term]
- Short nose [HPO term]
ORDO concept(s)
- Cortical blindness-intellectual disability-polydactyly syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Cortical blindness-intellectual disability-polydactyly syndrome [ORDO Disease]
- cortical blindness, retardation, and postaxial polydactyly [MeSH Supplementary Concept]
- cortical blindness, retardation, and postaxial polydactyly [MeSH concept]

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