Spinocerebellar ataxia with dysmorphism

Preferred Label : Spinocerebellar ataxia with dysmorphism;

Type : Other, mainly phenotypes with suspected mendelian basis;

Description : In 2 brothers and a sister, aged 7 to 13 years, Sanchez-Corona et al. (1985) observed a seemingly 'new' autosomal recessive hereditary ataxia syndrome. Features included unusual facies (gross, rough and abundant hair, mild palpebral ptosis, thick lips, and down-curved corners of the mouth), dysarthria, delayed psychomotor development, scoliosis, foot deformities, and ataxia. *FIELD* RF 1. Sanchez-Corona, J.; Garcia-Cruz, D.; Gonzalez-Angulo, A.; Alvarez-Arratia, M. C.; Rodriguez, R. M.; Cantu, J. M.: A distinct dysmorphic syndrome with spinocerebellar ataxia and probable autosomal recessive inheritance. Hum. Genet. 69: 243-245, 1985. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 271270;

Details

Origin ID

271270;

UMLS CUI

C1849088;

Currated CISMeF NLP mapping
- Spinocerebellar ataxia dysmorphism syndrome (disorder) [SNOMED CT concept]
- Spinocerebellar ataxia-dysmorphism syndrome [ORDO Disease]
- spinocerebellar ataxia with dysmorphism [MeSH concept]
- spinocerebellar ataxia with dysmorphism [MeSH Supplementary Concept]
HPO term(s)
- Abnormal foot morphology [HPO term]
- Anteverted nares [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Babinski sign [HPO term]
- Broad forehead [HPO term]
- Cerebellar atrophy [HPO term]
- Coarse facial features [HPO term]
- Coarse hair [HPO term]
- Downturned corners of mouth [HPO term]
- Dysarthria [HPO term]
- Full lips [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- Hyporeflexia [HPO term]
- Hypotonia [HPO term]
- Ptosis [HPO term]
- Scoliosis [HPO term]
- Short nose [HPO term]
- Thick lower lip vermilion [HPO term]
ORDO concept(s)
- Spinocerebellar ataxia-dysmorphism syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Spinocerebellar ataxia-dysmorphism syndrome [ORDO Disease]
- spinocerebellar ataxia with dysmorphism [MeSH Supplementary Concept]
- spinocerebellar ataxia with dysmorphism [MeSH concept]

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