Spinocerebellar ataxia-dysmorphism syndrome

Summary

Spinocerebellar ataxia-dysmorphism syndrome (MONDO:0010062) is a disease. A subtype of hereditary ataxia — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• Prevalence: <1 / 1 000 000 (Worldwide) [Orphanet-validated]
• Phenotypes (HPO): 26

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		3	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

26 HPO clinical features (Orphanet curated; top 26 by frequency):

HPO ID	Term	Frequency
HP:0001382	Joint hypermobility	Very frequent (80-99%)
HP:0000268	Dolichocephaly	Very frequent (80-99%)
HP:0000286	Epicanthus	Very frequent (80-99%)
HP:0000337	Broad forehead	Very frequent (80-99%)
HP:0000463	Anteverted nares	Very frequent (80-99%)
HP:0000508	Ptosis	Very frequent (80-99%)
HP:0000520	Proptosis	Very frequent (80-99%)
HP:0000639	Nystagmus	Very frequent (80-99%)
HP:0000974	Hyperextensible skin	Very frequent (80-99%)
HP:0001252	Hypotonia	Very frequent (80-99%)
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0002208	Coarse hair	Very frequent (80-99%)
HP:0002714	Downturned corners of mouth	Very frequent (80-99%)
HP:0002816	Genu recurvatum	Very frequent (80-99%)
HP:0002967	Cubitus valgus	Very frequent (80-99%)
HP:0003100	Slender long bone	Very frequent (80-99%)
HP:0003196	Short nose	Very frequent (80-99%)
HP:0003457	EMG abnormality	Very frequent (80-99%)
HP:0004349	Reduced bone mineral density	Very frequent (80-99%)
HP:0007360	Aplasia/Hypoplasia of the cerebellum	Very frequent (80-99%)
HP:0012471	Thick vermilion border	Very frequent (80-99%)
HP:0000358	Posteriorly rotated ears	Frequent (30-79%)
HP:0000256	Macrocephaly	Frequent (30-79%)
HP:0000648	Optic atrophy	Frequent (30-79%)
HP:0003298	Spina bifida occulta	Frequent (30-79%)
HP:0004322	Short stature	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	spinocerebellar ataxia-dysmorphism syndrome
Mondo ID	MONDO:0010062
MeSH	C564802
OMIM	271270
Orphanet	1185
UMLS	C1849088
MedGen	336495
GARD	0004958
Is cancer (heuristic)	no

Disease family

This is a subtype of hereditary ataxia. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › nervous system disorder › atactic disorder › hereditary ataxia › spinocerebellar ataxia-dysmorphism syndrome

Related subtypes (19): ataxia with fasciculations, muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome, myoclonus-cerebellar ataxia-deafness syndrome, cataract-ataxia-deafness syndrome, ataxia-hypogonadism-choroidal dystrophy syndrome, ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome, Richards-Rundle syndrome, ataxia-tapetoretinal degeneration syndrome, hereditary spastic paraplegia 7, autosomal dominant sensory ataxia 1, EAST syndrome, juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome, hereditary episodic ataxia, spastic ataxia, tremor-ataxia-central hypomyelination syndrome, hereditary cerebellar ataxia, autosomal recessive ataxia due to PEX16 deficiency, autosomal recessive ataxia due to PEX2 deficiency

Genetics & variants

GWAS landscape

No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.

Variant details and genetic-evidence tiers

No tiered GWAS variants or ClinVar records for this disease.

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.