foix chavany Marie syndrome

Summary

foix chavany Marie syndrome (MONDO:0023171) is a disease. A subtype of multiple cranial nerve palsy — 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): 8

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		150	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

8 HPO clinical features (Orphanet curated; top 8 by frequency):

HPO ID	Term	Frequency
HP:0001172	Abnormal thumb morphology	Very frequent (80-99%)
HP:0001250	Seizure	Very frequent (80-99%)
HP:0001263	Global developmental delay	Very frequent (80-99%)
HP:0001288	Gait disturbance	Very frequent (80-99%)
HP:0001344	Absent speech	Very frequent (80-99%)
HP:0001608	Abnormality of the voice	Very frequent (80-99%)
HP:0009800	Maternal diabetes	Very frequent (80-99%)
HP:0100543	Cognitive impairment	Very frequent (80-99%)

Identifiers

Disease identifiers

Field	Value
Canonical name	foix chavany Marie syndrome
Mondo ID	MONDO:0023171
MeSH	C537069
Orphanet	2048
SNOMED CT	720956003
UMLS	C2931412
MedGen	419406
GARD	0002351
Is cancer (heuristic)	no

Also known as: anterior opercular syndrome · bilateral anterior opercular syndrome · congenital Foix-Chavany-Marie syndrome · congenital Foix-Chavany-Marie syndrome (subtype) · facio-Labio-pharyngo-Glosso-laryngo-brachial paralysis · facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation · foix chavany Marie syndrome · opercular syndrome, anterior · pseudobulbar paralysis, cortical type

Disease family

This is a subtype of multiple cranial nerve palsy. 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 › cranial nerve neuropathy › cranial nerve palsy › multiple cranial nerve palsy › foix chavany Marie syndrome

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.