Microphthalmia microtia fetal akinesia

Summary

Microphthalmia microtia fetal akinesia (MONDO:0043143) is a disease. A subtype of arthrogryposis multiplex congenita — 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): 15

Clinical features

Epidemiology

Prevalence records

2 prevalence record(s), Orphanet:

Type	Class	Value	Geography	Validation
Cases/families		2	Worldwide	Validated
Point prevalence	<1 / 1 000 000		Worldwide	Validated

Signs & symptoms

Clinical features (HPO)

15 HPO clinical features (Orphanet curated; top 15 by frequency):

HPO ID	Term	Frequency
HP:0000347	Micrognathia	Very frequent (80-99%)
HP:0000568	Microphthalmia	Very frequent (80-99%)
HP:0001376	Limitation of joint mobility	Very frequent (80-99%)
HP:0001643	Patent ductus arteriosus	Very frequent (80-99%)
HP:0002007	Frontal bossing	Very frequent (80-99%)
HP:0003196	Short nose	Very frequent (80-99%)
HP:0008551	Microtia	Very frequent (80-99%)
HP:0100490	Camptodactyly of finger	Very frequent (80-99%)
HP:0000014	Abnormality of the bladder	Frequent (30-79%)
HP:0000072	Hydroureter	Frequent (30-79%)
HP:0001561	Polyhydramnios	Frequent (30-79%)
HP:0008736	Hypoplasia of penis	Frequent (30-79%)
HP:0009773	Symphalangism affecting the phalanges of the hand	Frequent (30-79%)
HP:0010935	Abnormality of the upper urinary tract	Frequent (30-79%)
HP:0100867	Duodenal stenosis	Frequent (30-79%)

Identifiers

Disease identifiers

Field	Value
Canonical name	microphthalmia microtia fetal akinesia
Mondo ID	MONDO:0043143
MeSH	C536513
Orphanet	2547
UMLS	C2931224
MedGen	444005
GARD	0003650
Is cancer (heuristic)	no

Also known as: fetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus · foetal akinesia with characteristic facial appearance, severe microphthalmia, microtia, and truncus arteriosus · microphthalmia-microtia-fetal akinesia · Thomas Jewett Raines syndrome · Thomas-Jewett-Raines syndrome

Disease family

This is a subtype of arthrogryposis multiplex congenita. 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 etiologic mechanism › disease of genetic or genomic mechanism › hereditary disease › arthrogryposis multiplex congenita › microphthalmia microtia fetal akinesia

Related subtypes (23): prenatal-onset spinal muscular atrophy with congenital bone fractures, adducted thumbs-arthrogryposis syndrome, Christian type, arthrogryposis multiplex congenita 2, neurogenic type, fetal akinesia deformation sequence, arthrogryposis multiplex congenita-whistling face syndrome, arthrogryposis-hyperkeratosis syndrome, lethal form, multiple pterygium-malignant hyperthermia syndrome, Marden-Walker syndrome, arthrogryposis due to muscular dystrophy, infantile-onset X-linked spinal muscular atrophy, van den Ende-Gupta syndrome, lethal arthrogryposis-anterior horn cell disease syndrome, lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, arthrogryposis-like syndrome, autosomal recessive myogenic arthrogryposis multiplex congenita, Wieacker-Wolff syndrome (spectrum), arthrogryposis multiplex congenita 6, arthrogryposis multiplex congenita 3, myogenic type, arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome, arthrogryposis multiplex congenita 5, hypomyelination neuropathy-arthrogryposis syndrome, arthrogryposis multiplex congenita 7, X-linked

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.