Microphthalmia-microtia-fetal akinesia syndrome
Synonyms: Thomas-Jewett-Raines syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare lethal multiple congenital anomalies/dysmorphic syndrome characterized by the association of fetal akinesia sequence, bilateral microphthalmia, microtia, and persistent truncus arteriosus. Additional dysmorphic features include prominent forehead, small nose, micrognathia, as well as camptodactyly and symphalangism. Contractures of large joints and micropenis have also been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microphthalmia-microtia-fetal akinesia syndrome | Thomas-Jewett-Raines syndrome |
| fr | Syndrome de microphtalmie-microtie-akinésie foetale | Syndrome de Thomas-Jewtt-Raines |
| de | Mikrophthalmie-Mikrotie-fetale Akinesie-Syndrom | Thomas-Jewett-Raines-Syndrom |
| es | Síndrome de microftalmia-microtia-aquinesia fetal | Síndrome de Thomas-Jewtt-Raines |
| it | Microftalmia - microtia - acinesia - ritardo mentale | Sindrome di Thomas-Jewtt-Raines |
| nl | Microftalmie - microtie - foetale akinesie-syndroom | Syndroom van Thomas-Jewett-Raines |
| pt | Síndrome de microftalmia-microtia-acinesia fetal | Síndrome Thomas-Jewett-Raines |
| pl | Mikroftalmia - mikrotia - akinezja płodu | Zespół Thomasa, Jewetta i Rainesa |
| cs | Syndrom zahrnující mikroftalmii, mikrocii a fetální akinezi | Thomasův-Jewettův-Rainesův syndrom · Thomas-Jewett-Rainesův syndrom |
| uk | Синдром мікрофтальмії-мікротії-акінезії плода | Синдром Томаса-Джуетта-Рейнса |
| zh | 小眼-小耳-胎儿运动障碍综合征 | Thomas-Jewett-Raines 综合征 |
| tr | Mikroftalmi-mikrotia-fetal akinezi sendromu | Thomas-Jewett-Raines sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| MONDO | 0043143 | E | validated | |
| MeSH | C536513 | E | validated | |
| UMLS | C2931224 | E | validated | |
| GARD | 3650 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:1037Arthrogryposis multiplex congenita
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:471383Genetic lethal multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases - ORPHA:459787Lethal multiple congenital anomalies/dysmorphic syndrome
rare developmental anomalies during embryogenesis - ORPHA:202948Syndromic microphthalmia-anophthalmia-coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8484406[PMID] |
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 8484406[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
15 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100490 | Camptodactyly of finger | |
| HP:0002007 | Frontal bossing | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000347 | Micrognathia | |
| HP:0000568 | Microphthalmia | |
| HP:0008551 | Microtia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0003196 | Short nose | |
| Frequent (79-30%) | ||
| HP:0000014 | Abnormality of the bladder | |
| HP:0010935 | Abnormality of the upper urinary tract | |
| HP:0100867 | Duodenal stenosis | |
| HP:0000072 | Hydroureter | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0001561 | Polyhydramnios | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
Run the differential on the 8 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2547
- This record as JSON: /data/d/2547.json