Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Synonyms: IDMDC
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome is a rare, genetic, syndromic intellectual disabilty disorder characterized by severe intellectual disability, progressive, postnatal, multiple joint contractures and severe motor dysfunction. Patients present arrest and regression of motor function and speech acquisition, as well as contractures which begin in lower limbs and slowly progress in an ascending manner to include spine and neck, resulting in individuals presenting a specific fixed position.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome | IDMDC |
| fr | Syndrome de déficience intellectuelle récessive-dysfonctionnement moteur-contractures articulaires multiples | = en |
| de | Intelligenzminderung - motorische Dysfunktion - multiple Gelenkkontrakturen, rezessiv | = en |
| es | Síndrome de discapacidad intelectual recesiva-disfunción motora-contracturas articulares múltiples | = en |
| it | Sindrome da disabilità intellettiva recessiva, disfunzione motoria e contratture articolari multiple | = en |
| nl | Recessieve intellectuele achterstand - motorische disfunctie - meervoudige gewrichtscontracturen-syndroom | = en |
| pt | Síndrome de perturbação do desenvolvimento intelectual recessiva-disfunção motora-contraturas articulares múltiplas | = en |
| pl | Recesywny zespół z niepełnosprawnością intelektualną, dysfunkcją ruchową i mnogimi przykurczami stawowymi | = en |
| cs | Syndrom zahrnující recesivní mentální retardaci, motorickou dysfunkci a mnohočetné kloubní kontraktury | = en |
| uk | Рецесивний синдром розумової відсталості- моторної дисфункції-множинних контрактур суглобів | = en |
| zh | 隐性智力障碍-运动功能障碍-多关节挛缩综合征 | = en |
| tr | Resesif zihinsel yetersizlik-motor disfonksiyonu-çoklu eklem kontraktür sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q68.8 | NTBT | attributed | validated |
| MONDO | 0017232 | E | validated | |
| UMLS | C4749580 | 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 (1):
- ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ERLIN2 | Disease-causing germline mutation(s) in | Assessed | HGNC:1356 | ENSG00000147475 | 611605 | 8p11.23 | ER lipid raft associated 2 | 21330303[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 21330303[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
20 annotations · validated 2019-10-04| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001344 | Absent speech | |
| HP:0002376 | Developmental regression | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0003121 | Limb joint contracture | |
| Frequent (79-30%) | ||
| HP:0006466 | Ankle flexion contracture | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0006380 | Knee flexion contracture | |
| HP:0000158 | Macroglossia | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0100712 | Abnormal lumbar spine morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0011448 | Ankle clonus | |
| HP:0002015 | Dysphagia | |
| HP:0002378 | Hand tremor | |
| HP:0000218 | High palate | |
| HP:0007350 | Hyperreflexia in upper limbs | |
| HP:0000322 | Short philtrum | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 21330303[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/280384
- This record as JSON: /data/d/280384.json