Multiple epiphyseal dysplasia type 4
Synonyms: Autosomal recessive multiple epiphyseal dysplasia · EDM4 · MED4 · Polyepiphyseal dysplasia type 4 · rMED
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Multiple epiphyseal dysplasia type 4 | Autosomal recessive multiple epiphyseal dysplasia · EDM4 · MED4 · Polyepiphyseal dysplasia type 4 · rMED |
| fr | Dysplasie épiphysaire multiple type 4 | Dysplasie polyépiphysaire autosomique récessive · Dysplasie polyépiphysaire type 4 · Dysplasie épiphysaire multiple autosomique récessive · rMED |
| de | Dysplasie, epiphysäre multiple, Typ 4 | Autosomal-rezessive multiple epiphysäre Dysplasie · Dysplasie, polyepiphysäre, Typ 4 · EDM4 · MED4 · rMED |
| es | Displasia epifisaria múltiple tipo 4 | Displasia epifisaria múltiple autosómica recesiva · Displasia poliepifisaria tipo 4 · EDM4 · MED4 · rMED |
| it | Displasia epifisaria multipla, tipo 4 | Displasia epifisaria multipla autosomica recessiva · Displasia poliepifisaria, tipo 4 · EDM4 · MED4 · rMED |
| nl | Multipele epifysaire dysplasie type 4 | Autosomaal recessieve multipele epifysaire dysplasie · EDM4 · MED4 · Polyepifysaire dysplasie type 4 · rMED |
| pt | Displasia epifisária múltipla, tipo 4 | |
| pl | Dysplazja wielonasadowa typu 4 | Autosomalna recesywna dysplazja wielonasadowa · EDM4 · MED4 · rMED |
| cs | Mnohočetná epifyzární dysplázie, typ 4 | EDM4 · MED4 · Polyepifyzární dysplázie, typ 4 · rMED · Autozomálně recesivní mnohočetná epifyzární dysplázie |
| uk | Множинна епіфізарна дисплазія, тип 4 | Аутосомно-рецесивна множинна епіфізарна дисплазія · EDM4 · MED4 · Поліепіфізарна дисплазія типу 4 · rMED |
| zh | 多发性骨骺发育不良4型 | 常染色体显性遗传多发性骨骺发育不良 |
| tr | Çoklu epifizyal displazi tip 4 | EDM4 · MED4 · rMED · Poliepifizyal displazi tip 4 · Otozomal Çekinik çoklu epifizyal displazi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 226900 | E | validated | |
| ICD-10 | Q77.3 | NTBT | attributed | validated |
| ICD-11 | LD24.61 | NTBT | index | validated |
| MONDO | 0009189 | E | validated | |
| MeSH | C535504 | E | validated | |
| UMLS | C1847593 | E | validated | |
| GARD | 9793 | 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 (2):
- ORPHA:251Multiple epiphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93423Sulfation-related bone disorder
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC26A2 | Disease-causing germline mutation(s) in | Assessed | HGNC:10994 | ENSG00000155850 | 606718 | 5q32 | solute carrier family 26 member 2 | 20301483[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_18328978[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
58 annotations · validated 2021-07-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002829 | Arthralgia | |
| HP:0002654 | Multiple epiphyseal dysplasia | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0008807 | Acetabular dysplasia | |
| HP:0003365 | Arthralgia of the hip | |
| HP:0001776 | Bilateral talipes equinovarus | |
| HP:0001156 | Brachydactyly | |
| HP:0002812 | Coxa vara | |
| HP:0003498 | Disproportionate short stature | |
| HP:0031174 | Double-layered patella | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0003071 | Flattened epiphysis | |
| HP:0030289 | Flattened femoral epiphysis | |
| HP:0001371 | Flexion contracture | |
| HP:0002857 | Genu valgum | |
| HP:0001387 | Joint stiffness | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000347 | Micrognathia | |
| HP:0008848 | Moderately short stature | |
| HP:0003088 | Premature osteoarthritis | |
| HP:0001762 | Talipes equinovarus | |
| HP:0009824 | Upper limb undergrowth | |
| HP:0002515 | Waddling gait | |
| Occasional (29-5%) | ||
| HP:0040072 | Abnormal forearm bone morphology | |
| HP:0005922 | Abnormal hand morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000363 | Abnormality of earlobe | |
| HP:0004037 | Abnormality of the ulnar epiphyses | |
| HP:0031878 | Acromicria | |
| HP:0031006 | Acroparesthesia | |
| HP:0006429 | Broad femoral neck | |
| HP:0001769 | Broad foot | |
| HP:0002947 | Cervical kyphosis | |
| HP:0000175 | Cleft palate | |
| HP:0009471 | Contracture of the proximal interphalangeal joint of the 3rd finger | |
| HP:0008829 | Delayed femoral head ossification | |
| HP:0004002 | Flattened radial epiphyses | |
| HP:0000218 | High palate | |
| HP:0002827 | Hip dislocation | |
| HP:0001385 | Hip dysplasia | |
| HP:0008434 | Hypoplastic cervical vertebrae | |
| HP:0000369 | Low-set ears | |
| HP:0003016 | Metaphyseal widening | |
| HP:0001440 | Metatarsal synostosis | |
| HP:0002986 | Radial bowing | |
| HP:0008905 | Rhizomelia | |
| HP:0002650 | Scoliosis | |
| HP:0100864 | Short femoral neck | |
| HP:0009381 | Short finger | |
| HP:0010049 | Short metacarpal | |
| HP:0010743 | Short metatarsal | |
| HP:0009778 | Short thumb | |
| HP:0001831 | Short toe | |
| HP:0032649 | Skewfoot | |
| HP:0025264 | Stiff ankle | |
| HP:0003031 | Ulnar bowing | |
| HP:0009487 | Ulnar deviation of the hand | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 20301483[PMID]_30423444[PMID]_29024831[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93307
- This record as JSON: /data/d/93307.json