Spondyloepimetaphyseal dysplasia, Handigodu type
- Type
- Disease
- Group
- Disorder
- Age of onset
- Adolescent, Adult, Childhood
- Status
- active
Spondyloepimetaphyseal dysplasia, Handigodu type is a rare, genetic, primary bone dysplasia disorder characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dysplastic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces, as well as sclerotic and cystic changes on imaging.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepimetaphyseal dysplasia, Handigodu type | |
| fr | Dysplasie spondylo-épimétaphysaire type Handigodu | |
| de | Dysplasie, spondyloepimetaphysäre, Typ Handigodu | |
| es | Displasia espondiloepimetafisaria tipo Handigodu | |
| it | Displasia spondiloepimetafisaria, tipo Handigodu | |
| nl | Spondylo-epimetafysaire dysplasie, Handigodu-type | |
| pt | Displasia espondiloepimetafisária, tipo Handigodu | |
| pl | Dysplazja kręgowo-nasadowo-przynasadowa, typ Handigodu | |
| cs | Spondyloepimetafyzární dysplázie, typ Handigodu | |
| uk | Спондилоепіметафізарна дисплазія, тип Хандигоду | |
| zh | 脊柱骨骺干骺端发育不良Hangdigodu型 | |
| tr | Spondiloepimetafizyal displazi, Handigodu tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 613343 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0013233 | E | validated | |
| UMLS | C3150545 | E | validated | |
| GARD | 10741 | 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:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
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 |
| Cases/families | 234 cases | Worldwide | Case(s) | Validated | 7886470[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
29 annotations · validated 2021-03-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003365 | Arthralgia of the hip | |
| HP:0008843 | Hip osteoarthritis | |
| HP:0008800 | Limited hip movement | |
| Frequent (79-30%) | ||
| HP:0000924 | Abnormality of the skeletal system | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0009046 | Difficulty running | |
| HP:0003521 | Disproportionate short-trunk short stature | |
| HP:0010575 | Dysplasia of the femoral head | |
| HP:0001288 | Gait disturbance | |
| HP:0003273 | Hip contracture | |
| HP:0030043 | Hip subluxation | |
| HP:0004594 | Hump-shaped mound of bone in central and posterior portions of vertebral endplate | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000926 | Platyspondyly | |
| HP:0003179 | Protrusio acetabuli | |
| HP:0004322 | Short stature | |
| Occasional (29-5%) | ||
| HP:0005108 | Abnormal intervertebral disk morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0002815 | Abnormality of the knee | |
| HP:0006429 | Broad femoral neck | |
| HP:0004026 | Broad radial metaphysis | |
| HP:0002812 | Coxa vara | |
| HP:0008812 | Flattened femoral head | |
| HP:0001385 | Hip dysplasia | |
| HP:0030839 | Knee pain | |
| HP:0003510 | Severe short stature | |
| HP:0100864 | Short femoral neck | |
| HP:0002515 | Waddling gait | |
| HP:0006387 | Wide distal femoral metaphysis | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 9375727[PMID]_20607037[PMID]_22116201[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/99642
- This record as JSON: /data/d/99642.json