ORPHA:628
Diastrophic dysplasia
Synonyms: Diastrophic dwarfism
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare osteochondrodysplasia characterized by shortened limbs, normal sized head, short stature with short extremities (final adult height is 120cm +/- 20cm), spinal deformities and joint malformations leading to multiple joint contractures (principally involving the shoulders, elbows, interphalangeal joints and hips). The name indicates the ''twisted'' appearance of the spine and limbs in severe forms that is peculiar of this condition.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Diastrophic dysplasia | Diastrophic dwarfism |
| fr | Nanisme diastrophique | Dysplasie diastrophique |
| de | Dysplasie, diastrophe | Kleinwuchs, diastrophischer |
| es | Displasia diastrófica | Enanismo diastrófico |
| it | Displasia diastrofica | Nanismo diastrofico |
| nl | Diastrofische dysplasie | Diastrofische dwerggroei |
| pt | Displasia diastrófica | Nanismo diastrófico |
| pl | Karłowatość/Niskorosłość diastroficzna | Dysplazja diastroficzna |
| cs | Diastrofický dwarfismus | Diastrofická dysplázie |
| uk | Діастрофічна дисплазія | Діастрофічна карликовість |
| zh | 畸形性侏儒 | 畸型发育不全 |
| tr | Diastrofik cücelik | Diyastrofik displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 222600 | E | validated | |
| ICD-10 | Q77.5 | E | specific | validated |
| ICD-11 | LD24.03 | E | specific | validated |
| MONDO | 0009107 | E | validated | |
| MeSH | C536170 | E | validated | |
| UMLS | C0220726 | E | validated | |
| GARD | 6275 | E | validated | |
| MedDRA | 10081228 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:364536Primary bone dysplasia with micromelia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:93423Sulfation-related bone disorder
rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC26A2 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10994 | ENSG00000155850 | 606718 | 5q32 | solute carrier family 26 member 2 | 20301524[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.2 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Prevalence at birth | 1-9 / 1 000 000 | 0.3 / 100 000 | Europe | Value and class | Validated | EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER] |
| Point prevalence | 1-9 / 100 000 | 3.03 / 100 000 | Finland | Value and class | Validated | 1948373[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.
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HPO phenotypes
64 annotations · validated 2024-04-03| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000889 | Abnormality of the clavicle | |
| HP:0006487 | Bowing of the long bones | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0008434 | Hypoplastic cervical vertebrae | |
| HP:0011001 | Increased bone mineral density | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0009748 | Large earlobe | |
| HP:0000256 | Macrocephaly | |
| HP:0002983 | Micromelia | |
| HP:0011800 | Midface retrusion | |
| HP:0008921 | Neonatal short-limb short stature | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0002650 | Scoliosis | |
| HP:0009381 | Short finger | |
| HP:0004322 | Short stature | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| Frequent (79-30%) | ||
| HP:0000592 | Blue sclerae | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0002947 | Cervical kyphosis | |
| HP:0005857 | Cervical spina bifida | |
| HP:0000175 | Cleft palate | |
| HP:0000293 | Full cheeks | |
| HP:0002857 | Genu valgum | |
| HP:0001385 | Hip dysplasia | |
| HP:0001234 | Hitchhiker thumb | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0034392 | Joint contracture | |
| HP:0001373 | Joint dislocation | |
| HP:0001387 | Joint stiffness | |
| HP:0002808 | Kyphosis | |
| HP:0002938 | Lumbar hyperlordosis | |
| HP:0000396 | Overfolded helix | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0001852 | Sandal gap | |
| HP:0001762 | Talipes equinovarus | |
| HP:0005619 | Thoracolumbar kyphosis | |
| HP:0009465 | Ulnar deviation of finger | |
| HP:0000430 | Underdeveloped nasal alae | |
| Occasional (29-5%) | ||
| HP:0006536 | Airway obstruction | |
| HP:0001156 | Brachydactyly | |
| HP:0000337 | Broad forehead | |
| HP:0002514 | Cerebral calcification | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0003042 | Elbow dislocation | |
| HP:0000365 | Hearing impairment | |
| HP:0009890 | High anterior hairline | |
| HP:0000974 | Hyperextensible skin | |
| HP:0001382 | Joint hypermobility | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0000460 | Narrow nose | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0002176 | Spinal cord compression | |
| HP:0000402 | Stenosis of the external auditory canal | |
| HP:0100761 | Visceral angiomatosis | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301524[PMID]_23657516[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/628
- This record as JSON: /data/d/628.json