Dyssegmental dysplasia, Silverman-Handmaker type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia disorder, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dyssegmental dysplasia, Silverman-Handmaker type | |
| fr | Dysplasie dyssegmentaire type Silverman-Handmaker | |
| de | Dysplasie, dyssegmentale, Typ Silverman-Handmaker | |
| es | Displasia disegmentaria tipo Silverman-Handmaker | |
| it | Displasia dissegmentaria, tipo Silverman Handmaker | |
| nl | Dyssegmentale dysplasie, Silverman-Handmaker-type | |
| pt | Displasia dissegmentar, tipo Silverman-Handmaker | |
| pl | Dysplazja typu Silvermana i Handmakera | |
| cs | Dyssegmentální dysplázie, Silvermanův-Handmakerův typ | Dyssegmentální dysplázie, Silverman-Handmakerův typ |
| uk | Диссегментарна дисплазія, тип Сільвермана-Хендмейкера | |
| zh | 节段性发育异常，Silverman-Handmaker型 | |
| tr | Dissegmental displazi, Silverman-Handmaker tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 224410 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0009140 | E | validated | |
| MeSH | C537998 | E | validated | |
| UMLS | C1857100 | E | validated | |
| GARD | 2026 | 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 (3):
- ORPHA:674499Proteoglycan-related bone disorder
rare genetic diseases - ORPHA:519296Rare disorder with pigmented sclera
rare genetic diseases; rare ophthalmic disorders - ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HSPG2 | Disease-causing germline mutation(s) in | Assessed | HGNC:5273 | ENSG00000142798 | 142461 | 1p36.12 | heparan sulfate proteoglycan 2 | 11279527[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20542149[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
41 annotations · validated 2021-07-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0040064 | Abnormality of limbs | |
| HP:0002879 | Anisospondyly | |
| HP:0002979 | Bowing of the legs | |
| HP:0012368 | Flat face | |
| HP:0009826 | Limb undergrowth | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0002983 | Micromelia | |
| HP:0000774 | Narrow chest | |
| HP:0003510 | Severe short stature | |
| HP:0003026 | Short long bone | |
| HP:0000470 | Short neck | |
| HP:0005268 | Spontaneous abortion | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0000119 | Abnormality of the genitourinary system | |
| HP:0005622 | Broad long bones | |
| HP:0000175 | Cleft palate | |
| HP:0100759 | Clubbing of fingers | |
| HP:0000028 | Cryptorchidism | |
| HP:0000519 | Developmental cataract | |
| HP:0002084 | Encephalocele | |
| HP:0001371 | Flexion contracture | |
| HP:0001007 | Hirsutism | |
| HP:0000238 | Hydrocephalus | |
| HP:0001789 | Hydrops fetalis | |
| HP:0000946 | Hypoplastic ilia | |
| HP:0003175 | Hypoplastic ischia | |
| HP:0003173 | Hypoplastic pubic bone | |
| HP:0032548 | Increased placental thickness | |
| HP:0000369 | Low-set ears | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000520 | Proptosis | |
| HP:0001059 | Pterygium | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0000773 | Short ribs | |
| HP:0001195 | Single umbilical artery | |
| HP:0000431 | Wide nasal bridge | |
Annotation source: 32936525[PMID]_20542149[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1865
- This record as JSON: /data/d/1865.json