ORPHA:163654
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
Synonyms: SED-BDS · Spondyloepiphyseal dysplasia, Cantu type · Tattoo dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia).
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome | SED-BDS · Spondyloepiphyseal dysplasia, Cantu type · Tattoo dysplasia |
| fr | Syndrome de dysplasie spondylo-épiphysaire-brachydactylie-trouble du langage | Dysplasie spondylo-épiphysaire, type Cantu |
| de | Spondyloepiphysäre Dysplasie-Brachydaktylie-Sprachstörung-Syndrom | SED-BDS · Spondyloepiphysäre Dysplasie, Typ Cantu · Tattoo-Dysplasie |
| es | Síndrome de displasia espondiloepifisaria-braquidactilia-trastorno del habla | Displasia en tatuaje · Displasia espondiloepifisaria tipo Cantu |
| it | Sindrome da displasia spondiloepifisaria-brachidattilia-disturbo del linguaggio | Displasia a tatuaggio · Displasia spondiloepifisaria, tipo Cantu · SED-BDS |
| nl | Spondylo-epifysaire dysplasie - brachydactylie - spraakstoornis-syndroom | SED-BDS · Spondylo-epifysaire dysplasie, Cantu-type · Tattoo-dysplasie |
| pt | Síndrome de displasia espondiloepifisária-braquidactilia-perturbação da linguagem | Displasia espondiloepifisária, tipo Cantu · Displasia tattoo · SED-BDS |
| pl | Dysplazja kręgowo-nasadowa, typ Cantu | Dysplazja kręgowo-nasadowa - brachydaktylia - zaburzenia mowy · Dysplazja Tattoo · SED-BDS · Zespół Fantasy Island |
| cs | Spondyloepifyzární dysplázie, Cantuův typ | SED-BDS · Tattoova dysplázie · Syndrom zahrnující spondyloepifyzární dysplázii, brachydaktylii a poruchy řeči |
| uk | Спондилоепіфізарна дисплазія-брахідактилія-синдром розладу мовлення | SED-BDS · Спондилоепіфізарна дисплазія, тип Канту · Дисплазія татуювання |
| zh | Cantu 型脊柱骨骺发育不良 | 脊柱骨骺发育不良-短指-言语障碍综合征 |
| tr | Spondiloepifizyal displazi, Cantu tipi | SED-BDS · Dövme displazisi · Spondiloepifizeal displazi-brakidaktili-konuşma bozukluğu sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 611717 | E | validated | |
| ICD-10 | Q77.7 | NTBT | attributed | validated |
| ICD-11 | LD24.3 | NTBT | index | validated |
| MONDO | 0012716 | E | validated | |
| MeSH | C567128 | E | validated | |
| UMLS | C2673649 | E | validated | |
| GARD | 10629 | 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 (1):
- ORPHA:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 17515304[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17515304[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
39 annotations · validated 2017-05-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001832 | Abnormal metatarsal morphology | |
| HP:0000174 | Abnormal palate morphology | |
| HP:0000306 | Abnormality of the chin | |
| HP:0001608 | Abnormality of the voice | |
| HP:0000463 | Anteverted nares | |
| HP:0009103 | Aplasia/Hypoplasia involving the pelvis | |
| HP:0000581 | Blepharophimosis | |
| HP:0001156 | Brachydactyly | |
| HP:0005622 | Broad long bones | |
| HP:0000475 | Broad neck | |
| HP:0000028 | Cryptorchidism | |
| HP:0002967 | Cubitus valgus | |
| HP:0004634 | Cuboid-shaped vertebral bodies | |
| HP:0007665 | Curly eyelashes | |
| HP:0002212 | Curly hair | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0100625 | Enlarged thorax | |
| HP:0009937 | Facial hirsutism | |
| HP:0008839 | Hypoplastic pelvis | |
| HP:0006394 | Limited pronation/supination of forearm | |
| HP:0000343 | Long philtrum | |
| HP:0002162 | Low posterior hairline | |
| HP:0008551 | Microtia | |
| HP:0008496 | Multiple rows of eyelashes | |
| HP:0002164 | Nail dysplasia | |
| HP:0011829 | Narrow philtrum | |
| HP:0000767 | Pectus excavatum | |
| HP:0005069 | Rhizo-meso-acromelic limb shortening | |
| HP:0003026 | Short long bone | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0010306 | Short thorax | |
| HP:0000574 | Thick eyebrow | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0000215 | Thick upper lip vermilion | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
Annotation source: 17515304[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/163654
- This record as JSON: /data/d/163654.json