ORPHA:2496
Mesomelia-synostoses syndrome
Synonyms: 8q13 microdeletion syndrome · Del(8)q(13) · Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type · Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type · Monosomy 8q13 · Verloes-David syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare syndromic osteochondrodysplasia characterized by progressive mesomelia and bony fusions in the extremities, distinctive facial gestalt, and soft palate anomalies.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mesomelia-synostoses syndrome | 8q13 microdeletion syndrome · Del(8)q(13) · Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type · Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type · Monosomy 8q13 · Verloes-David syndrome |
| fr | Syndrome de mésomélie-synostoses | Del(8)q(13) · Dysplasie mésomélique avec synostoses acrales type Verloes-David-Pfeiffer · Monosomie 8q13 · Syndrome de Verloes-David · Syndrome de microdélétion 8q13 · Syndrome de mésomélie-synostoses type Verloes-David-Pfeiffer |
| de | Mesomelie-Synostosen-Syndrom | Del(8)q(13) · Mesomele Dysplasie mit akralen Synostosen vom Verloes-David-Pfeiffer Typ · Mesomelie-Synostosen-Syndrom Typ Verloes-David-Pfeiffer · Monosomie 8q13 · Verloes-David-Syndrom |
| es | Síndrome de mesomelia-sinostosis | Del(8)q(13) · Displasia mesomélica con sinostosis acral, tipo Verloes-David-Pfeiffer · Monosomía 8q13 · Síndrome de Verloes-David · Síndrome de mesomelia-sinostosis, tipo Verloes-David-Pfeiffer · Síndrome de microdeleción 8q13 |
| it | Sindrome mesomelia-sinostosi | Del(8)q(13) · Displasia mesomelica con sinostosi acrali, tipo Verloes-David-Pfeiffer · Monosomia 8q13 · Sindrome da microdelezione 8q13 · Sindrome di Verloes-David · Sindrome mesomelia-sinostosi, tipo Verloes-David-Pfeiffer |
| nl | Mesomelie - synostosen-syndroom | 8q13-microdeletiesyndroom · Del(8)q(13) · Mesomele dysplasie met acrale synostosen, Verloes-David-Pfeiffer-type · Mesomelie - synostosen-syndroom, Verloes-David-Pfeiffer-type · Monosomie 8q13 · Syndroom van Verloes-David |
| pt | Síndrome de mesomelia-sinostoses | Monossomia 8q13 · Síndrome Verloes-David · Síndrome de mesomelia-sinostoses, tipo Verloes-David-Pfeiffer |
| pl | Zespół mezomelia-synostoza | Del(8)q(13) · Dysplazja mezomeliczna z synostozą kończynową, typu Verloesa, Davida i Pfeiffera · Monosomia 8q13 · Zespół mezomelia-synostoza, typu Verloesa, Davida i Pfeiffera · Zespół mikrodelecji 8q13 · Zespół Verloesa i Davida |
| cs | Syndrom zahrnující mezomelii a synostózy | Del(8)q(13) · Monozomie 8q13 · 8q13 mikrodeleční syndrom · Syndrom zahrnující mezomelii a synostózy, Verloesův-Davidův-Pfeifferův typ · Mezomelická dysplázie s akrálními synostózami, Verloesův-Davidův-Pfeifferův typ · Verloesův-Davidův syndrom · Syndrom zahrnující mezomelii a synostózy, Verloes-David-Pfeifferův typ · Mezomelická dysplázie s akrálními synostózami, Verloes-David-Pfeifferův typ · Verloes-Davidův syndrom |
| uk | Синдром мезомелії-синостозів | Синдром мікроделеції 8q13 · Del(8)q(13) · Синдром мезомелії-синостозів, тип Верлоеса-Давида-Пфайффера · Мезомелічна дисплазія з акральними синостозами, тип Верлоеса-Давида-Пфайфера · Моносомія 8q13 · Синдром Верлоєса-Давида |
| zh | Mesomelia-synostoses综合征 | 肢中骨发育不良伴肢端骨性结合Verloes-David-Pfeiffer型 |
| tr | Mezomeli-sinostoz sendromu | Del (8) q (13) · Monozomi 8q13 · Verloes-David sendromu · 8q13 mikrodelesyon sendromu · Mezomeli-sinostoz sendromu, Verloes-David-Pfeiffer tipi · Akral sinostozlu mezomelik displazi, Verloes-David-Pfeiffer tipi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600383 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.9 | NTBT | index | validated |
| MONDO | 0010881 | E | validated | |
| MeSH | C537348 | E | validated | |
| UMLS | C1838162 | E | validated | |
| GARD | 4302 | 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:93437Acromesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:262065Partial deletion of the long arm of chromosome 8 syndrome
rare developmental anomalies during embryogenesis; rare genetic 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 | 10 cases | Worldwide | Case(s) | Validated | 30450550[PMID]_ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19725128[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
41 annotations · validated 2017-12-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001760 | Abnormal foot morphology | |
| HP:0031095 | Abnormal humerus morphology | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0002992 | Abnormality of tibia morphology | |
| HP:0010293 | Aplasia/Hypoplasia of the uvula | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002705 | High, narrow palate | |
| HP:0001387 | Joint stiffness | |
| HP:0003027 | Mesomelia | |
| HP:0001440 | Metatarsal synostosis | |
| HP:0000347 | Micrognathia | |
| HP:0002983 | Micromelia | |
| HP:0000508 | Ptosis | |
| HP:0001773 | Short foot | |
| HP:0004322 | Short stature | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0100240 | Synostosis of joints | |
| HP:0000506 | Telecanthus | |
| HP:0009465 | Ulnar deviation of finger | |
| Frequent (79-30%) | ||
| HP:0002823 | Abnormality of femur morphology | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000534 | Abnormal eyebrow morphology | |
| HP:0000190 | Abnormal oral frenulum morphology | |
| HP:0003028 | Abnormality of the ankles | |
| HP:0002815 | Abnormality of the knee | |
| HP:0000414 | Bulbous nose | |
| HP:0000444 | Convex nasal ridge | |
| HP:0002857 | Genu valgum | |
| HP:0000365 | Hearing impairment | |
| HP:0000126 | Hydronephrosis | |
| HP:0000343 | Long philtrum | |
| HP:0000272 | Malar flattening | |
| HP:0000545 | Myopia | |
| HP:0000160 | Narrow mouth | |
| HP:0000325 | Triangular face | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2496
- This record as JSON: /data/d/2496.json