ORPHA:2631
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
historical
Synonyms: Mesomelic dysplasia, Kozlowski-Reardon type · Mesomelic dysplasia, Reardon type · Reardon-Hall-Slaney syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mesomelic shortening and bowing of the limbs, camptodactyly, skin dimpling and cleft palate with retrognathia and mandibular hypoplasia. Fatal course due to cardiorespiratory arrest has also been reported. There have been no further descriptions in the literature since 1993.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mesomelic dwarfism-cleft palate-camptodactyly syndrome | Mesomelic dysplasia, Kozlowski-Reardon type · Mesomelic dysplasia, Reardon type · Reardon-Hall-Slaney syndrome |
| fr | Syndrome de nanisme mésomélique-fente palatine-camptodactylie | Syndrome de Reardon-Hall-Slaney |
| de | Mesomeler Kleinwuchs-Gaumenspalte-Kamptodaktylie-Syndrom | Dysplasie, mesomele, Typ Kozlowski-Reardon · Dysplasie, mesomele, Typ Reardon · Reardon-Hall-Slaney-Syndrom |
| es | Síndrome de displasia mesomélica-paladar hendido-camptodactilia | Displasia mesomélica tipo Kozlowski-Reardon · Displasia mesomélica tipo Reardon · Síndrome de Reardon-Hall-Slaney · Síndrome de enanismo mesomélico-paladar hendido-camptodactilia |
| it | Nanismo mesomelico - palatoschisi - camptodattilia | Sindrome di Reardon-Hall-Slaney |
| nl | Mesomele dwerggroei - gespleten verhemelte - camptodactylie-syndroom | Mesomele dysplasie, Kozlowski-Reardon-type · Mesomele dysplasie, Reardon-type · Syndroom van Reardon-Hall-Slaney |
| pt | Síndrome de nanismo mesomélico-fenda do palato-camptodactilia | Síndrome Reardon-Hall-Slaney |
| pl | Niskorosłość mezomeliczna - rozszczep podniebienia - kampodaktylia | Zespół Reardona, Halla i Slaney'a |
| cs | Syndrom zahrnující mezomelické trpaslictví, rozštěp patra a kamptodaktylii | Reardonův-Hallové-Slaneyové syndrom · Reardon-Hall-Slaneyové syndrom |
| uk | Синдром мезомелічної карликовості-розщілини піднебіння-камптодактилії | Мезомелічна дисплазія, тип Козловського-Рірдона · Мезомелічна дисплазія, тип Ріардона · Синдром Рірдона-Холла-Слейні |
| zh | 肢中性侏儒-腭裂-屈曲指综合征 | 肢中骨发育不良，Kozlowski-Reardon型 |
| tr | Mezomelik cücelik-yarık damak-kamptodaktili sendromu | Reardon-Hall-Slaney sendromu · Mezomelik displazi, Reardon tipi · Mezomelik displazi, Kozlowski-Reardon tipi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 249710 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | index | validated |
| MONDO | 0009589 | E | validated | |
| MeSH | C535294 | E | validated | |
| UMLS | C2930871 | E | validated | |
| GARD | 3552 | 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 (4):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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 | 2 cases | Worldwide | Case(s) | Validated | 8267013[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8267013[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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003272 | Abnormality of the hip bone | |
| HP:0006487 | Bowing of the long bones | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000175 | Cleft palate | |
| HP:0003042 | Elbow dislocation | |
| HP:0003027 | Mesomelia | |
| HP:0000278 | Retrognathia | |
| HP:0010781 | Skin dimple | |
| Frequent (79-30%) | ||
| HP:0002101 | Abnormal lung lobation | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0000396 | Overfolded helix | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000233 | Thin vermilion border | |
| HP:0003422 | Vertebral segmentation defect | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2631
- This record as JSON: /data/d/2631.json