Cleft palate-short stature-vertebral anomalies syndrome
Synonyms: Mathieu-De Broca-Bony syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies syndrome characterized by the association of cleft palate, peculiar facies (asymmetrical appearance, inner epicanthal folds, short nose, anteverted nostrils, low and back-oriented ears, thin upper lip and micrognathism), short stature, short neck , vertebral anomalies and intellectual disability. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cleft palate-short stature-vertebral anomalies syndrome | Mathieu-De Broca-Bony syndrome |
| fr | Syndrome de fente palatine-petite taille-anomalies vertébrales | Syndrome de Mathieu-De Broca-Bony · Syndrome de fente palatine-petite taille-anomalies des vertèbres |
| de | Gaumenspalte-Kleinwuchs-Wirbelanomalien-Syndrom | Mathieu-de-Broca-Bony-Syndrom |
| es | Síndrome de paladar hendido-talla baja-anomalías de las vértebras | Síndrome de Mathieu-de Broca-Bony |
| it | Palatoschisi - bassa statura - anomalie delle vertebre | Sindrome di Mathieu-De Broca-Bony |
| nl | Gespleten gehemelte - kleine gestalte - vertebrale anomalieën-syndroom | Syndroom van Mathieu-De Broca-Bony |
| pt | Síndrome de fenda palatina-baixa estatura-anomalias vertebrais | Síndrome Mathieu-de Broca-Bony |
| pl | Rozszczep podniebienia - niski wzrost - anomalie kręgów | Zespół Mathieu, De Broca i Bony |
| cs | Syndrom zahrnující rozštěp patra, malý vzrůst a anomálie obratlů | Mathieuův-De Brocův-Bonyův syndrom · Mathieu-De Broca-Bonyův syndrom |
| uk | Синдром розщілини піднебіння - низькорослості-аномалії хребта | Синдром Матьє-Де-Брока-Боні |
| zh | 腭裂-身材矮小-椎骨畸形综合征 | Mathieu-De Broca-Bony 综合征 |
| tr | Yarık damak-kısa boy-vertebral anomaliler sendromu | Mathieu-De Broca-Bony sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0016065 | E | validated | |
| UMLS | C4304704 | E | validated | |
| GARD | 1392 | 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:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 8110419[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8110419[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
11 annotations · validated 2019-03-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0000463 | Anteverted nares | |
| HP:0000175 | Cleft palate | |
| HP:0000286 | Epicanthus | |
| HP:0001249 | Intellectual disability | |
| HP:0000347 | Micrognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0000219 | Thin upper lip vermilion | |
Annotation source: 8110419[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2015
- This record as JSON: /data/d/2015.json