ORPHA:1292
Brachymorphism-onychodysplasia-dysphalangism syndrome
Synonyms: BOD syndrome · Senior syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide mouth and broad nose, and mild intellectual disability. It has been suggested that Coffin-Siris syndrome and BOD syndrome are perhaps allelic variants.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Brachymorphism-onychodysplasia-dysphalangism syndrome | BOD syndrome · Senior syndrome |
| fr | Syndrome de brachymorphie-onychodysplasie-dysphalangie | Syndrome BOD · Syndrome de Senior |
| de | Brachymorphie-Onychodysplasie-Dysphalangie-Syndrom | BOD-Syndrom · Senior-Syndrom |
| es | Síndrome de braquimorfismo-oncodisplasia-disfalangismo | Síndrome de Bod · Síndrome de Senior |
| it | Brachimorfismo - onicodisplasia - disfalangismo | Sindrome BOD · Sindrome di Senior |
| nl | Brachymorfie - onychodysplasie - dysfalangie-syndroom | BOD-syndroom · Syndroom van Senior |
| pt | Síndrome de braquimorfismo-onicodisplasia-disfalangia | Síndrome BOD · Síndrome sénior |
| pl | Brachymorphism - dysplazja paznokci - dysphalangism | Zespół BOD · Zespół Seniora |
| cs | Syndrom zahrnující brachymorfismus, onychodysplázii a dysfalangismus | BOD syndrom · Seniorův syndrom |
| uk | Синдром брахіморфізму-оніходисплазії-дисфалангізму | Синдром BOD · Синдром Сеньора |
| zh | 短指畸形-甲发育不良-指（趾）骨发育不全综合征 | Senior综合征 |
| tr | Brakimorfizm-onikodisplazi-disfalangizm sendromu | BOD sendromu · Senior sendrom |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 113477 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0007230 | E | validated | |
| MeSH | C536242 | E | validated | |
| UMLS | C1862082 | E | validated | |
| GARD | 918 | 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 (5):
- ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological 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 | 9 cases | Worldwide | Case(s) | Validated | 5567413[PMID]_8445623[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_5567413[PMID]_8445623[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
38 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001817 | Absent fingernail | |
| HP:0001802 | Absent toenail | |
| HP:0001156 | Brachydactyly | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0100798 | Fingernail dysplasia | |
| HP:0008398 | Hypoplastic fifth fingernail | |
| HP:0001804 | Hypoplastic fingernail | |
| HP:0001800 | Hypoplastic toenails | |
| HP:0000343 | Long philtrum | |
| HP:0000252 | Microcephaly | |
| HP:0001857 | Short distal phalanx of toe | |
| HP:0004322 | Short stature | |
| HP:0100797 | Toenail dysplasia | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0004422 | Biparietal narrowing | |
| HP:0000286 | Epicanthus | |
| HP:0002007 | Frontal bossing | |
| HP:0000348 | High forehead | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000272 | Malar flattening | |
| HP:0000307 | Pointed chin | |
| HP:0000448 | Prominent nose | |
| HP:0000486 | Strabismus | |
| HP:0000325 | Triangular face | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0002086 | Abnormality of the respiratory system | |
| HP:0001631 | Atrial septal defect | |
| HP:0000248 | Brachycephaly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000280 | Coarse facial features | |
| HP:0002230 | Generalized hirsutism | |
| HP:0009890 | High anterior hairline | |
| HP:0000023 | Inguinal hernia | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0009773 | Symphalangism affecting the phalanges of the hand | |
| HP:0000574 | Thick eyebrow | |
| 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/1292
- This record as JSON: /data/d/1292.json