Short stature-wormian bones-dextrocardia syndrome
Synonyms: Stratton-Parker syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A multiple congenital anomalies syndrome characterized by wormian bones, dextrocardia and short stature due to a growth hormone deficiency. Additional manifestations that have been reported include brachycamptodactyly, kidney hypoplasia, bilateral cryptorchidism, midshaft hypospadias, imperforate anus/anorectal agenesis, body asymmetry, mild developmental delay, hemimegalencephaly and facial dysmorphism (hypotelorism, downslanting palpebral fissures, low-set and posteriorly angulated ears, depressed nasal bridge, and microstomia).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Short stature-wormian bones-dextrocardia syndrome | Stratton-Parker syndrome |
| fr | Syndrome de petite taille-os wormiens-dextrocardie | Syndrome de Stratton-Parker |
| de | Kleinwuchs-Wormsche Knochen-Dextrokardie-Syndrom | Stratton-Parker-Syndrom |
| es | Síndrome de talla baja-huesos wormianos-dextrocardia | Síndrome de Stratton-Parker |
| it | Bassa statura - ossa wormiane - destrocardia | Sindrome di Stratton-Parker |
| nl | Kleine gestalte - Wormiaanse botstructuren - dextrocardie-syndroom | Syndroom van Stratton-Parker |
| pt | Síndrome de baixa estatura-ossos vormianos-dextrocardia | Síndrome Stratton-Parker |
| pl | Niski wzrost - kostki Worma - dekstrokardia | Zespół Strattona i Parkera |
| cs | Syndrom zahrnující malý vzrůst, wormianské kůstky a dextrokardii | Strattonův-Parkerův syndrom · Stratton-Parkerův syndrom |
| uk | Синдром низькорослості- червоподібних кісток - декстрокардії | Синдром Страттона-Паркера |
| zh | 身材矮小-缝间骨-右位心综合征 | Stratton-Parker综合征 |
| tr | Kısa boy-wormian kemikler-dekstrokardi sendromu | Stratton-Parker sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 185120 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0008499 | E | validated | |
| MeSH | C566105 | E | validated | |
| UMLS | C1861448 | E | validated | |
| GARD | 4856 | 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 (2):
- 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
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 | 3 cases | Worldwide | Case(s) | Validated | 15211658[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15211658[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
25 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000288 | Abnormality of the philtrum | |
| HP:0002023 | Anal atresia | |
| HP:0000830 | Anterior hypopituitarism | |
| HP:0001156 | Brachydactyly | |
| HP:0000187 | Broad alveolar ridges | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0100543 | Cognitive impairment | |
| HP:0000028 | Cryptorchidism | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000437 | Depressed nasal tip | |
| HP:0001651 | Dextrocardia | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000218 | High palate | |
| HP:0000527 | Long eyelashes | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0012854 | Midshaft hypospadias | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
| HP:0009804 | Tooth agenesis | |
| HP:0000431 | Wide nasal bridge | |
| HP:0002645 | Wormian bones | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2863
- This record as JSON: /data/d/2863.json