Heart defects-limb shortening syndrome
historical
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by skeletal dysplasia (including coronal clefting of the vertebral bodies and short limbs and variable congenital heart malformations, such as atrial and ventricular septal defects, right ventricular hypoplasia, and valve defects). There have been no further descriptions in the literature since 1990.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Heart defects-limb shortening syndrome | |
| fr | Syndrome de cardiopathie congénitale-membres courts | |
| de | Herzfehler-Extremitätenverkürzung-Syndrom | Syndrom der Herzfehlbildung mit Gliedmaßenverkürzung |
| es | Síndrome de cardiopatía congénita-extremidades cortas | |
| it | Sindrome da cardiopatie e arti corti | |
| nl | Hartdefecten - verkorte ledematen-syndroom | |
| pt | Síndrome de cardiopatia-encurtamento de membros | |
| pl | Wady serca - skrócenie kończyn | |
| cs | Syndrom zahrnující srdeční vady a zkrácené končetiny | |
| uk | Синдром вади серця - укорочення кінцівок | |
| zh | 心脏缺损-肢体短缩综合征 | |
| tr | Kalp defekti-ekstremite kısalma sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212135 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0008917 | E | validated | |
| MeSH | C535850 | E | validated | |
| UMLS | C1859327 | E | validated | |
| GARD | 2613 | 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 (5):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone 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 | 2074559[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2074559[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
14 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0001631 | Atrial septal defect | |
| HP:0003498 | Disproportionate short stature | |
| HP:0005026 | Mesomelic/rhizomelic limb shortening | |
| HP:0000774 | Narrow chest | |
| HP:0001629 | Ventricular septal defect | |
| Frequent (79-30%) | ||
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0001702 | Abnormal tricuspid valve morphology | |
| HP:0004414 | Abnormality of the pulmonary artery | |
| HP:0001522 | Death in infancy | |
| HP:0002808 | Kyphosis | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1354
- This record as JSON: /data/d/1354.json