Dysmorphism-conductive hearing loss-heart defect syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Dysmorphism-conductive hearing loss-heart defect syndrome is a rare, multiple congenital anomalies syndrome characterized by a distinctive facial appearance (low frontal hairline, bilateral ptosis, prominent eyes, flat midface, broad, flat nares, Cupid's bow upper lip vermilion, and small, low-set, posteriorly rotated ears), in addition to cleft palate, conductive hearing loss, heart defects (atrial or ventricular septal defect) and mild developmental delay/intellectual disability.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Dysmorphism-conductive hearing loss-heart defect syndrome | |
| fr | Syndrome de dysmorphie-surdité de transmission-malformation cardiaque | |
| de | Dysmorphien-Schallleitungsschwerhörigkeit-Herzfehler-Syndrom | |
| es | Síndrome de dismorfia-hipoacusia conductiva-defecto cardíaco | |
| it | Dismorfismi - sordità di conduzione - cardiopatia | |
| nl | Dysmorfie - conductief gehoorverlies - hartdefect-syndroom | |
| pt | Síndrome de dismorfia-perda auditiva de transmissão-anomalia cardíaca | |
| pl | Dysmorfizm - przewodzeniowa utrata słuchu - wada serca | |
| cs | Syndrom zahrnující dysmorfismus, převodní ztrátu sluchu a srdeční vady | |
| uk | Синдром дисморфізму-кондуктивної приглухуватості-серцевих вад | |
| zh | 畸形-传导性听力损失-心脏缺陷综合征 | |
| tr | Dismorfizm-iletim tipi işitme kaybı-kalp defekti sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615102 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014044 | E | validated | |
| UMLS | C3554774 | 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:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/289553
- This record as JSON: /data/d/289553.json