TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay or regression, variable congenital heart defects (such as patent ductus arteriosus, atrial or ventricular septal defects, and double outlet right ventricle, among others), and dysmorphic features (including ptosis, epicanthal folds, abnormally set/dysplastic ears, low hairline or excess nuchal skin, wide-spaced/inverted nipples, umbilical hernia or diastasis recti, and digital anomalies). Additional variable manifestations are hyper- or hypotonia, seizures, hearing loss, cortical blindness, and optic atrophy. Brain imaging may show cerebral and cerebellar atrophy and hydrocephalus.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | |
| fr | Syndrome d'anomalies cardiaques-anomalies digitales-dysmorphie faciale-retard moteur et verbal associé à TRAF7 | |
| de | Herzfehler-digitale Anomalien-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom, TRAF7-assoziiert | CAFDADD · Herz-, Gesichts- und Fingeranomalien mit Entwicklungsverzögerung |
| es | Síndrome de retraso motor y de la adquisición del habla-dismorfia facial-anomalías digitales-defecto cardíaco asociado al gen TRAF7 | |
| it | Sindrome cardiopatia-anomalie delle dita-dismorfismi facciali-ritardo motorio e del linguaggio correlata a TRAF7 | |
| nl | TRAF7-geassocieerd hartdefect - digitale anomalieën - faciale dysmorfie - motorische achterstand en spraakachterstand-syndroom | |
| pt | Síndrome de anomalia cardíaca-anomalias digitais-dismorfia facial-perturbação do desenvolvimento motor e da linguagem TRAF7-relacionada | |
| pl | Zespół zaburzeń związanych z TRAF7 | |
| cs | Syndrom související s TRAF7, zahrnující srdeční vadu, anomálie prstů, faciální dysmorfii a opoždění motoriky a řeči | |
| uk | TRAF7-асоційований синдром вади серця-аномалії пальців-лицевого дизморфізму- затримки моторного та мовленнєвого розвитку | |
| zh | TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome | |
| tr | TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618164 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0035661 | E | validated | |
| UMLS | C5681633 | 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 (7):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases - ORPHA:404577Genetic syndrome with limb malformations as a major feature
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:109009Syndrome with limb malformations as a major feature
rare developmental anomalies during embryogenesis
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TRAF7 | Disease-causing germline mutation(s) in | Assessed | HGNC:20456 | ENSG00000131653 | 606692 | 16p13.3 | TNF receptor associated factor 7 | 29961569[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 55 cases | Worldwide | Case(s) | Validated | 29961569[PMID]_32376980[PMID]_32459067[PMID]_34088006[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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/592570
- This record as JSON: /data/d/592570.json