TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, neurodevelopmental disorder characterized by global developmental delay, congenital heart defects, generalized hypertrichosis and dysmorphic facial features, most commonly triangular face, thick arched eyebrows, widely spaced eyes, posteriorly rotated low set ears, depressed nasal bridge, broad nasal root and tip, and pointed chin.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome | |
| fr | Syndrome d'anomalie cardiaque congénitale-dysmorphie faciale-retard du développement associé à TMEM94 | |
| de | TMEM94-assoziierter kongenitaler Herzdefekt-Gesichtsdysmorphie-Entwicklungsverzögerung-Syndrom | |
| es | Síndrome de defectos cardiacos congénitos-dismorfia facial-retraso del desarrollo asociado a TMEM94 | |
| it | Sindrome cardiopatia congenita-dismorfismi facciali-ritardo dello sviluppo correlata a TMEM94 | |
| nl | TMEM94-geassocieerd congenitaal hartdefect - faciale dysmorfie - ontwikkelingsachterstand-syndroom | |
| pt | Síndrome de anomalia cardíaca congénita-dismorfia facial-perturbação do desenvolvimento TMEM94-associada | |
| pl | Zespół wrodzonej wady serca, dysmorfii twarzy i opóźnienia rozwoju związany z TMEM94 | |
| cs | Syndrom zahrnující vrozenou srdeční vadu, obličejový dysmorfismus a opožděný vývoj spojený s TMEM94 | |
| uk | TMEM94-асоційований синдром вродженої вади серця-дизморфізму обличчя-затримки розвитку | |
| zh | TMEM94基因相关的先天性心脏缺陷-面部畸形-发育迟缓综合征 | |
| tr | TMEM94-ilişkili doğumsal kalp defekti-fasiyal dismorfizm-gelişme geriliği sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618316 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | not yet validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0032672 | E | validated | |
| UMLS | C5193024 | 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:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TMEM94 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:28983 | ENSG00000177728 | 618163 | 17q25.1 | transmembrane protein 94 | 30526828[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 30526868[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_30526868[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/562569
- This record as JSON: /data/d/562569.json