ORPHA:228410
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
Synonyms: PHD syndrome · Polyvalvular heart disease syndrome · TAB2-related syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized by the combination of cardiac anomalies (most commonly mitral valve defects and cardiomyopathy), short stature, facial dysmorphism and sometimes mild developmental delay.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome | PHD syndrome · Polyvalvular heart disease syndrome · TAB2-related syndrome |
| fr | Syndrome d'anomalies cardiaques-petite taille-hypermobilité articulaire-dysmorphie faciale | Syndrome PHD · Syndrome de la maladie cardiaque polyvalvulaire |
| de | Herzanomalien-Kleinwuchs-Gelenkhypermobilität-Gesichtsdysmorphien-Syndrom | Herzkrankheit, polyvalvuläre · PHD-Syndrom · Syndrom der polyvalvulären Herzfehlbildung · TAB2-Gen-assoziiertes Syndrom |
| es | Síndrome de anomalías cardíacas-talla baja-hipermovilidad articular-dismorfia facial | Síndrome PHD · Síndrome asociado a TAB2 · Síndrome de la enfermedad cardíaca polivalvular |
| it | Sindrome della cardiopatia polivalvolare | Sindrome PHD · Sindrome correlata a TAB2 · Sindrome della cardiopatia polivalvolare |
| nl | Hartanomalieën - kleine gestalte - gewrichtshypermobiliteit - faciale dysmorfie-syndroom | Polyvalvulaire hartziekte-syndroom · TAB2-gerelateerd syndroom · PHD-syndroom |
| pt | Síndrome de anomalias cardíacas-baixa estatura-hipermobilidade articular-dismorfia facial | Síndrome PHD · Síndrome TAB2-relacionada · Síndrome de doença cardíaca polivalvular |
| pl | Zespół wielozastawkowej choroby serca | Zespół PHD · Zespół wad serca, niskiego wzrostu, nadmiernej ruchomości stawów i dysmorfii twarzy |
| cs | Syndrom polyvalvulárního srdečního onemocnění | PHD syndrom |
| uk | Синдром серцевих аномалій-низькорослості-гіпермобільності суглобів-дисморфізму обличчя | PHD-синдром · Синдром поліклапанного пороку серця · TAB2-асоційований синдром |
| zh | 多瓣膜性心脏病综合征 | PHD综合征 |
| tr | Polivalvüler kalp hastalığı sendromu | PHD sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | attributed | validated |
| MONDO | 0016460 | E | validated | |
| UMLS | C4509918 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- 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:139030Rare developmental defect with connective tissue involvement
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases
4
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| TAB2 | ORPHA:664401Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17075 | ENSG00000055208 | 605101 | 6q25.1 | TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | 31959127[PMID] |
| TAB2 | ORPHA:6644046q25.1 microdeletion syndrome | Role in the phenotype of | Assessed | HGNC:17075 | ENSG00000055208 | 605101 | 6q25.1 | TGF-beta activated kinase 1 (MAP3K7) binding protein 2 | 20493459[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 19932204[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_19932204[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.
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HPO phenotypes
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000337 | Broad forehead | |
| HP:0000678 | Dental crowding | |
| HP:0000268 | Dolichocephaly | |
| HP:0000218 | High palate | |
| HP:0001249 | Intellectual disability | |
| HP:0000276 | Long face | |
| HP:0000369 | Low-set ears | |
| HP:0000347 | Micrognathia | |
| HP:0000448 | Prominent nose | |
| HP:0000508 | Ptosis | |
| HP:0000322 | Short philtrum | |
| Occasional (29-5%) | ||
| HP:0000951 | Abnormality of the skin | |
| HP:0001650 | Aortic valve stenosis | |
| HP:0011675 | Arrhythmia | |
| HP:0001382 | Joint hypermobility | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0001699 | Sudden death | |
| HP:0005180 | Tricuspid regurgitation | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 19932204[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/228410
- This record as JSON: /data/d/228410.json