ORPHA:137834
Frank-Ter Haar syndrome
Synonyms: Ter Haar syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare primary bone dysplasia characterized by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Frank-Ter Haar syndrome | Ter Haar syndrome |
| fr | Syndrome de Frank-Ter Haar | Syndrome de Ter Haar |
| de | Frank-ter Haar-Syndrom | |
| es | Síndrome de Frank-Ter Haar | Síndrome de Ter Haar |
| it | Sindrome di Frank-Ter Haar | Sindrome di Ter Haar |
| nl | Syndroom van Frank-Ter Haar | Syndroom van Ter Haar |
| pt | Síndrome Frank-Ter Haar | Síndrome Ter Haar |
| pl | Zespół Franka i Ter Haara | Zespół Ter Haara |
| cs | Frankův-ter Haarův syndrom | Ter Haarův syndrom · Frank-ter Haarův syndrom |
| uk | Синдром Франка-Тер Хаара | Синдром Тер Хаара |
| zh | Frank-Ter Haar综合征 | Ter Haar综合征 |
| tr | Frank-Ter Haar sendromu | Ter Haar sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 249420 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD25.1 | NTBT | index | validated |
| MONDO | 0009579 | E | validated | |
| MeSH | C537274 | E | validated | |
| UMLS | C1855305 | E | validated | |
| GARD | 5138 | 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 (1):
- ORPHA:364541Otopalatodigital syndrome spectrum disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1266Dermato-cardio-skeletal syndrome, Borrone type moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SH3PXD2B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:29242 | ENSG00000174705 | 613293 | 5q35.1 | SH3 and PX domains 2B | 20137777[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | 22037860[PMID]_23140272[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_22037860[PMID]_23140272[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
33 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001061 | Acne | |
| HP:0010885 | Avascular necrosis | |
| HP:0001156 | Brachydactyly | |
| HP:0000280 | Coarse facial features | |
| HP:0000490 | Deeply set eye | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000316 | Hypertelorism | |
| HP:0001634 | Mitral valve prolapse | |
| HP:0002797 | Osteolysis | |
| HP:0000322 | Short philtrum | |
| HP:0012471 | Thick vermilion border | |
| HP:0001072 | Thickened skin | |
| HP:0000154 | Wide mouth | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0004568 | Beaking of vertebral bodies | |
| HP:0000337 | Broad forehead | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002816 | Genu recurvatum | |
| HP:0000212 | Gingival overgrowth | |
| HP:0000348 | High forehead | |
| HP:0001387 | Joint stiffness | |
| HP:0002808 | Kyphosis | |
| HP:0000303 | Mandibular prognathia | |
| HP:0006480 | Premature loss of teeth | |
| HP:0000411 | Protruding ear | |
| HP:0002650 | Scoliosis | |
| Occasional (29-5%) | ||
| HP:0000771 | Gynecomastia | |
| HP:0000023 | Inguinal hernia | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/137834
- This record as JSON: /data/d/137834.json