ORPHA:363417
Temtamy preaxial brachydactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, syndromic dysostosis characterized by bilateral, symmetrical, preaxial brachydactyly associated with hyperphalangy, motor developmental delay and intellectual disability, growth retardation, sensorineural hearing loss, dental abnormalities (incuding misalignment of teeth, talon cusps, microdontia), and facial dysmorphism that includes plagiocephaly, round face, hypertelorism, malar hypoplasia, malformed ears, microstomia and micro/retrognathia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Temtamy preaxial brachydactyly syndrome | |
| fr | Syndrome de brachydactylie préaxiale de Temtamy | |
| de | Temtamy präaxiales Brachydaktylie-Syndrom | |
| es | Síndrome de braquidactilia preaxial de Temtamy | |
| it | Sindrome da brachidattilia preassiale di Temtamy | |
| nl | Preaxiale brachydactylie van Temtamy-syndroom | |
| pt | Síndrome de braquidactilia preaxial de Temtamy | |
| pl | Zespół brachydaktylii przedosiowej Temtamy | |
| cs | Temtamyové syndrom preaxiální brachydaktylie | |
| uk | Синдром преаксіальної брахідактилії Темтамі | |
| zh | Temtamy型轴前短指综合征 | |
| tr | Temtamy preaksiyal brakidaktili sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 605282 | E | validated | |
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| ICD-11 | LB75.Y | NTBT | attributed | validated |
| MONDO | 0011533 | E | validated | |
| MeSH | C536958 | E | validated | |
| UMLS | C1854466 | E | validated | |
| GARD | 9679 | 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 (7):
- ORPHA:371212Congenital disorder of glycosylation with deafness as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:371195Congenital disorder of glycosylation-related bone disorder
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:309450Disorder of O-xylosylglycan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:498454Dysostosis with brachydactyly with extraskeletal manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CHSY1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:17198 | ENSG00000131873 | 608183 | 15q26.3 | chondroitin sulfate synthase 1 | 21129728[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 18 cases | Worldwide | Case(s) | Validated | 21129727[PMID]_2129728[PMID]_19952732[PMID]_15365460[PMID]_9823490[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.
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HPO phenotypes
48 annotations · validated 2019-09-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0011297 | Abnormal digit morphology | |
| HP:0009942 | Duplication of thumb phalanx | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0001090 | Abnormally large globe | |
| HP:0001156 | Brachydactyly | |
| HP:0009608 | Complete duplication of proximal phalanx of the thumb | |
| HP:0009966 | Complete duplication of the middle phalanx of the 3rd finger | |
| HP:0001263 | Global developmental delay | |
| HP:0001510 | Growth delay | |
| HP:0000668 | Hypodontia | |
| HP:0001249 | Intellectual disability | |
| HP:0009970 | Partial duplication of the proximal phalanx of the 3rd finger | |
| HP:0009944 | Partial duplication of thumb phalanx | |
| HP:0006152 | Proximal symphalangism of hands | |
| HP:0008625 | Severe sensorineural hearing impairment | |
| HP:0100266 | Synostosis of carpals/tarsals | |
| HP:0011087 | Talon cusp | |
| HP:0001566 | Widely-spaced maxillary central incisors | |
| Occasional (29-5%) | ||
| HP:0040159 | Abnormal spaced incisors | |
| HP:0011078 | Abnormality of canine | |
| HP:0000517 | Abnormality of the lens | |
| HP:0012795 | Abnormality of the optic disc | |
| HP:0000592 | Blue sclerae | |
| HP:0040022 | Clinodactyly of the 2nd finger | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0010554 | Cutaneous finger syndactyly | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0000369 | Low-set ears | |
| HP:0000691 | Microdontia | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0000677 | Oligodontia | |
| HP:0000648 | Optic atrophy | |
| HP:0002465 | Poor speech | |
| HP:0005037 | Proximal radio-ulnar synostosis | |
| HP:0009466 | Radial deviation of finger | |
| HP:0000311 | Round face | |
| HP:0001773 | Short foot | |
| HP:0010109 | Short hallux | |
| HP:0003196 | Short nose | |
| HP:0004279 | Short palm | |
| HP:0004322 | Short stature | |
| HP:0001328 | Specific learning disability | |
| HP:0008368 | Tarsal synostosis | |
| HP:0100345 | Tibial deviation of the 2nd toe | |
| HP:0100347 | Tibial deviation of the 5th toe | |
| HP:0000692 | Tooth malposition | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 24269551[PMID]_21129727[PMID]_19952732[PMID]_9823490[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363417
- This record as JSON: /data/d/363417.json