ORPHA:90650
Otopalatodigital syndrome type 1
Synonyms: OPD I syndrome · OPD syndrome 1 · Taybi syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A disorder that is the mildest form of otopalatodigital syndrome spectrum disorder, and is characterized by a generalized skeletal dysplasia, mild intellectual disability, conductive hearing loss, and typical facial anomalies.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Otopalatodigital syndrome type 1 | OPD I syndrome · OPD syndrome 1 · Taybi syndrome |
| fr | Syndrome oto-palato-digital type 1 | Syndrome OPD 1 · Syndrome OPD I · Syndrome de Taybi |
| de | Oto-palato-digitales Syndrom Typ 1 | |
| es | Síndrome oto-palato-digital tipo 1 | |
| it | Sindrome oto-palato-digitale tipo 1 | |
| nl | Otopalatodigitaal syndroom type 1 | OPD I syndroom · OPD syndroom 1 · Syndroom van Taybi |
| pt | Síndrome otopalatodigital tipo 1 | |
| pl | Zespół uszno-podniebienno-palcowy typu 1 | = en |
| cs | Otopalatodigitální syndrom, typ 1 | OPD I syndrom · OPD 1 syndrom · Taybiho syndrom |
| uk | Отопалатодігітальний синдром, тип 1 | Синдром OPD I · Синдром OPD 1 · Синдром Тайбі |
| zh | 口面指综合征1型 | Taybi综合征 |
| tr | Otopalatodijital sendromu tip 1 | OPD I sendromu · OPD sendromu 1 · Taybi sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 311300 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD25.1 | NTBT | index | validated |
| MONDO | 0010704 | E | validated | |
| MeSH | C536065 | E | validated | |
| UMLS | C0265251 | E | validated | |
| GARD | 5121 | 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 (9):
- ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:139042Malformation syndrome with odontal and/or periodontal component
rare developmental anomalies during embryogenesis; rare odontological diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:364541Otopalatodigital syndrome spectrum disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:90642Rare syndromic genetic deafness
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FLNA | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:3754 | ENSG00000196924 | 300017 | Xq28 | filamin A | 20301567[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 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
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000674 | Anodontia | |
| HP:0000175 | Cleft palate | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000677 | Oligodontia | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0001852 | Sandal gap | |
| HP:0010109 | Short hallux | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0006487 | Bowing of the long bones | |
| HP:0003042 | Elbow dislocation | |
| HP:0002738 | Hypoplastic frontal sinuses | |
| HP:0011001 | Increased bone mineral density | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004279 | Short palm | |
| HP:0009778 | Short thumb | |
| HP:0002684 | Thickened calvaria | |
| Occasional (29-5%) | ||
| HP:0005640 | Abnormal vertebral segmentation and fusion | |
| HP:0001850 | Abnormality of the tarsal bones | |
| HP:0005048 | Synostosis of carpal bones | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301567[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/90650
- This record as JSON: /data/d/90650.json