ORPHA:90652
Otopalatodigital syndrome type 2
Synonyms: OPD II syndrome · OPD syndrome 2
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Otopalatodigital syndrome type 2 | OPD II syndrome · OPD syndrome 2 |
| fr | Syndrome oto-palato-digital type 2 | Syndrome OPD 2 · Syndrome OPD II |
| de | Oto-palato-digitales Syndrom Typ 2 | |
| es | Síndrome oto-palato-digital tipo 2 | |
| it | Sindrome oto-palato-digitale tipo 2 | |
| nl | Otopalatodigitaal syndroom type 2 | OPD II syndroom · OPD syndroom 2 |
| pt | Síndrome otopalatodigital tipo 2 | |
| pl | Zespół uszno-podniebienno-palcowy typu 2 | = en |
| cs | Otopalatodigitální syndrom, typ 2 | OPD II syndrom · OPD 2 syndrom |
| uk | Отопалатодігітальний синдром, тип 2 | Синдром OPD II · Синдром передчасного старіння 2 |
| zh | 口面指综合征2型 | OPD综合征II型 |
| tr | Otopalatodijital sendromu tip 2 | OPD sendromu 2 · OPD II sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 304120 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD25.1 | NTBT | index | validated |
| MONDO | 0010571 | E | validated | |
| MeSH | C538089 | E | validated | |
| UMLS | C1844696 | E | validated | |
| GARD | 5802 | 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.
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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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 17431908[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17431908[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
55 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000674 | Anodontia | |
| HP:0006487 | Bowing of the long bones | |
| HP:0000337 | Broad forehead | |
| HP:0000175 | Cleft palate | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0000239 | Large fontanelles | |
| HP:0000369 | Low-set ears | |
| HP:0000272 | Malar flattening | |
| HP:0000774 | Narrow chest | |
| HP:0000160 | Narrow mouth | |
| HP:0000677 | Oligodontia | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0010109 | Short hallux | |
| HP:0003196 | Short nose | |
| HP:0009778 | Short thumb | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0005640 | Abnormal vertebral segmentation and fusion | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0003042 | Elbow dislocation | |
| HP:0001508 | Failure to thrive | |
| HP:0002990 | Fibular aplasia | |
| HP:0002869 | Flared iliac wings | |
| HP:0001263 | Global developmental delay | |
| HP:0000162 | Glossoptosis | |
| HP:0000238 | Hydrocephalus | |
| HP:0000126 | Hydronephrosis | |
| HP:0002738 | Hypoplastic frontal sinuses | |
| HP:0000047 | Hypospadias | |
| HP:0011001 | Increased bone mineral density | |
| HP:0001249 | Intellectual disability | |
| HP:0000347 | Micrognathia | |
| HP:0001539 | Omphalocele | |
| HP:0000201 | Pierre-Robin sequence | |
| HP:0004279 | Short palm | |
| HP:0002684 | Thickened calvaria | |
| HP:0006000 | Ureteral obstruction | |
| Occasional (29-5%) | ||
| HP:0009702 | Carpal synostosis | |
| HP:0000518 | Cataract | |
| HP:0001087 | Developmental glaucoma | |
| HP:0002084 | Encephalocele | |
| HP:0002475 | Myelomeningocele | |
| HP:0100258 | Preaxial polydactyly | |
| HP:0002650 | Scoliosis | |
| HP:0005048 | Synostosis of carpal bones | |
| HP:0008368 | Tarsal synostosis | |
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/90652
- This record as JSON: /data/d/90652.json