ORPHA:1826
Frontometaphyseal dysplasia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant, X-linked dominant
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Frontometaphyseal dysplasia | |
| fr | Dysplasie fronto-métaphysaire | |
| de | Dysplasie, fronto-metaphysäre | |
| es | Displasia frontometafisaria | |
| it | Displasia frontometafisaria | |
| nl | Frontometafysaire dysplasie | |
| pt | Displasia fronto-metafísária | |
| pl | Dysplazja czołowo-przynasadowa | |
| cs | Frontometafyzární dysplázie | |
| uk | Фронтометафізарна дисплазія | |
| zh | 额骨干骺端结构不良 | |
| tr | Frontometafizyal displazi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 305620 | BTNT | validated | |
| OMIM | 617137 | BTNT | validated | |
| ICD-10 | Q78.5 | NTBT | attributed | validated |
| ICD-11 | LD25.1 | NTBT | index | validated |
| MONDO | 0015942 | E | validated | |
| MeSH | C538064 | E | validated | |
| UMLS | C0265293 | E | validated | |
| GARD | 826 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (5):
- ORPHA:98038Cranial malformation
rare developmental anomalies during embryogenesis - ORPHA:183542Genetic cranial malformation
rare genetic diseases - 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:364541Otopalatodigital syndrome spectrum disorder
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
4
Genes
2 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 | 16596676[PMID]_16835913[PMID]_20301567[PMID] |
| MAP3K7 | Disease-causing germline mutation(s) in | Assessed | HGNC:6859 | ENSG00000135341 | 602614 | 6q15 | mitogen-activated protein kinase kinase kinase 7 | 27426733[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| 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
62 annotations · validated 2020-05-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0011304 | Broad thumb | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0009473 | Joint contracture of the hand | |
| HP:0100807 | Long fingers | |
| HP:0000347 | Micrognathia | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0002650 | Scoliosis | |
| HP:0009803 | Short phalanx of finger | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000280 | Coarse facial features | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0003083 | Dislocated radial head | |
| HP:0002987 | Elbow flexion contracture | |
| HP:0000293 | Full cheeks | |
| HP:0002949 | Fused cervical vertebrae | |
| HP:0000126 | Hydronephrosis | |
| HP:0001220 | Interphalangeal joint contracture of finger | |
| HP:0010562 | Keloids | |
| HP:0010501 | Limitation of knee mobility | |
| HP:0010505 | Limitation of movement at ankles | |
| HP:0002996 | Limited elbow movement | |
| HP:0006248 | Limited wrist movement | |
| HP:0006070 | Metacarpophalangeal joint contracture | |
| HP:0003016 | Metaphyseal widening | |
| HP:0008081 | Pes valgus | |
| HP:0002694 | Sclerosis of skull base | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000941 | Short diaphyses | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0009650 | Short distal phalanx of the thumb | |
| HP:0010049 | Short metacarpal | |
| HP:0010743 | Short metatarsal | |
| HP:0001607 | Subglottic stenosis | |
| HP:0009487 | Ulnar deviation of the hand | |
| HP:0006000 | Ureteral obstruction | |
| HP:0008661 | Urethral stenosis | |
| HP:0001239 | Wrist flexion contracture | |
| Occasional (29-5%) | ||
| HP:0000481 | Abnormal cornea morphology | |
| HP:0000646 | Amblyopia | |
| HP:0000483 | Astigmatism | |
| HP:0000193 | Bifid uvula | |
| HP:0002308 | Chiari malformation | |
| HP:0000175 | Cleft palate | |
| HP:0001363 | Craniosynostosis | |
| HP:0001510 | Growth delay | |
| HP:0009004 | Hypoplasia of the musculature | |
| HP:0006006 | Hypotrophy of the small hand muscles | |
| HP:0001249 | Intellectual disability | |
| HP:0000410 | Mixed hearing impairment | |
| HP:0000677 | Oligodontia | |
| HP:0001761 | Pes cavus | |
| HP:0006383 | Progressive bowing of long bones | |
| HP:0008952 | Shoulder muscle hypoplasia | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0003298 | Spina bifida occulta | |
| HP:0000912 | Sprengel anomaly | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 20301567[PMID]_28498505[PMID]_29660408[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1826
- This record as JSON: /data/d/1826.json