Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Synonyms: Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare primary bone dysplasia characterized by micromelia with rhizomelic shortening, metaphyseal widening of the long bones, brachydactyly, small scapulae, micrognathia and thoracic insufficiency requiring tracheostomy and ventilation, and severe myopia and sensorineural hearing loss. Further dysmorphic craniofacial features include frontal bossing, proptosis, epicanthal folds, short nose, flat nasal bridge, anteverted nares, midfacial retrusion, and cleft palate.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome | Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome |
| fr | Syndrome autosomique dominant de myopie-retrusion du visage-surdité neurosensorielle-dysplasie rhizomélique | |
| de | Autosomal-dominante Myopie-Mittelgesichtsrücklage-sensorineuraler Hörverlust-rhizomele Dysplasie-Syndrom | |
| es | Síndrome de miopía autosómica dominante-retrusión del tercio medio facial-hipoacusia neurosensorial-displasia rizomélica | Síndrome de miopía autosómica dominante-retrusión del tercio medio facial-sordera neurosensorial-displasia rizomélica |
| it | Sindrome autosomica dominante miopia-retrusione mediofacciale-sordità neurosensoriale-displasia rizomelica | |
| nl | Autosomaal dominante myopie - retrusie van middengezicht - sensorineuraal gehoorverlies - rhizomele dysplasie-syndroom | |
| pt | Síndrome de miopia-recuo do terço médio da face-perda auditiva neurossensorial-displasia rizomélica autossómica dominante | |
| pl | Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndromeAutosomalny dominujący zespół miopii, retruzji środkowej części twarzy, czuciowo-nerwowej utraty słuchu i dysplazji rizomelicznej | = en |
| cs | Autozomálně dominantní syndrom zahrnující myopatii, retrakci střední části obličeje, senzorineurální ztrátu sluchu a rhizomelickou dysplázii | = en |
| uk | Аутосомно-домінантний синдром міопії-середньолицьової ретрузії-сенсоневральної приглухуватостї-ризомелічної дисплазії | Аутосомно-домінантний синдром короткозорості-середньолицьової ретрузії-сенсоневральної глухоти-ризомелічної дисплазії |
| zh | 常染色体显性遗传性近视-中面部退缩-感音神经性听力减退-肢根发育不良综合征 | 常染色体显性遗传性近视-中面部退缩-感音神经性耳聋-肢根发育不良综合征 |
| tr | Otozomal dominant miyopi-orta yüz retrüzyonu-sensörinöral işitme kaybı-rizomelik displazi sendromu | Otozomal baskın miyopi-orta yüz retrüzyonu-sensorinöral sağırlık-rizomelik displazi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| ICD-11 | LD24.A | NTBT | attributed | validated |
| MONDO | 0018601 | E | validated | |
| UMLS | C5680056 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:93438Mesomelic and rhizo-mesomelic dysplasia
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:93422Type 11 collagen-related bone disorder
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL11A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2186 | ENSG00000060718 | 120280 | 1p21.1 | collagen type XI alpha 1 chain | 25091507[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25091507[PMID] |
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 25091507[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.
HPO phenotypes
19 annotations · validated 2016-11-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000175 | Cleft palate | |
| HP:0000347 | Micrognathia | |
| HP:0002983 | Micromelia | |
| HP:0000774 | Narrow chest | |
| HP:0008905 | Rhizomelia | |
| HP:0002781 | Upper airway obstruction | |
| Frequent (79-30%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0000947 | Dumbbell-shaped long bone | |
| HP:0002980 | Femoral bowing | |
| HP:0002007 | Frontal bossing | |
| HP:0000162 | Glossoptosis | |
| HP:0011003 | High myopia | |
| HP:0000882 | Hypoplastic scapulae | |
| HP:0003016 | Metaphyseal widening | |
| HP:0011800 | Midface retrusion | |
| HP:0001622 | Premature birth | |
| HP:0000520 | Proptosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0003097 | Short femur | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 25091507[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/440354
- This record as JSON: /data/d/440354.json