ORPHA:246
Postaxial acrofacial dysostosis
Synonyms: Acrofacial dysostosis, Genee-Wiedemann type · Mandibulofacial dysostosis with postaxial limb anomalies · Miller syndrome · POADS · Postaxial acrodysostosis
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare acrofacial dysostosis that is characterized by mandibular and malar hypoplasia, small and cup-shaped ears, lower lid ectropion, and symmetrical postaxial limb deficiencies with absence of the fifth digital rays and ulnar hypoplasia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Postaxial acrofacial dysostosis | Acrofacial dysostosis, Genee-Wiedemann type · Mandibulofacial dysostosis with postaxial limb anomalies · Miller syndrome · POADS · Postaxial acrodysostosis |
| fr | Dysostose acrofaciale post-axiale | Acrodysostose postaxiale · Dysostose acrofaciale type Genee-Wiedemann · Dysostose mandibulo-faciale avec anomalies post-axiales des extrémités · POADS · Syndrome de Miller |
| de | Dysostose, akrofaziale postaxiale | Akrodysostose, postaxiale · Dysostose, akrofaziale, Typ Genee-Wiedemann · Mandibulofaziale Dysostose mit postaxialen Gliedmaßenanomalien · Miller-Syndrom · POADS |
| es | Disostosis acrofacial postaxial | Acrodisostosis postaxial · Disostosis acrofacial tipo Genee-Wiedemann · Disostosis mandibulofacial con anomalías de las extremidades postaxiales · Síndrome de Miller |
| it | Disostosi acrofacciale postassiale | Acrodisostosi postassiale · Disostosi acrofacciale, tipo Genee-Wiedmann · Disostosi manibolofacciale con anomalie postassiali degli arti · POADS · Sindrome di Miller |
| nl | Postaxiale acrofaciale dysostose | Acrofaciale dysostose, Genee-Wiedemann-type · Mandibulofaciale dysostose met postaxiale ledemaatanomalieën · POADS · Postaxiale acrodysostose · Syndroom van Miller |
| pt | Disostose acrofacial pós-axial | Acrodisostose pós-axial · Síndrome Miller |
| pl | Pozaosiowa dyzostoza kończynowo-twarzowa | Dyzostoza kończynowo-twarzowa typu Genee i Wiedmanna · Dyzostoza żuchwowo-twarzowa z pozaosiowymi wadami kończyn · Pozaosiowa dyzostoza kończynowa · Zespół Millera |
| cs | Postaxiální akrofaciální dysostóza | POADS · Postaxiální akrodysostóza · Akrofaciální dysostóza, Geneeův-Wiedmannův typ · Mandibulofaciální dysostóza s postaxiálními anomáliemi končetin · Millerův syndrom · Akrofaciální dysostóza, Genee-Wiedmannův typ |
| uk | Постаксіальний акрофаціальний дизостоз | Акрофаціальний дизостоз, тип Гені-Відеманна · Мандибулофаціальний дизостоз з постаксіальними аномаліями кінцівок · Синдром Міллера · POADS · Постаксіальний акродизостоз |
| zh | 轴后面骨发育不全 | 颌面部发育不全伴轴后肢体异常 |
| tr | Postaksiyel akrofasiyal disostoz | POADS · Miller sendromu · Postaksiyal akrodizostoz · Akrofasiyal dizostoz, Genee-Wiedmann tipi · Postaksiyal ekstremite anomalisi ile seyreden mandibulfasiyal dizostoz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 263750 | E | validated | |
| ICD-10 | Q75.4 | NTBT | attributed | validated |
| ICD-11 | LD25.2 | NTBT | index | validated |
| MONDO | 0009903 | E | validated | |
| MeSH | C537680 | E | validated | |
| UMLS | C0265257 | E | validated | |
| GARD | 8410 | 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:364574Acrofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:139036Branchial arch or oral-acral syndrome
rare developmental anomalies during embryogenesis - ORPHA:183576Genetic branchial arch or oral-acral syndrome
rare genetic diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:728642Genetic syndrome or malformation associated with head and neck malformations
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:98571Secondary ectropion
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:156237Syndrome or malformation associated with head and neck malformations
rare developmental anomalies during embryogenesis; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:98566Syndromic eyelid coloboma
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DHODH | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:2867 | ENSG00000102967 | 126064 | 16q22.2 | dihydroorotate dehydrogenase (quinone) | 19915526[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 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
20 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0000378 | Cupped ear | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0007651 | Ectropion of lower eyelids | |
| HP:0000625 | Eyelid coloboma | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0002558 | Supernumerary nipple | |
| Frequent (79-30%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000370 | Abnormality of the middle ear | |
| HP:0100490 | Camptodactyly of finger | |
| HP:0000175 | Cleft palate | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0006101 | Finger syndactyly | |
| HP:0100335 | Non-midline cleft of the upper lip | |
| Occasional (29-5%) | ||
| HP:0000486 | Strabismus | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/246
- This record as JSON: /data/d/246.json