ORPHA:950
Acrodysostosis
Synonyms: Acrodysostosis with or without multiple hormonal resistance · Acrodysplasia · Arkless-Graham syndrome · Maroteaux-Malamut syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
An acromelic dysplasia that is characterized by severe brachydactyly, peripheral dysostosis with facial dysostosis, nasal hypoplasia, and developmental delay.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrodysostosis | Acrodysostosis with or without multiple hormonal resistance · Acrodysplasia · Arkless-Graham syndrome · Maroteaux-Malamut syndrome |
| fr | Acrodysostose | Acrodysplasie · Syndrome d'Arkless-Graham · Syndrome de Maroteaux-Malamut |
| de | Akrodysostose | Akrodysostose mit oder ohne multiple Hormonresistenz · Akrodysplasie · Arkless-Graham-Syndrom · Maroteaux-Malamut-Syndrom |
| es | Acrodisostosis | Síndrome de Arkless-Graham · Síndrome de Maroteaux-Malamut · Acrodisostosis con o sin resistencia hormonal múltiple · Acrodisplasia |
| it | Acrodisostosi | Acrodisostosi con o senza resistenza multipla agli ormoni · Acrodisplasia · Sindrome di Arkless-Graham · Sindrome di Maroteaux-Malamut |
| nl | Acrodysostose | Acrodysostose met of zonder meervoudige hormoonresistentie · Acrodysplasie · Syndroom van Arkless-Graham · Syndroom van Maroteaux-Malamut |
| pt | Acrodisostose | Acrodisostose com ou sem resistência hormonal múltipla · Acrodisplasia · Síndrome Arkless-Graham · Síndrome Maroteaux-Malamut |
| pl | Dyzostoza kończynowa | Akrodyzostoza · Zespół Arklessa i Grahama · Zespół Maroteaux i Malamuta |
| cs | Akrodysostóza | Akrodysplázie · Arklessův-Grahamův syndrom · Maroteauxův-Malamutův syndrom · Arkless-Grahamův syndrom · Maroteaux-Malamutův syndrom |
| uk | Акродизостоз | Акродизостоз з множинною гормональною резистентністю або без неї · Акродисплазія · Синдром Арклесса-Грема · Синдром Марото-Маламута |
| zh | 肢端骨发育不全 | Maroteaux-Malamut综合征 |
| tr | Akrodisostoz | Akrodisplazi · Arkless-Graham sendromu · Maroteaux-Malamut sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 101800 | BTNT | not yet validated | |
| OMIM | 614613 | BTNT | not yet validated | |
| ICD-10 | Q75.4 | NTBT | attributed | validated |
| ICD-11 | LD2F.16 | NTBT | index | validated |
| MONDO | 0019797 | E | validated | |
| MeSH | C538179 | E | validated | |
| UMLS | C0220659 | E | validated | |
| GARD | 5724 | E | validated | |
| MedDRA | 10079856 | 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 (4):
- ORPHA:93436Acromelic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:155899Mandibulofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1240Metaphyseal acroscyphodysplasia moved to · inactive
- ORPHA:1795OBSOLETE: Peripheral dysostosis referred to · inactive
- ORPHA:280651OBSOLETE: Acrodysostosis with multiple hormone resistance referred to · inactive
4
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PRKAR1A | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:9388 | ENSG00000108946 | 188830 | 17q24.2 | protein kinase cAMP-dependent type I regulatory subunit alpha | 21651393[PMID]_22464250[PMID]_22464252[PMID] |
| PDE4D | Disease-causing germline mutation(s) in | Assessed | HGNC:8783 | ENSG00000113448 | 600129 | 5q11.2-q12.1 | phosphodiesterase 4D | 22464250[PMID]_22464252[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
| Cases/families | 80 cases | Worldwide | Case(s) | Validated | [EXPERT] |
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
53 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0001156 | Brachydactyly | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000457 | Depressed nasal ridge | |
| HP:0010655 | Epiphyseal stippling | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0001249 | Intellectual disability | |
| HP:0011800 | Midface retrusion | |
| HP:0000194 | Open mouth | |
| HP:0010049 | Short metacarpal | |
| HP:0010743 | Short metatarsal | |
| HP:0003196 | Short nose | |
| HP:0004322 | Short stature | |
| HP:0001831 | Short toe | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0000940 | Abnormal diaphysis morphology | |
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0002818 | Abnormal morphology of the radius | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0000055 | Abnormality of female external genitalia | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0010978 | Abnormality of immune system physiology | |
| HP:0000463 | Anteverted nares | |
| HP:0006487 | Bowing of the long bones | |
| HP:0000248 | Brachycephaly | |
| HP:0006059 | Cone-shaped metacarpal epiphyses | |
| HP:0002673 | Coxa valga | |
| HP:0000028 | Cryptorchidism | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002007 | Frontal bossing | |
| HP:0002970 | Genu varum | |
| HP:0000365 | Hearing impairment | |
| HP:0000316 | Hypertelorism | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0001373 | Joint dislocation | |
| HP:0000303 | Mandibular prognathia | |
| HP:0002983 | Micromelia | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0011220 | Prominent forehead | |
| HP:0003416 | Spinal canal stenosis | |
| HP:0000506 | Telecanthus | |
| Occasional (29-5%) | ||
| HP:0000286 | Epicanthus | |
| HP:0012368 | Flat face | |
| HP:0000135 | Hypogonadism | |
| HP:0000858 | Irregular menstruation | |
| HP:0000995 | Melanocytic nevus | |
| HP:0010807 | Open bite | |
| HP:0002650 | Scoliosis | |
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/950
- This record as JSON: /data/d/950.json