Acrogeria
Synonyms: Acrogeria, Gottron type · Acrometageria · Gottron syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Childhood, Infancy
- Status
- active
A rare premature aging syndrome characterized by atrophy of the skin and subcutaneous tissue involving predominantly the distal parts of the extremities, resulting in prematurely aged appearance of the hand and feet. Another prominent feature is the characteristic facies with hollow cheeks, beaked nose, and owl-like eyes. Additional, non-dermatological manifestations, like bone anomalies have been described in some patients. Mode of inheritance has not been definitively established.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acrogeria | Acrogeria, Gottron type · Acrometageria · Gottron syndrome |
| fr | Acrogérie | Acrogeria · Acrogeria type Gottron · Acrogérie type Gottron · Acrometageria · Acrométagérie · Syndrome de Gottron |
| de | Akrogerie | Akrogerie Typ Gottron · Akrometagerie · Gottron-Syndrom |
| es | Acrogeria | Acrogeria tipo Gottron · Acrometageria · Síndrome de Gottron |
| it | Acrogeria | Acrogeria, tipo Gottron · Acrometageria · Sindrome di Gottron |
| nl | Acrogerie | Acrogeria · Acrogerie, Gottron-type · Acrometagerie · Syndroom van Gottron |
| pt | Acrogeria | Acrogeria, tipo Gottron · Acrometageria · Síndrome Gottron |
| pl | Akrogeria | Akrogeria, typu Gottrona · Akrometageria · Zespół Gottrona |
| cs | Akrogerie | Akrometagerie · Akrogerie, Gottronův typ · Gottronův syndrom |
| uk | Акрогерія | Акрогерія, вид Готтрон · Акрометагерія · Синдром Готтрона |
| zh | 肢端早老症 | 肢端早老症Gottron型 |
| tr | Akrogeri | Akrometageri · Gottron sendromu · Akrogeri, Gottron türü |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 201200 | E | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | index | validated |
| MONDO | 0008716 | E | validated | |
| MeSH | C538187 | E | validated | |
| UMLS | C0238590 | E | validated | |
| GARD | 6543 | 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 (2):
- ORPHA:79389Premature aging
rare genetic diseases; rare skin diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| COL3A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2201 | ENSG00000168542 | 120180 | 2q32.2 | collagen type III alpha 1 chain | 10819545[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 51 cases | Worldwide | Case(s) | Validated | 36353018[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 36353018[PMID]_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.
HPO phenotypes
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000951 | Abnormality of the skin | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0002213 | Fine hair | |
| HP:0007400 | Irregular hyperpigmentation | |
| HP:0001382 | Joint hypermobility | |
| HP:0100578 | Lipoatrophy | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0004322 | Short stature | |
| HP:0000963 | Thin skin | |
| Frequent (79-30%) | ||
| HP:0000444 | Convex nasal ridge | |
| HP:0007392 | Excessive wrinkled skin | |
| HP:0001249 | Intellectual disability | |
| HP:0000347 | Micrognathia | |
| HP:0002650 | Scoliosis | |
| HP:0001773 | Short foot | |
| HP:0200055 | Small hand | |
| HP:0100585 | Telangiectasia of the skin | |
| Occasional (29-5%) | ||
| HP:0002652 | Skeletal dysplasia | |
| HP:0200042 | Skin ulcer | |
Run the differential on the 9 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2500
- This record as JSON: /data/d/2500.json