Acroosteolysis-keloid-like lesions-premature aging syndrome
Synonyms: Premature aging syndrome, Penttinen type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Acroosteolysis-keloid-like lesions-premature aging syndrome | Premature aging syndrome, Penttinen type |
| fr | Syndrome de vieillissement prématuré-acro-ostéolyse-lésions chéloïdes | Syndrome de vieillissement prématuré type Penttinen |
| de | Akro-osteolyse-keloid-ähnliche Läasionen-vorzeitige Alterung-Syndrom | Vorzeitiges Alterungssyndrom Typ Penttinen |
| es | Síndrome de acro-osteólisis-envejecimiento prematuro-lesiones tipo queloide | Síndrome de envejecimiento prematuro tipo Penttinen |
| it | Sindrome acro-osteolisi-lesioni simil-cheloidi-invecchiamento precoce | Sindrome da invecchiamento precoce, tipo Penttinen |
| nl | Acro-osteolyse - keloïdachtige laesies - vroegtijdige veroudering-syndroom | Vroegtijdige veroudering-syndroom, Penttinen-type |
| pt | Síndrome de acro - osteólise - lesões semelhantes a queloide - envelhecimento precoce | |
| pl | Zespół osteolizy końcowych paliczków, zmian przypominających keloid i przedwczesnego starzenia | Zespół przedwczesnego starzenia, typ Penttinena |
| cs | Syndrom zahrnující akroosteolýzu, keloidní léze a předčasné stárnutí | Syndrom předčasného stárnutí, typ Penttinenové |
| uk | Синдром акроостеолізу-келоїдоподібних уражень-передчасного старіння | Синдром передчасного старіння, тип Пенттінена |
| zh | 肢端溶骨-瘢痕疙瘩样病变-早衰综合征 | 早老综合征Penttinen型 |
| tr | Akroosteoliz-keloid benzeri lezyonlar-erken yaşlanma sendromu | Erken yaşlanma sendromu, Penttinen tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601812 | E | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| ICD-11 | LD2B | NTBT | attributed | validated |
| MONDO | 0011150 | E | validated | |
| UMLS | C1866182 | E | validated | |
| GARD | 4276 | 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:363245Genetic progeroid syndrome
rare genetic diseases - ORPHA:79389Premature aging
rare genetic diseases; rare skin diseases - ORPHA:139033Progeroid syndrome
rare developmental anomalies during embryogenesis
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PDGFRB | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:8804 | ENSG00000113721 | 173410 | 5q32 | platelet derived growth factor receptor beta | 26279204[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 26279204[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26279204[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363665
- This record as JSON: /data/d/363665.json