Progeroid syndrome, Petty type
Synonyms: Petty syndrome · Petty-Laxova-Wiedemann syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Progeroid syndrome, Petty type | Petty syndrome · Petty-Laxova-Wiedemann syndrome |
| fr | Syndrome progéroïde type Petty | Syndrome de Petty · Syndrome de Petty-Laxova-Wiedemann |
| de | Progerie-Syndrom Typ Petty | Petty-Laxova-Wiedemann-Syndrom · Petty-Syndrom |
| es | Síndrome progeroide tipo Petty | Síndrome de Petty · Síndrome de Petty-Laxova-Wiedemann |
| it | Sindrome progeroide, tipo Petty | Sindrome di Petty · Sindrome di Petty-Laxova-Wiedemann |
| nl | Progeroïd syndroom, Petty-type | Syndroom van Petty · Syndroom van Petty-Laxova-Wiedemann |
| pt | Síndrome progeróide, tipo Petty | Síndrome Petty · Síndrome Petty-Laxova-Wiedemann |
| pl | Zespół progeroidalny, typ Petty | Zespół Petty · Zespół Petty, Laxova i Wiedemanna |
| cs | Progeroidní syndrom, typ Pettyové | Pettyové syndrom · Pettyové-Laxové-Wiedemannův syndrom · Petty-Laxova-Wiedemannův syndrom |
| uk | Прогероїдний синдром, тип Петті | Прогероїдний синдром Фонтена · Дрібязковий синдром · Синдром Петті-Лаксова-Відемана |
| zh | 早衰综合征，Petty型 | Petty-Laxova-Wiedemann 综合征 |
| tr | Progeroid sendromu, Küçük tip | Petty sendrom · Fontaine progeroid sendromu · Petty-Laxova-Wiedemann sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612289 | NTBT | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| MONDO | 0012853 | E | validated | |
| MeSH | C567360 | E | validated | |
| UMLS | C2676780 | E | validated | |
| GARD | 4497 | 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 (1):
- ORPHA:697101Fontaine progeroid syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare skin diseases; rare systemic and rheumatological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC25A24 | Disease-causing germline mutation(s) in | Assessed | HGNC:20662 | ENSG00000085491 | 608744 | 1p13.3 | solute carrier family 25 member 24 | 29100094[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 cases | Worldwide | Case(s) | Validated | 2309786[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2309786[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
28 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0001597 | Abnormal nail morphology | |
| HP:0001595 | Abnormality of the hair | |
| HP:0002299 | Brittle hair | |
| HP:0000337 | Broad forehead | |
| HP:0000973 | Cutis laxa | |
| HP:0004331 | Decreased skull ossification | |
| HP:0000286 | Epicanthus | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001508 | Failure to thrive | |
| HP:0002230 | Generalized hirsutism | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0100578 | Lipoatrophy | |
| HP:0007740 | Long eyelashes in irregular rows | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0007495 | Prematurely aged appearance | |
| HP:0003758 | Reduced subcutaneous adipose tissue | |
| HP:0001582 | Redundant skin | |
| HP:0009721 | Shagreen patch | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0004322 | Short stature | |
| HP:0008070 | Sparse hair | |
| HP:0000486 | Strabismus | |
| HP:0000574 | Thick eyebrow | |
| HP:0009804 | Tooth agenesis | |
| HP:0001537 | Umbilical hernia | |
| HP:0000260 | Wide anterior fontanel | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2963
- This record as JSON: /data/d/2963.json