Pseudoleprechaunism syndrome, Patterson type
historical
Synonyms: Patterson pseudoleprechaunism syndrome · Patterson syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- historical
Pseudoleprechaunism syndrome, Patterson type is a rare, genetic, adrenal disorder characterized by congenital bronzed hyperpigmentation, cutis laxa of the hands and feet, body disproportion (comprising large hands, feet, nose and ears), hirsutism and severe intellectual disability. Patients additionally present hyperadrenocorticism, cushingoid features, premature adrenarche and diabetes mellitus, as well as skeletal deformities (not present at birth and which progress with age). There have been no further descriptions in the literature since 1981.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pseudoleprechaunism syndrome, Patterson type | Patterson pseudoleprechaunism syndrome · Patterson syndrome |
| fr | Pseudolepréchaunisme de Patterson | |
| de | Pseudo-Leprechaunismus-Syndrom Typ Patterson | Patterson Pseudo-Leprechaunismus-Syndrom · Patterson-Syndrom |
| es | Síndrome de pseudoleprechaunismo tipo Patterson | Síndrome de Patterson · Síndrome de pseudo leprechaunismo de Patterson |
| it | Pseudoleprecaunismo, tipo Patterson | |
| nl | Pseudoleprechaunismesyndroom, Patterson-type | Pseudoleprechaunismesyndroom van Patterson · Syndroom van Patterson |
| pt | Síndrome de pseudo-leprechaunismo, tipo Patterson | Síndrome de peudo-leprechaunismo de Patterson |
| pl | Zespół pseudoleprechaunizmu typu Pattersona | = en |
| cs | Pseudoleprechaunismus, Pattersonův typ | = en |
| uk | Синдром псевдолепреконізму, тип Паттерсона | Синдром псевдолепреконізму Паттерсона · Синдром Паттерсона |
| zh | 假性矮妖精貌综合征，Patterson型 | Patterson假性矮妖精貌综合征 |
| tr | Psödoleprekaunizm sendromu, Patterson tipi | Patterson sendromu · Patterson psödoleprekonizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 169170 | E | validated | |
| ICD-10 | E34.8 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0008211 | E | validated | |
| MeSH | C536310 | E | validated | |
| UMLS | C1868546 | E | validated | |
| GARD | 4259 | 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:314749Rare disease with adrenal Cushing syndrome as a major feature
rare endocrine diseases - ORPHA:183637Rare genetic adrenal disease
rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 7277424 [PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_7277424 [PMID][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
29 annotations · validated 2017-01-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:3000077 | Abnormal mandible condylar process morphology | |
| HP:0012767 | Abnormal placental size | |
| HP:0430005 | Abnormality of ethmoid bone | |
| HP:0006505 | Abnormality of limb epiphysis morphology | |
| HP:0003310 | Abnormality of the odontoid process | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0000015 | Bladder diverticulum | |
| HP:0008788 | Delayed pubic bone ossification | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000819 | Diabetes mellitus | |
| HP:0003180 | Flat acetabular roof | |
| HP:0007574 | Generalized bronze hyperpigmentation | |
| HP:0002857 | Genu valgum | |
| HP:0001007 | Hirsutism | |
| HP:0430028 | Hyperplasia of the maxilla | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001386 | Joint swelling | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0001176 | Large hands | |
| HP:0001833 | Long foot | |
| HP:0000400 | Macrotia | |
| HP:0004979 | Metaphyseal sclerosis | |
| HP:0007517 | Palmoplantar cutis laxa | |
| HP:0000448 | Prominent nose | |
| HP:0002684 | Thickened calvaria | |
| Frequent (79-30%) | ||
| HP:0010819 | Atonic seizure | |
| HP:0030348 | Increased circulating androgen concentration | |
| HP:0012412 | Premature adrenarche | |
| Excluded (0%) | ||
| HP:0001511 | Intrauterine growth retardation | |
Annotation source: 7277424[PMID]_14484402[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2976
- This record as JSON: /data/d/2976.json