Prader-Willi-like syndrome
Synonyms: PWS-like
- Type
- Clinical group
- Group
- Group of disorders
- Age of onset
- Neonatal
- Status
- active
A rare group of multiple congenital anomalies/dysmorphic syndrome characterized by autism spectrum disorder, developmental delay, intellectual disability, hyperphagia/obesity, and short stature (clinical features overlapping with Prader-Willi syndrome). However, it is a clinically and genetically heterogenous group where patients may completely lack or manifests in minority some classical clinical features of Prader-Willi syndrome such as short stature, hypotonia, hypogonadism, hyperphagia and morbid obesity.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Prader-Willi-like syndrome | PWS-like |
| fr | Syndrome de Prader-Willi-like | SPW-like |
| de | Prader-Willi-ähnliches Syndrom | |
| es | Síndrome similar a Prader-Willi | Similar a PWS · Síndrome de Prader-Willi-like |
| it | Sindrome Prader-Willi-simile | PWS-simile |
| nl | Prader-Willi-achtig syndroom | PWS-achtig |
| pt | Síndrome Prader-Willi-like | |
| pl | Zespół podobny do zespołu Pradera i Willego | Zespół podobny do PWS |
| cs | Syndrom Prader-Willi-like | = en |
| uk | Синдром Прадера-Віллі | PWS-подібні |
| zh | 普拉德-威利样综合征 | 类PWS |
| tr | Prader-Willi benzeri sendrom | PWS benzeri |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| MONDO | 0018354 | E | validated | |
| MONDO | 18354 | E | validated | |
| UMLS | C3809877 | 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 (6):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:399846Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
rare genetic diseases; rare infertility disorders - ORPHA:181387Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
rare genetic diseases; rare endocrine diseases; rare infertility disorders; rare gynecological and obstetric diseases - ORPHA:98033Rare neurologic disease with psychiatric involvement
rare neurological diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 117 cases | Worldwide | Case(s) | Validated | 24737477[PMID] | |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET_24737477[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/398073
- This record as JSON: /data/d/398073.json