Jansen-de Vries syndrome
Synonyms: Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome · JDVS
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild to severe intellectual disability and/or developmental delay, speech delay, behavioral problems (attention deficit-hyperactivity disorder, autism and anxiety disorders, outgoing hyper-social personality), periods of fever and cyclic vomitting. Most patients manifest additional clinical features, including gastrointestinal symptoms (poor feeding and constipation), facial dysmorphism (broad forehead, low-set posteriorly rotated ears, upturned nose and broad mouth with thin upper lip), small hands and feet often with brachydactyly, short stature, high pain threshold and/or hypersensitivity to sound, hypotonia and broad-based gait.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Jansen-de Vries syndrome | Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome · JDVS |
| fr | Syndrome Jansen-de Vries | JDVS · Syndrome de retard du développement-troubles du comportement-mains et pieds réduits-vomissements cycliques-dysmorphie |
| de | Jansen-de Vries-Syndrom | Entwicklungsverzögerung-Verhaltensauffälligkeiten-kleine Hände und Füße-zyklisches Erbrechen-Gesichtsdysmorphie-Syndrom · JDVS |
| es | Síndrome de Jansen-de Vries | JDVS · Síndrome de retraso del desarrollo-trastornos de la conducta-manos y pies pequeños-vómitos cíclicos-rasgos dismórficos |
| it | Sindrome di Jansen-de Vries | JDVS · Sindrome ritardo dello sviluppo-problemi comportamentali-mani e piedi piccoli-vomito ciclico-dismorfismi |
| nl | Syndroom van Jansen-de Vries | JDVS · Ontwikkelingsachterstand - gedragsstoornis - kleine handen en voeten - cyclisch braken - dysmorfe kenmerken-syndroom |
| pt | Síndrome Jansen-de Vries | JDVS · Síndrome de perturbação do desenvolvimento intelectual-perturbação comportamental-mãos e pés pequenos-vómitos cíclicos-dismorfia |
| pl | Zespół Jansena-de Vries | = en |
| cs | Jansenové-de Vriesové syndrom | = en |
| uk | Синдром Янсена-де-Вріса | Синдром затримки розвитку - поведінкових проблем - маленьких кистей та стоп - циклічного блювання - дисморфічних особливостей · JDVS |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617450 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0044318 | E | validated | |
| MONDO | 44318 | E | validated | |
| UMLS | C4479517 | 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: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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PPM1D | Disease-causing germline mutation(s) in | Assessed | HGNC:9277 | ENSG00000170836 | 605100 | 17q23.3 | protein phosphatase, Mg2+/Mn2+ dependent 1D | 28343630[PMID]_7183572[PMID]_37385405[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 51 cases | Worldwide | Case(s) | Validated | 28343630[PMID]_37183572[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 28343630[PMID]_37183572[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/653767
- This record as JSON: /data/d/653767.json