KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
Synonyms: Diets-Jongmans Syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by mild or moderate intellectual disability, developmental delay, short stature and facial dysmorphism (long ears, prominant nasal tip, low columella, thin upper lip, broad mouth and prominent chin) due to <i>KDM3B</i> mutations. Neonatal feeding difficulties, childhood hypotonia, and behaviour problems were also reported in some patients.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome | Diets-Jongmans Syndrome |
| fr | Syndrome de déficience intellectuelle-dysmorphie faciale-petite taille associé à KDM3B | Syndrome de Diets-Jongmans |
| de | KDM3B-assoziierte Intelligenzminderung mit Gesichtsdysmorphien und Kleinwuchs | Diets-Jongmans-Syndrom |
| es | Síndrome de discapacidad intelectual-dismorfia facial-talla baja asociado a KDM3B | Síndrome de Diets-Jongmans |
| it | Sindrome da disabilità intellettiva-dismorfismi facciali-bassa statura correlata a KDM3B | Sindrome di Diets-Jongmans |
| nl | KDM3B-gerelateerd intellectuele achterstand - faciale dysmorfie - kleine gestalte-syndroom | Syndroom van Diets-Jongmans |
| pt | Síndrome de perturbação do desenvolvimento intelectual-dismorfismo facial-baixa estatura KDM3B-relacionada | Síndrome Diets-Jongmans |
| pl | Związany z KDM3B zespół niepełnosprawności intelektualnej, dysmorfii twarzy i niskiego wzrostu | = en |
| cs | Syndrom související s KDM3B zahrnující mentální retardaci, obličejovou dysmorfii a malý vzrůst | = en |
| uk | KDM3B-повязаний синдром інтелектуальної недостатності-дисморфізму обличчя-низькорослості | Синдром Дієти-Йонгманса |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618846 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0858999 | E | validated | |
| UMLS | C5394263 | 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 (4):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - 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 |
|---|---|---|---|---|---|---|---|---|
| KDM3B | Disease-causing germline mutation(s) in | Assessed | HGNC:1337 | ENSG00000120733 | 609373 | 5q31.2 | lysine demethylase 3B | 30929739[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 17 cases | Worldwide | Case(s) | Validated | 30929739[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 30929739[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/633004
- This record as JSON: /data/d/633004.json