Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Status
- active
A rare overgrowth/obesity syndrome characterized by mild developmental delay (notably speech delay), behaviour abnormalities (including autistic or attention deficit hyperactivity disorder features, hypersociability/ overfriendliness), overweight/obesity and mild dysmorphic features (including deep set eyes, broad bulbous nasal tip, large everted ears and thin upper lip). Other clinical features include variable and mild intellectual diability when present, broad short hands and feet.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome | |
| fr | Syndrome de retard du développement-surpoids-dysmorphie faciale-troubles du comportement | |
| de | Entwicklungsverzögerung-Übergewicht-Gesichtsdysmorphien-Verhaltensauffälligkeiten-Syndrom | |
| es | Síndrome de retraso del desarrollo-sobrecrecimiento-dismorfia facial-trastornos de conducta | |
| it | Sindrome ritardo dello sviluppo-sovrappeso-dismorfismi facciali-anomalie comportamentali | |
| nl | Ontwikkelingsachterstand - overgewicht - faciale dysmorfie - gedragsstoornis-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento-sobrecrescimento-dismorfia facial-perturbação comportamental | |
| pl | Zespół z opóźnieniem rozwoju, nadwagą, dysmorfią twarzy i zaburzeniami zachowania | |
| cs | Syndrom zahrnující vývojové opoždění, nadváhu, faciální dysmorfii a poruchy chování | |
| uk | Синдром затримки розвитку-надмірної ваги-дисморфізму обличчя-поведінкових відхилень |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620439 | E | validated | |
| ICD-10 | Q87.3 | NTBT | attributed | validated |
| MONDO | 0957397 | E | validated | |
| MONDO | 957397 | E | validated | |
| UMLS | C5924786 | 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:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases - ORPHA:240371Syndromic obesity
rare developmental anomalies during embryogenesis; rare genetic diseases; rare endocrine diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SRRM2 | Disease-causing germline mutation(s) in | Assessed | HGNC:16639 | ENSG00000167978 | 606032 | 16p13.3 | serine/arginine repetitive matrix 2 | 35567594[PMID]_37212523[PMID]_37272925[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/652487
- This record as JSON: /data/d/652487.json