Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
Synonyms: RAC3-related syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay (in some patients also severe language deficiency), intellectual disability, hypotonia, peculiar brain malformations (including dysplastic corpus callosum, cortical malformations included dysgyria and polymicrogyria), and facial dysmorphism (including wide forehead with frontal bossing and high anterior hairline, prominent eyes with upslanted palpebral fissures, arched eyebrows, long eyelashes, midface hypoplasia, broad nasal bridge and anteverted nares). Dysphagia, failure to thrive, seizures, musculoskeletal abnormalities (such as scoliosis, vertebral defects, pes planus and joint laxity) are also present in the majority of the patients. Additional clinical features may include dyspraxia, genitourinary, ocular, respiratory, endocrinological and behavioural abnormalities.
Names in Orphadata languages
10 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome | RAC3-related syndrome |
| fr | Syndrome de dysmorphie faciale-retard global de développement-hypotonie-polymicrogyrie | Syndrome associé à RAC3 |
| de | Gesichtsdysmorphie-globale Entwicklungsverzögerung-Hypotonie-Polymikrogyrie-Syndrom | Neuroentwicklungsstörung mit strukturellen Hirnanomalien und dysmorphen Gesichtszügen · RAC3-assoziiertes Syndrom |
| es | Síndrome de dismorfia facial-retraso global del desarrollo-hipotonía-polimicrogiria | Síndrome asociado a RAC3 |
| it | Sindrome dismorfismi facciali-ritardo dello sviluppo globale-ipotonia-polimicrogiria | Sindrome correlata a RAC3 |
| nl | Faciale dysmorfie - algehele ontwikkelingsachterstand - hypotonie - polymicrogyrie-syndroom | RAC3-gerelateerd syndroom |
| pt | Síndrome de dismorfia facial-perturbação do desenvolvimento intelectual-hipotonia-polimicrogiria | Síndrome RAC3-relacionada |
| pl | Zespół z dysmorfią twarzy, globalnym opóżnieniem rozwoju, hipotonią i polimikrogyrią | = en |
| cs | Syndrom zahrnující faciální dysmorfii, celkové vývojové opoždění, hypotonii a polymikrogyrii | = en |
| uk | Синдром дисморфізму обличчя-глобальної затримки розвитку-гіпотонії-полімікрогірії | Синдром, повязаний з RAC3 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618577 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0032820 | E | validated | |
| MONDO | 32820 | E | validated | |
| UMLS | C5925138 | 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 (3):
- 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:269531Other syndrome with a central nervous system malformation as a major feature
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RAC3 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:9803 | ENSG00000169750 | 602050 | 17q25.3 | Rac family small GTPase 3 | 35851598[PMID] |
Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 35851598[PMID]_30293988[PMID] | |
| Lifetime Prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 35851598[PMID]_30293988[PMID]_ORPHANET |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 35851598[PMID]_30293988[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/659609
- This record as JSON: /data/d/659609.json