Severe X-linked intellectual disability, Gustavson type
Synonyms: Gustavson syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, X-linked syndromic intellectual disability disorder characterized by severe intellectual disability, microcephaly, post-natal growth retardation, severe visual impairment or blindness (due to optic atrophy), severe hearing defect, spasticity, epileptic seizures, restricted large-joint movements and early death (in infancy or early childhood). Facial dysmorphic features (large dysplastic ears and short broad nose) are additionally observed. There have been no further descriptions in the literature since 1993.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe X-linked intellectual disability, Gustavson type | Gustavson syndrome |
| fr | Déficience intellectuelle sévère liée à l'X type Gustavson | Syndrome de Gustavson |
| de | Schwere X-chromosomale Intelligenzminderung Typ Gustavson | Gustavson-Syndrom |
| es | Discapacidad intelectual grave ligada al cromosoma X tipo Gustavson | Síndrome de Gustavson |
| it | Disabilità intellettiva grave legata all'X, tipo Gustavson | Sindrome Gustavson |
| nl | Ernstige X-gebonden intellectuele achterstand, Gustavson-type | Syndroom van Gustavson |
| pt | Perturbação do desenvolvimento intelectual grave ligado ao X, tipo Gustavson | Síndrome Gustavson |
| pl | Głęboka niepełnosprawność intelektualna sprzężona z chromosomem X typu Gustavsona | = en |
| cs | Těžká X-vázaná mentální retardace, Gustavsonův typ | = en |
| uk | Тяжка Х-зчеплена розумова відсталість, тип Густавсона | |
| zh | X连锁严重智力障碍，Gustavson亚型 | |
| tr | Ağır X'e bağlı zihinsel yetersizlik, Gustavson tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 309555 | E | validated | |
| ICD-10 | F72.9 | NTBT | attributed | validated |
| ICD-11 | LD90 | NTBT | attributed | validated |
| MONDO | 0010661 | E | validated | |
| UMLS | C4302744 | E | validated | |
| GARD | 5611 | 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:441434Syndromic hereditary optic neuropathy
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| RBMX | Disease-causing germline mutation(s) in | Assessed | HGNC:9910 | ENSG00000147274 | 300199 | Xq26.3 | RNA binding motif protein X-linked | 37277488[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 8456840[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8456840[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
34 annotations · validated 2019-04-09| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001276 | Hypertonia | |
| HP:0000252 | Microcephaly | |
| HP:0000648 | Optic atrophy | |
| HP:0012715 | Profound hearing impairment | |
| HP:0001250 | Seizure | |
| HP:0008850 | Severe postnatal growth retardation | |
| Frequent (79-30%) | ||
| HP:0005949 | Apneic episodes in infancy | |
| HP:0000618 | Blindness | |
| HP:0012444 | Brain atrophy | |
| HP:0002198 | Dilated fourth ventricle | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0002788 | Recurrent upper respiratory tract infections | |
| HP:0005486 | Small fontanelle | |
| HP:0001518 | Small for gestational age | |
| HP:0001257 | Spasticity | |
| Occasional (29-5%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0001848 | Calcaneovalgus deformity | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0005781 | Contractures of the large joints | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0008110 | Equinovarus deformity | |
| HP:0000239 | Large fontanelles | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0000400 | Macrotia | |
| HP:0000347 | Micrognathia | |
| HP:0001336 | Myoclonus | |
| HP:0001838 | Rocker bottom foot | |
| HP:0006829 | Severe muscular hypotonia | |
| HP:0003196 | Short nose | |
| HP:0001199 | Triphalangeal thumb | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 8456840[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3078
- This record as JSON: /data/d/3078.json