ORPHA:488627
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome with intellectual disability characterized by infantile onset of global developmental delay, severe intellectual disability, growth deficiency, microcephaly, strabismus, blue-gray sclerae, and extensive Mongolian spots. Some patients also present with epilepsy. Brain imaging may demonstrate variable abnormalities including cerebral atrophy, thin corpus callosum, ventriculomegaly, or arachnoid cysts.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome | |
| fr | Syndrome de retard de croissance sévère-strabisme-mélanocytose dermique congénitale-déficience intellectuelle | |
| de | Schwere Wachstumsstörung-Strabismus-extensive dermale Melanozytose-Intelligenzminderung-Syndrom | |
| es | Síndrome de deficiencia grave del crecimiento-estrabismo-melanocitosis dérmica extensa-discapacidad intelectual | |
| it | Sindrome grave ritardo della crescita-strabismo-estesa melanocitosi dermica -disabilità intellettiva | |
| nl | Ernstige groeiachterstand - strabisme - extensieve dermale melanocytose - intellectuele achterstand-syndroom | |
| pt | Síndrome de atraso do crescimento grave-estrabismo-melanocitose dérmica extensa-perturbação do desenvolvimento intelectual | |
| pl | Zespół znacznego niedoboru wzrostu, zeza, nasilonej melanocytozy skórnej i niepełnosprawności intelektualnej | |
| cs | Syndrom zahrnující těžký růstový deficit, strabizmus, rozsáhlou dermální melanocytózu a mentální retardaci | |
| uk | Синдром тяжкої затримки росту-косоокості-екстенсивного меланоцитозу шкіри-інтелектуальної недостатності | |
| zh | 严重的生长发育缺陷-斜视-广泛的皮肤黑素细胞增多症-智力障碍综合征 | |
| tr | Ağır büyüme eksikliği-şaşılık-yaygın dermal melanositoz-zihinsel yetersizliksendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617051 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014886 | E | validated | |
| UMLS | C5567481 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:183466Genetic hyperpigmentation of the skin
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:79375Hyperpigmentation of the skin
rare skin diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PUS3 | Disease-causing germline mutation(s) in | Assessed | HGNC:25461 | ENSG00000110060 | 616283 | 11q24.2 | pseudouridine synthase 3 | 27055666[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 27055666[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27055666[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.
6
HPO phenotypes
40 annotations · validated 2020-01-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000280 | Coarse facial features | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0001263 | Global developmental delay | |
| HP:0001250 | Seizure | |
| Frequent (79-30%) | ||
| HP:0007334 | Bilateral tonic-clonic seizure with focal onset | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0012622 | Chronic kidney disease | |
| HP:0012213 | Decreased glomerular filtration rate | |
| HP:0001288 | Gait disturbance | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0007052 | Multifocal cerebral white matter abnormalities | |
| HP:0002465 | Poor speech | |
| HP:0000253 | Progressive microcephaly | |
| HP:0000093 | Proteinuria | |
| Occasional (29-5%) | ||
| HP:0001344 | Absent speech | |
| HP:0000718 | Aggressive behavior | |
| HP:0100702 | Arachnoid cyst | |
| HP:0100814 | Blue nevus | |
| HP:0000592 | Blue sclerae | |
| HP:0000961 | Cyanosis | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0006989 | Dysplastic corpus callosum | |
| HP:0002141 | Gait imbalance | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002857 | Genu valgum | |
| HP:0001347 | Hyperreflexia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0006956 | Lateral ventricle dilatation | |
| HP:0040329 | Multifocal hyperintensity of cerebral white matter on MRI | |
| HP:0000100 | Nephrotic syndrome | |
| HP:0000639 | Nystagmus | |
| HP:0002193 | Pseudobulbar behavioral symptoms | |
| HP:0000709 | Psychosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0000486 | Strabismus | |
| HP:0001970 | Tubulointerstitial nephritis | |
| HP:0002119 | Ventriculomegaly | |
| HP:0002367 | Visual hallucinations | |
| HP:0000505 | Visual impairment | |
Run the differential on the 4 obligate / very frequent terms
Annotation source: 30697592[PMID]_30308082[PMID]_27055666[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/488627
- This record as JSON: /data/d/488627.json