ORPHA:363686
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome | |
| fr | Syndrome de déficience intellectuelle sévère-trouble du langage-strabisme-visage grimaçant-doigts longs | |
| de | Schwere Intelligenzminderung-eingeschränktes Sprachvermögen-Strabismus-grimassierendes Gesicht-lange Finger-Syndrom | |
| es | Síndrome de discapacidad intelectual grave-lenguaje pobre-estrabismo-cara con muecas-dedos largos | |
| it | Sindrome da disabilità intellettiva grave, deficit del linguaggio, strabismo, smorfie facciali e dita lunghe | |
| nl | Ernstige intellectuele achterstand - taalachterstand - strabisme - grimasserend gezicht - lange vingers-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual grave-défice de linguagem-estrabismo-face em careta-dedos longos | |
| pl | Zespół ciężka niepełnosprawność intelektualna-słabe umiejętności językowe-zez-grymas na twarzy-długie palce dłoni | |
| cs | Syndrom zahrnující těžkou mentální retardaci, poruchu řeči, strabismus, grimasování a dlouhé prsty ruky | |
| uk | Синдром глибокої розумової відсталості-бідної мови-косоокості-гримаси на обличчі-довгих пальців | |
| zh | 重度智力障碍-语言贫乏-斜视-鬼脸-长指综合征 | |
| tr | Ağır zihinsel yetersizlik-zayıf dil-şaşılık-yüz buruşturan-uzun parmak sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615074 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0014034 | E | validated | |
| UMLS | C4750954 | E | validated | |
| GARD | 12815 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GATAD2B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:30778 | ENSG00000143614 | 614998 | 1q21.3 | GATA zinc finger domain containing 2B | 23644463[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 23644463[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 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.
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HPO phenotypes
48 annotations · validated 2019-08-02| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0002500 | Abnormal cerebral white matter morphology | |
| HP:0000337 | Broad forehead | |
| HP:0000455 | Broad nasal tip | |
| HP:0012448 | Delayed myelination | |
| HP:0000273 | Facial grimacing | |
| HP:0002213 | Fine hair | |
| HP:0008947 | Floppy infant | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0001263 | Global developmental delay | |
| HP:0000752 | Hyperactivity | |
| HP:0000484 | Hyperopic astigmatism | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0100807 | Long fingers | |
| HP:0002465 | Poor speech | |
| HP:0000322 | Short philtrum | |
| HP:0000486 | Strabismus | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000154 | Wide mouth | |
| Occasional (29-5%) | ||
| HP:0000483 | Astigmatism | |
| HP:0000729 | Autistic behavior | |
| HP:0009836 | Broad distal phalanx of finger | |
| HP:0012450 | Chronic constipation | |
| HP:0000490 | Deeply set eye | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000286 | Epicanthus | |
| HP:0011968 | Feeding difficulties | |
| HP:0002007 | Frontal bossing | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0000748 | Inappropriate laughter | |
| HP:0002546 | Incomprehensible speech | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001382 | Joint hypermobility | |
| HP:0000637 | Long palpebral fissure | |
| HP:0010511 | Long toe | |
| HP:0000744 | Low frustration tolerance | |
| HP:0002061 | Lower limb spasticity | |
| HP:0000347 | Micrognathia | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0008770 | Obsessive-compulsive trait | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000629 | Periorbital fullness | |
| HP:0000742 | Self-mutilation | |
| HP:0002360 | Sleep abnormality | |
| HP:0100033 | Tics | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001566 | Widely-spaced maxillary central incisors | |
Annotation source: 23033978[PMID]_23644463[PMID]_30482549[PMID]_31205050[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/363686
- This record as JSON: /data/d/363686.json