ORPHA:505237
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable developmental delay, intellectual disability, early-onset seizures, and facial dysmorphism (including arched eyebrows, long palpebral fissures, prominent nasal bridge, large ears, thin upper lip, and high arched palate). Other reported features are microcephaly, hypotonia, growth retardation, congenital heart defects, and malformations of the fingers and toes, as well as additional neurologic manifestations (such as ataxia or spastic quadriplegia). Brain imaging may show hypoplastic corpus callosum, white matter abnormalities, or cortical atrophy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome | |
| fr | Syndrome d'épilepsie à début précoce-anomalies des membres distaux-dysmorphie faciale-retard global de développement | |
| de | Früh beginnende Krampfanfälle-distale Gliedmaßenanomalien-Gesichtsdysmorphien-allgemeine Entwicklungsverzögerung-Syndrom | |
| es | Síndrome de crisis de inicio precoz-anomalías de las extremidades distales-dismorfia facial-retraso generalizado del desarrollo | |
| it | Sindrome crisi epilettiche ad esordio precoce-anomalie della parte distale degli arti- dismorfismi facciali-ritardo dello sviluppo globale | |
| nl | Vroeg aanvangende insulten - distale ledemaatanomalieën - faciale dysmorfie - globale ontwikkelingsachterstand-syndroom | |
| pt | Síndrome de convulsões-anomalias distais dos membros-dismorfia facial-atraso do desenvolvimento de início precoce | |
| pl | Zespół napadów padaczkowych o wczesnym początku, wad dystalnych odcinków kończyn, dysmorfii twarzy i całościowego zaburzenia rozwoju | |
| cs | Syndrom zahrnující záchvaty s časným nástupem, anomálie distální části končetin, faciální dysmorfismus a celkové opoždění vývoje | |
| uk | Синдром раннього початку судом-дистальних аномалій кінцівок- дизморфізму обличчя-глобальної затримки розвитку | |
| zh | 早期癫痫发作-远端肢体异常-面部畸形-全身性发育迟缓综合症 | |
| tr | Erken başlangıçlı nöbetler-distal ekstremite anomalileri-fasiyal dismorfizm-yaygın gelişme geriliği sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617452 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0044319 | E | validated | |
| UMLS | C5568770 | 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 (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:166472Monogenic disease with epilepsy
rare genetic diseases; rare neurological 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 |
|---|---|---|---|---|---|---|---|---|
| OTUD6B | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24281 | ENSG00000155100 | 612021 | 8q21.3 | OTU deubiquitinase 6B | 28343629[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 12 cases | Worldwide | Case(s) | Validated | 28343629[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28343629[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.
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HPO phenotypes
53 annotations · validated 2019-02-25| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0010864 | Intellectual disability, severe | Diagnostic criterion |
| HP:0001250 | Seizure | Diagnostic criterion |
| Frequent (79-30%) | ||
| HP:0001344 | Absent speech | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000248 | Brachycephaly | |
| HP:0011304 | Broad thumb | |
| HP:0004325 | Decreased body weight | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0005469 | Flat occiput | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0000218 | High palate | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001187 | Hyperextensibility of the finger joints | |
| HP:0002540 | Inability to walk | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0003121 | Limb joint contracture | |
| HP:0000527 | Long eyelashes | |
| HP:0000276 | Long face | |
| HP:0000637 | Long palpebral fissure | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000400 | Macrotia | |
| HP:0000252 | Microcephaly | |
| HP:0001845 | Overlapping toe | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000278 | Retrognathia | |
| HP:0000960 | Sacral dimple | |
| HP:0002650 | Scoliosis | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001182 | Tapered finger | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000445 | Wide nose | |
| Occasional (29-5%) | ||
| HP:0008772 | Aplasia/Hypoplasia of the external ear | |
| HP:0001166 | Arachnodactyly | |
| HP:0001251 | Ataxia | |
| HP:0001631 | Atrial septal defect | |
| HP:0000729 | Autistic behavior | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0012450 | Chronic constipation | |
| HP:0000028 | Cryptorchidism | |
| HP:0001276 | Hypertonia | |
| HP:0002510 | Spastic tetraplegia | |
| HP:0001257 | Spasticity | |
| HP:0001770 | Toe syndactyly | |
| HP:0001629 | Ventricular septal defect | |
| Very rare (<4-1%) | ||
| HP:0100021 | Cerebral palsy | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28343629[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/505237
- This record as JSON: /data/d/505237.json