ORPHA:513456
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
Synonyms: Skraban-Deardorff syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, intellectual disability, seizures, abnormal gait, and craniofacial dysmorphism (including coarse features, depressed nasal bridge, anteverted nares, broad nasal tip, prominent maxilla and upper lip, wide mouth, abnormal gingiva, and widely spaced teeth). Additional reported manifestations are ocular anomalies, cardiac defects, gastrointestinal problems, and autistic features. Brain imaging may show thin corpus callosum, white matter abnormalities, or dilated ventricles.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome | Skraban-Deardorff syndrome |
| fr | Syndrome de déficience intellectuelle-épilepsie-démarche anormale-dysmorphie faciale | Syndrome de Skraban-Deardorff |
| de | Intelligenzminderung-Krampfanfälle-Ganganomalien-Gesichtsdysmorphie-Syndrom | Skraban-Deardorff-Syndrom |
| es | Síndrome de discapacidad intelectual-crisis-trastornos de la marcha-dismorfia facial | Síndrome de Skraban-Deardorff |
| it | Sindrome disabilità intellettiva-convulsioni-anomalie dell'andatura-dismorfismi facciali | Sindrome di Skraban-Deardorff |
| nl | Intellectuele achterstand - insulten - abnormale gang - faciale dysmorfie-syndroom | Syndroom van Skraban-Deardorff |
| pt | Síndrome de perturbação do desenvolvimento intelectual-convulsões-marcha anómala-dismorfia facial | |
| pl | Zespół niepełnosprawności intelektualnej-drgawek-nieprawidłowego chodu-dysmorfii twarzy | zespół Skraban i Deardorffa |
| cs | Syndrom zahrnující mentální retardaci, záchvaty, abnormální chůzi a faciální dysmorfismus | Skrabanové-Deardorffův syndrom · Skraban-Deardorffův syndrom |
| uk | Синдром інтелектуальної недостатності-судом-аномальної ходи-лицьового дисморфізму | Синдром Скрабана-Дірдорфа |
| zh | 智力障碍-癫痫-步态异常-面容畸形综合症 | Skraban-Deardorff综合征 |
| tr | Zihinsel yetersizlik-nöbetler-anormal yürüyüş-yüz dismorfizm sendromu | Skraban-Deardorff sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617616 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0054636 | E | validated | |
| UMLS | C4539927 | 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 (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.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| WDR26 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21208 | ENSG00000162923 | 617424 | 1q42.11-q42.12 | WD repeat domain 26 | 28686853[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 28686853[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28686853[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
62 annotations · validated 2020-01-24| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0010803 | Everted upper lip vermilion | |
| HP:0000293 | Full cheeks | |
| HP:0430028 | Hyperplasia of the maxilla | |
| HP:0001249 | Intellectual disability | |
| HP:0001250 | Seizure | |
| HP:0000687 | Widely spaced teeth | |
| Frequent (79-30%) | ||
| HP:0000168 | Abnormality of the gingiva | |
| HP:0010800 | Absent cupid's bow | |
| HP:0000463 | Anteverted nares | |
| HP:0002069 | Bilateral tonic-clonic seizure | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0000280 | Coarse facial features | |
| HP:0025336 | Delayed ability to sit | |
| HP:0031936 | Delayed ability to walk | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001508 | Failure to thrive | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0001252 | Hypotonia | |
| HP:0007800 | Increased axial length of the globe | |
| HP:0000347 | Micrognathia | |
| HP:0011342 | Mild global developmental delay | |
| HP:0005274 | Prominent nasal tip | |
| HP:0011344 | Severe global developmental delay | |
| HP:0005338 | Sparse lateral eyebrow | |
| Occasional (29-5%) | ||
| HP:0006897 | Abducens palsy | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0011842 | Abnormality of skeletal morphology | |
| HP:0040115 | Abnormality of the Eustachian tube | |
| HP:0001344 | Absent speech | |
| HP:0000646 | Amblyopia | |
| HP:0000729 | Autistic behavior | |
| HP:0002136 | Broad-based gait | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0006808 | Cerebral hypomyelination | |
| HP:0000175 | Cleft palate | |
| HP:0002019 | Constipation | |
| HP:0002373 | Febrile seizure (within the age range of 3 months to 6 years) | |
| HP:0002066 | Gait ataxia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0011471 | Gastrostomy tube feeding in infancy | |
| HP:0001385 | Hip dysplasia | |
| HP:0000540 | Hypermetropia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0005750 | Lower-limb joint contracture | |
| HP:0025186 | Marcus Gunn jaw winking synkinesis | |
| HP:0001840 | Metatarsus adductus | |
| HP:0000252 | Microcephaly | |
| HP:0000545 | Myopia | |
| HP:0010740 | Osteopathia striata | |
| HP:0001302 | Pachygyria | |
| HP:0001761 | Pes cavus | |
| HP:0012683 | Pineal cyst | |
| HP:0000403 | Recurrent otitis media | |
| HP:0008762 | Repetitive compulsive behavior | |
| HP:0012020 | Right aortic arch | |
| HP:0012172 | Stereotypical body rocking | |
| HP:0000486 | Strabismus | |
| HP:0002779 | Tracheomalacia | |
| HP:0001629 | Ventricular septal defect | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 28686853[PMID]_31021590[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/513456
- This record as JSON: /data/d/513456.json