Birk-Barel syndrome
Synonyms: Birk-Barel Intellectual Disability-Dimorphism syndrome · Intellectual disability-hypotonia-facial dysmorphism syndrome · KCNK9 imprinting syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Birk-Barel syndrome | Birk-Barel Intellectual Disability-Dimorphism syndrome · Intellectual disability-hypotonia-facial dysmorphism syndrome · KCNK9 imprinting syndrome |
| fr | Syndrome de Birk-Barel | Syndrome d'empreinte KCNK9 · Syndrome de déficience intellectuelle-dimorphisme de Birk-Barel · Syndrome de déficience intellectuelle-hypotonie-dysmorphie faciale |
| de | Birk-Barel-Syndrom | Intelligenzminderung Typ Birk-Barel · KCNK9-assoziiertes Imprinting-Syndrom · Syndromale Intelligenzminderung mit Hypotonie und Gesichtsdysmorphien |
| es | Síndrome de Birk-Barel | Síndrome de discapacidad intelectual-dismorfia de Birk-Barel · Síndrome de discapacidad intelectual-hipotonía-dismorfia facial · Síndrome de impronta KCNK9 |
| it | Disabilità intellettiva tipo Birk-Barel | Sindrome disabilità intellettiva-ipotonia-dismorfismi facciali · Sindrome disabilità intellettiva-dismorfismi di Birk-Barel · Sindrome disabilità intellettiva-ipotonia-dismorfismi facciali · Sindrome da imprinting di KCNK9 |
| nl | Syndroom van Birk-Barel | Intellectuele achterstand - hypotonie - faciale dysmorfie-syndroom · Intellectuele achterstand, Birk-Barel-type - dimorfisme-syndroom · KCNK9-imprintingsyndroom |
| pt | Perturbação do desenvolvimento intelectual, tipo Birk-Barel | Síndrome de perturbação do desenvolvimento intelectual-hipotonia-dismorfia facial |
| pl | Zespół Birk-Barel | Niepełnosprawność intelektualna - hipotonia - dysmorfia twarzy |
| cs | Mentální retardace, Birkův-Barelův typ | Syndrom zahrnující mentální retardaci, hypotonii a faciální dysmorfismus · Mentální retardace, Birk-Barelův typ |
| uk | Інтелектуальна недостатність, тип Бірк-Бареля | Синдром інтелектуальної недостатності-гіпотонії-лицевого дисморфізму |
| zh | Birk-Barel 型智力障碍 | 智力障碍-张力过低-面部畸形综合征 |
| tr | zihinsel yetersizlik, Birk-Barel tipi | Zihinsel yetersizlik-hipotoni-fasiyal dismorfizm sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612292 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0012856 | E | validated | |
| MeSH | C567357 | E | validated | |
| UMLS | C2676770 | E | validated | |
| GARD | 10358 | 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 (2):
- ORPHA:98746Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
rare genetic diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNK9 | Disease-causing germline mutation(s) in | Assessed | HGNC:6283 | ENSG00000169427 | 605874 | 8q24.3 | potassium two pore domain channel subfamily K member 9 | 18678320[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 1 families | Worldwide | Family(ies) | Validated | 18678320[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_18678320[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
33 annotations · validated 2019-07-29| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000455 | Broad nasal tip | |
| HP:0000289 | Broad philtrum | |
| HP:0000268 | Dolichocephaly | |
| HP:0002015 | Dysphagia | |
| HP:0001618 | Dysphonia | |
| HP:0030197 | Fatigable weakness of skeletal muscles | |
| HP:0030200 | Fatiguable weakness of proximal limb muscles | |
| HP:0011968 | Feeding difficulties | |
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| HP:0002705 | High, narrow palate | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000752 | Hyperactivity | |
| HP:0000338 | Hypomimic face | |
| HP:0011081 | Incisor macrodontia | |
| HP:0000347 | Micrognathia | |
| HP:0000341 | Narrow forehead | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0001319 | Neonatal hypotonia | |
| HP:0000194 | Open mouth | |
| HP:0000411 | Protruding ear | |
| HP:0000960 | Sacral dimple | |
| HP:0000322 | Short philtrum | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0012471 | Thick vermilion border | |
| Occasional (29-5%) | ||
| HP:0001284 | Areflexia | |
| HP:0005879 | Congenital finger flexion contractures | |
| HP:0008366 | Foot joint contracture | |
| HP:0005060 | Limited elbow flexion/extension | |
| HP:0007002 | Motor axonal neuropathy | |
| HP:0007269 | Spinal muscular atrophy | |
| HP:0001308 | Tongue fasciculations | |
Annotation source: 30690205[PMID]_27151206[PMID]_18678320[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/166108
- This record as JSON: /data/d/166108.json