ORPHA:3051
Nicolaides-Baraitser syndrome
Synonyms: Intellectual disability-sparse hair-brachydactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, syndromic intellectual disability characterized by short stature, sparse hair, characteristic coarse face, brachydactyly with prominent interphalangeal joints, seizures and intellectual disability. Facial characteristics include triangular shaped face, dense and prominent eyelashes, rounded premaxilla, broad nasal base, thick alae nasi, upturned nasal tip, broad philtrum, thin upper vermilion, thick and everted lower vermilion and wide mouth.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Nicolaides-Baraitser syndrome | Intellectual disability-sparse hair-brachydactyly syndrome |
| fr | Syndrome de Nicolaides-Baraitser | Syndrome de déficience intellectuelle-hypotrichose-brachydactylie |
| de | Nicolaides-Baraitser-Syndrom | Intelligenzminderung-spärliches Haar-Brachydaktylie-Syndrom |
| es | Síndrome de Nicolaides-Baraitser | Síndrome de discapacidad intelectual-cabello escaso-braquidactilia |
| it | Sindrome di Nicolaides-Baraitser | Sindrome da disabilità intellettiva, capelli radi e brachidattilia |
| nl | Syndroom van Nicolaides-Baraitser | Intellectuele achterstand - dun haar - brachydactylie-syndroom |
| pt | Síndrome Nicolaides-Baraitser | Síndrome de perturbação do desenvolvimento intelectual-cabelo rarefeito-braquidactilia |
| pl | Niepełnosprawność intelektualna - rzadkie włosy - brachydaktylia | Zespół Nicolaidesa i Baraitsera |
| cs | Syndrom zahrnující mentální retardaci, řídké vlasy a brachydaktylii | Nicolaidesův-Baraitserův syndrom · Nicolaides-Baraitserův syndrom |
| uk | Синдром Ніколаїдеса-Барайцера | Синдром інтелектуальної недостатності-рідкого волосся-брахідактилії |
| zh | 智力障碍-毛发稀疏-肢端短小综合征 | Nicolaides-Baraitser 综合征 |
| tr | Zihinsel yetersizlik-seyrek saç-brakidaktili sendromu | Nicolaides-Baraitser sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601358 | E | validated | |
| ICD-10 | Q87.1 | NTBT | attributed | validated |
| MONDO | 0011053 | E | validated | |
| MeSH | C536116 | E | validated | |
| UMLS | C1303073 | E | validated | |
| GARD | 270 | 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 |
|---|---|---|---|---|---|---|---|---|
| SMARCA2 | Disease-causing germline mutation(s) in | Assessed | HGNC:11098 | ENSG00000080503 | 600014 | 9p24.3 | SWI/SNF related BAF chromatin remodeling complex subunit ATPase 2 | 22366787[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 61 cases | Worldwide | Case(s) | Validated | 25169878[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25169878[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
50 annotations · validated 2017-07-13| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0001596 | Alopecia | |
| HP:0000463 | Anteverted nares | |
| HP:0002381 | Aphasia | |
| HP:0001156 | Brachydactyly | |
| HP:0010529 | Echolalia | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001263 | Global developmental delay | |
| HP:0002705 | High, narrow palate | |
| HP:0001249 | Intellectual disability | |
| HP:0001373 | Joint dislocation | |
| HP:0000343 | Long philtrum | |
| HP:0000252 | Microcephaly | |
| HP:0002300 | Mutism | |
| HP:0004279 | Short palm | |
| HP:0000319 | Smooth philtrum | |
| HP:0008070 | Sparse hair | |
| HP:0001328 | Specific learning disability | |
| HP:0009928 | Thick nasal alae | |
| HP:0000233 | Thin vermilion border | |
| HP:0000325 | Triangular face | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0000035 | Abnormal testis morphology | |
| HP:0001167 | Abnormality of finger | |
| HP:0000581 | Blepharophimosis | |
| HP:0009836 | Broad distal phalanx of finger | |
| HP:0100760 | Clubbing of toes | |
| HP:0000028 | Cryptorchidism | |
| HP:0007665 | Curly eyelashes | |
| HP:0000964 | Eczematoid dermatitis | |
| HP:0011097 | Epileptic spasm | |
| HP:0007392 | Excessive wrinkled skin | |
| HP:0002121 | Generalized non-motor (absence) seizure | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000527 | Long eyelashes | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0001852 | Sandal gap | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0003510 | Severe short stature | |
| HP:0012745 | Short palpebral fissure | |
| HP:0002133 | Status epilepticus | |
| HP:0006610 | Wide intermamillary distance | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0005930 | Abnormality of epiphysis morphology | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0100790 | Hernia | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3051
- This record as JSON: /data/d/3051.json