ORPHA:529965
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Synonyms: Pilarowski-Bjornsson syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy
- Status
- active
A rare, syndromic intellectual disability characterized by developmental delay, speech apraxia, autism with stereotypies, intellectual disability and unspecific dysmorphic facial features. Seizures or isolated EEG abnormalities may also be associated.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome | Pilarowski-Bjornsson syndrome |
| fr | Syndrome de déficience intellectuelle-autisme-apraxie de la parole-dysmorphie craniofaciale | Syndrome de Pilarowski-Bjornsson |
| de | Intelligenzminderung-Autismus-Sprachapraxie-kraniofaziale Dysmorphie-Syndrom | Pilarowski-Bjornsson-Syndrom |
| es | Síndrome de discapacidad intelectual-autismo-apraxia del habla-dismorfia craneofacial | Síndrome de Pilarowski-Bjornsson |
| it | Sindrome disabilità intellettiva - autismo - aprassia verbale - dismorfismi craniofacciali | |
| nl | Intellectuele achterstand - autisme - spraakapraxie - craniofaciale dysmorfie-syndroom | Syndroom van Pilarowski-Bjornsson |
| pt | Síndrome de perturbação do desenvolvimento intelectual-autismo-apraxia de discurso-dismorfia craniofacial | |
| pl | Zespół niepełnosprawności intelektualnej, autyzmu, apraksji mowy i dysmorfii twarzoczaszkowej | Zespół Pilarowskiegi i Bjornssona |
| cs | Syndrom zahrnující mentální retardaci, autismus, řečovou apraxii a kraniofaciální dysmorfismus | Pilarowské-Bjornssonův syndrom · Pilarowski-Bjornssonův syndrom |
| uk | Синдром інтелектуальної недостатності-аутизму-апраксії мовлення-черепно-лицевого дисморфізму | Синдром Піларовського-Бьорнссона |
| zh | 智力障碍-自闭症-言语失用症-颅面畸形综合征 | Pilarowski-Bjornsson综合征 |
| tr | Zihinsel yetersizlik-otizm-konuşma apraksi-kraniyofasiyal dismorfizm sendromu | Pilarowski-Bjornsson sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 617682 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0060568 | E | validated | |
| UMLS | C4540131 | E | validated | |
| MedDRA | 10090383 | 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 |
|---|---|---|---|---|---|---|---|---|
| CHD1 | Disease-causing germline mutation(s) in | Assessed | HGNC:1915 | ENSG00000153922 | 602118 | 5q15-q21.1 | chromodomain helicase DNA binding protein 1 | 28866611[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 5 cases | Worldwide | Case(s) | Validated | 28866611[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28866611[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
19 annotations · validated 2019-03-18| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001290 | Generalized hypotonia | |
| HP:0001263 | Global developmental delay | |
| Frequent (79-30%) | ||
| HP:0012393 | Allergy | |
| HP:0007874 | Almond-shaped palpebral fissure | |
| HP:0010648 | Dermal translucency | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0002007 | Frontal bossing | |
| HP:0001249 | Intellectual disability | |
| HP:0011800 | Midface retrusion | |
| HP:0000307 | Pointed chin | |
| HP:0011098 | Speech apraxia | |
| HP:0000574 | Thick eyebrow | |
| Occasional (29-5%) | ||
| HP:0001211 | Abnormal fingertip morphology | |
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0000729 | Autistic behavior | |
| HP:0002721 | Immunodeficiency | |
| HP:0000256 | Macrocephaly | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001250 | Seizure | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 28866611[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/529965
- This record as JSON: /data/d/529965.json