Intellectual disability-nasal speech-craniofacial dysmorphism syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay, intellectual disability, hypotonia and characteristic nasal speech associated with language delay. Distinctive craniofacial dysmorphic features include a high and flat forehead, straight and thick eyebrows, deep-set eyes, upslanting palpebral fissures, short triangular nose with anteverted nares, thin upper lip, mild micrognathia/retrognathia, and low-set ears. Feeding problems, seizures, behavioral abnormalities, variable skeletal and hand/foot anomalies may also be present in some patients. This syndrome can develop in patients harboring <i>CNOT2</i> mutation or intragenic deletion, or presenting with 12q15q21 microdeletion.
Names in Orphadata languages
9 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-nasal speech-craniofacial dysmorphism syndrome | |
| fr | Syndrome de déficience intellectuelle-voix nasonnée-dysmorphie craniofaciale | |
| de | Intelligenzminderung-nasale Sprache-kraniofaziale Dysmorphie-Syndrom | Intellektuelle Entwicklungsstörung mit nasaler Sprache, dysmorphen Gesichtszügen und variablen Skelettanomalien · IDNADFS |
| es | Síndrome de discapacidad intelectual-voz nasal-dismorfia craneofacial | |
| it | Sindrome disabilità intellettiva-voce nasale-dismorfismi craniofacciali | |
| nl | Intellectuele achterstand - nasale spraak - craniofaciale dysmorfie-syndroom | |
| pt | Intellectual disability-nasal speech-craniofacial dysmorphism syndrome | |
| pl | Intellectual disability-nasal speech-craniofacial dysmorphism syndrome | |
| cs | Intellectual disability-nasal speech-craniofacial dysmorphism syndrome |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 618608 | 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: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
Genes
0 direct · 2 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| CNOT2 | ORPHA:697764Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:7878 | ENSG00000111596 | 604909 | 12q15 | CCR4-NOT transcription complex subunit 2 | 36224108[PMID] |
| CNOT2 | ORPHA:28951312q15q21 microdeletion syndrome | Role in the phenotype of | Assessed | HGNC:7878 | ENSG00000111596 | 604909 | 12q15 | CCR4-NOT transcription complex subunit 2 | 31145527[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 25 cases | Worldwide | Case(s) | Validated | ORPHANET | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/697760
- This record as JSON: /data/d/697760.json