Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
Synonyms: CTNNB1 syndrome · CTNNB1-NDD · CTNNB1-related neurodevelopmental disorder
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy
- Status
- active
A rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome | CTNNB1 syndrome · CTNNB1-NDD · CTNNB1-related neurodevelopmental disorder |
| fr | Syndrome de déficience intellectuelle-anomalies de l'oeil-microcéphalie-spasticité périphérique | CTNNB1-NDD · Syndrome CTNNB1 · Syndrome du neuro-développement lié à CTNNB1 · Syndrome neurodéveloppemental lié à CTNNB1 |
| de | Intelligenzminderung-Augenanomalien-Mikrozephalie-periphere Spastik-Syndrom | CTNNB1-NDD · CTNNB1-assoziierte neurologische Entwicklungsstörung · NEDSDV · Neurologische Entwicklungsstörung mit spastischer Diplegie und Sehstörungen |
| es | Síndrome de discapacidad intelectual-anomalías oculares-microcefalia-espasticidad periférica | Síndrome CTNNB1 · TND-CTNNB1 · Trastorno del neurodesarrollo asociado a CTNNB1 |
| it | Sindrome disabilità intellettiva-anomalie oculari-microcefalia-spasticità periferica | Sindrome CTNNB1 · CTNNB1-NDD · Disturbo dello sviluppo neurologico correlato a CTNNB1 |
| nl | Intellectuele achterstand - oogafwijkingen - microcefalie - perifere spasticiteit-syndroom | CTNNB1-NDD · CTNNB1-gerelateerde neurologische ontwikkelingsstoornis · CTNNB1-syndroom |
| pt | Síndrome de perturbação do desenvolvimento intelectual grave-diplegia espástica progressiva | |
| pl | Zespół niepełnosprawności intelektualnej-nieprawidłowości okulistycznych-małogłowia-spastyczności obwodowejtycznej | Zespół niepełnosprawności intelektualnej, spastyczności obwodowej i wysiękowej witreoretinopatii |
| cs | Syndrom zahrnující těžkou mentální retardaci a progresivní spastickou diplegii | = en |
| uk | Синдром прогресуючої спастичної диплегії з вираженою інтелектуальною недостатністю | Синдром CTNNB1 |
| zh | 严重智力障碍-进行性痉挛性截瘫综合征 | CTNNB1综合征 |
| tr | Ağır zihinsel yetersizlik-ilerleyici spastik dipleji sendromu | CTNNB1 sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615075 | E | validated | |
| ICD-10 | G80.1 | BTNT | attributed | validated |
| MONDO | 0014035 | E | validated | |
| UMLS | C5190576 | E | validated | |
| GARD | 3505 | 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 (3):
- 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 - ORPHA:716446Rare disorder with progressive vitreoretinopathy disorder as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| CTNNB1 | Disease-causing germline mutation(s) in | Assessed | HGNC:2514 | ENSG00000168036 | 116806 | 3p22.1 | catenin beta 1 | 24614104[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 24668549[PMID]_23033978[PMID]_24614104[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_24668549[PMID]_23033978[PMID]_24614104[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
32 annotations · validated 2019-07-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0008936 | Axial hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0000252 | Microcephaly | |
| HP:0001270 | Motor delay | |
| HP:0002465 | Poor speech | |
| HP:0001257 | Spasticity | |
| Frequent (79-30%) | ||
| HP:0000478 | Abnormality of the eye | |
| HP:0000708 | Atypical behavior | |
| HP:0002376 | Developmental regression | |
| HP:0011451 | Primary microcephaly | |
| Occasional (29-5%) | ||
| HP:0025160 | Abnormal temper tantrums | |
| HP:0000718 | Aggressive behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0000455 | Broad nasal tip | |
| HP:0002188 | Delayed CNS myelination | |
| HP:0000540 | Hypermetropia | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0000343 | Long philtrum | |
| HP:0009765 | Low hanging columella | |
| HP:0000545 | Myopia | |
| HP:0100716 | Self-injurious behavior | |
| HP:0002360 | Sleep abnormality | |
| HP:0000319 | Smooth philtrum | |
| HP:0000486 | Strabismus | |
| HP:0003396 | Syringomyelia | |
| HP:0002144 | Tethered cord | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0002119 | Ventriculomegaly | |
| Very rare (<4-1%) | ||
| HP:0000365 | Hearing impairment | |
| HP:0001250 | Seizure | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 25326669[PMID]_24614104[PMID]_23033978[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/404473
- This record as JSON: /data/d/404473.json