Macrocephaly-intellectual disability-left ventricular non compaction syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- X-linked recessive
- Age of onset
- Infancy
- Status
- active
Macrocephaly-intellectual disability-left ventricular non compaction syndrome is a rare, genetic, syndromic intellectual disability characterized by motor and cognitive developmental delay with language impairment, macrocephaly, hypotonia, dysmorphic facial features (including long face, slanting palpebral fissures and prominent, flattened nose) and left ventricular noncompaction cardiomyopathy. Patients also present skeletal abnormalities (e.g. scoliosis, finger clinodactyly, pes planus), slender build and shy behavior. Strabismus and various neurological signs (including ataxia, tremor and hyperreflexia) may be associated, as well as epilepsy, autism and MRI findings showing a small cerebellum and abnormalities of the corpus callosum. A phenotypic variant with no cardiac involvement has been reported.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Macrocephaly-intellectual disability-left ventricular non compaction syndrome | |
| fr | Syndrome de déficience intellectuelle-macrocéphalie-non-compaction ventriculaire gauche | |
| de | Makrozephalie-Intelligenzminderung-linksventrikuläre Noncompaction-Kardiomyopathie-Syndrom | |
| es | Síndrome de macrocefalia-discapacidad intelectual-no compactación del ventrículo izquierdo | |
| it | Sindrome da macrocefalia, disabilità intellettiva e ventricolo sinistro non compatto | |
| nl | Macrocefalie - intellectuele achterstand - non-compactie van linkerventrikel-syndroom | |
| pt | Síndrome de macrocefalia-perturbação do desenvolvimento intelectual-não compactação ventricular esquerda | |
| pl | Zespół wielkogłowia, niepełnosprawności intelektualnej i niescalenia mięśnia lewej komory | |
| cs | Syndrom makrocefalie, intelektové nedostatečnosti a nekompaktní levé komory | |
| uk | Синдром макроцефалії-інтелектуальної недостатності-некомпресії лівого шлуночка | |
| zh | 巨颅畸形-智力发育迟缓-左心室肌致密化不全综合征 | |
| tr | Makrosefali-zihinsel yetersizlik-sol ventrikül kompaksiyon olmayan sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300967 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010501 | E | validated | |
| UMLS | C5569083 | 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
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| NONO | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7871 | ENSG00000147140 | 300084 | Xq13.1 | non-POU domain containing octamer binding | 26571461[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 6 cases | Worldwide | Case(s) | Validated | 26571461[PMID]_27329731[PMID]_27550220[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26571461[PMID]_27329731[PMID]_27550220[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
77 annotations · validated 2019-09-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004482 | Relative macrocephaly | |
| Frequent (79-30%) | ||
| HP:0001999 | Abnormal facial shape | |
| HP:0001711 | Abnormal left ventricle morphology | |
| HP:0000739 | Anxiety | |
| HP:0002194 | Delayed gross motor development | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000678 | Dental crowding | |
| HP:0006989 | Dysplastic corpus callosum | |
| HP:0011968 | Feeding difficulties | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002705 | High, narrow palate | |
| HP:0001611 | Hypernasal speech | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002751 | Kyphoscoliosis | |
| HP:0000276 | Long face | |
| HP:0000272 | Malar flattening | |
| HP:0000545 | Myopia | |
| HP:0000446 | Narrow nasal bridge | |
| HP:0000194 | Open mouth | |
| HP:0001763 | Pes planus | |
| HP:0002421 | Poor head control | |
| HP:0002033 | Poor suck | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0000448 | Prominent nose | |
| HP:0100962 | Shyness | |
| HP:0001533 | Slender build | |
| HP:0000486 | Strabismus | |
| HP:0009703 | Synostosis involving the 1st metacarpal | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0030872 | Abnormal cardiac ventricular function | |
| HP:0000718 | Aggressive behavior | |
| HP:0010627 | Anterior pituitary hypoplasia | |
| HP:0001251 | Ataxia | |
| HP:0001631 | Atrial septal defect | |
| HP:0000717 | Autism | |
| HP:0008689 | Bilateral cryptorchidism | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0007099 | Chiari type I malformation | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0007449 | Confetti-like hypopigmented macules | |
| HP:0000028 | Cryptorchidism | |
| HP:0000823 | Delayed puberty | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0010316 | Ebstein anomaly of the tricuspid valve | |
| HP:0000286 | Epicanthus | |
| HP:0001508 | Failure to thrive | |
| HP:0002007 | Frontal bossing | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0001822 | Hallux valgus | |
| HP:0007083 | Hyperactive patellar reflex | |
| HP:0000316 | Hypertelorism | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0032009 | Infantile constant exotropia | |
| HP:0002080 | Intention tremor | |
| HP:0001382 | Joint hypermobility | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0040288 | Nasogastric tube feeding | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001655 | Patent foramen ovale | |
| HP:0001357 | Plagiocephaly | |
| HP:0002465 | Poor speech | |
| HP:0007024 | Pseudobulbar paralysis | |
| HP:0001667 | Right ventricular hypertrophy | |
| HP:0001250 | Seizure | |
| HP:0000322 | Short philtrum | |
| HP:0011098 | Speech apraxia | |
| HP:0002558 | Supernumerary nipple | |
| HP:0004684 | Talipes valgus | |
| HP:0012471 | Thick vermilion border | |
| HP:0002684 | Thickened calvaria | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000325 | Triangular face | |
| HP:0005180 | Tricuspid regurgitation | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000154 | Wide mouth | |
| HP:0000687 | Widely spaced teeth | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 30773818[PMID]_27550220[PMID]_27329731[PMID]_26571461[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/466791
- This record as JSON: /data/d/466791.json