Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Synonyms: Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome | Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome |
| fr | Syndrome de microcéphalie-hypoplasie cérébelleuse-trouble de la conduction cardiaque | |
| de | Mikrozephalie-zerebelläre Hypoplasie-kardiale Reizleitungsstörung-Syndrom | |
| es | Síndrome de microcefalia-hipoplasia cerebelosa-trastorno de la conducción cardíaca | Síndrome de microcefalia-hipoplasia cerebelosa-trastorno de la conducción cardíaca congénita |
| it | Sindrome da microcefalia-ipoplasia cerebellare-difetto della conduzione cardiaca | |
| nl | Microcefalie - hypoplasie van cerebellum - hartgeleidingsstoornis-syndroom | Microcefalie - cerebellaire hypoplasie - congenitale hartgeleidingsstoornis-syndroom |
| pt | Síndrome de microcefalia-hipoplasia cerebelosa-defeito cardíaco de condução | Síndrome de microcefalia-hipoplasia cerebelosa-defeito cardíaco de condução congénito |
| pl | Zespół mikrocefalia-hipoplazja móżdżku-zaburzenia przewodzenia w sercu | Zespół mikrocefalia-hipoplazja móżdżku-wrodzone zaburzenia przewodzenia w sercu |
| cs | Syndrom zahrnující mikrocefalii, hypoplázii mozečku a poruchu srdečního vedení | Syndrom zahrnující mikrocefalii, hypoplázii mozečku a vrozenou poruchu srdečního vedení |
| uk | Синдром мікроцефалії - гіпоплазії мозочка - вади серцевої провідності | Синдром мікроцефалії - гіпоплазії мозочка - вродженої вади серцевої провідності |
| zh | 小头畸形-小脑发育不全-心脏传导缺损综合征 | 小头畸形-小脑发育不全-先天性心脏传导缺陷综合征 |
| tr | Mikrosefali-serebellar hipoplazi-kardiyak iletim bozukluğu sendromu | Mikrosefali-serebellar hipoplazi-doğumsal kalp iletim defekti sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614407 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0013735 | E | validated | |
| UMLS | C3280692 | 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:269528Syndrome with microcephaly as a major feature
rare developmental anomalies during embryogenesis; rare genetic diseases; rare neurological diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 22002884[PMID] | |
| 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/329332
- This record as JSON: /data/d/329332.json