ORPHA:269528
Syndrome with microcephaly as a major feature
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndrome with microcephaly as a major feature | |
| fr | Syndrome avec microcéphalie comme manifestation majeure | |
| de | Syndrom mit Mikrozephalie als Hauptmerkmal | |
| es | Síndrome con microcefalia como característica principal | |
| it | Sindrome con microcefalia come segno cardinale | |
| nl | Syndroom met microcefalie als hoofdkenmerk | |
| pt | Síndrome com microcefalia como característica principal | |
| pl | Zespół z małogłowiem jako głównym objawem | |
| cs | Syndromy s mikrocefalií jako hlavním příznakem | |
| uk | Синдром з мікроцефалією як основною ознакою | |
| zh | 以小头畸形为主要特征的综合征 | |
| tr | Esas klinik özelliği mikrosefali olan sendrom |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-11 | LD20.2 | E | specific | validated |
| MONDO | 17119 | E | validated | |
| UMLS | C5680774 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:729560Forebrain malformation
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:269564Genetic syndrome with a central nervous system malformation as a major feature
rare genetic diseases
Children (37):
- ORPHA:99742Amish lethal microcephaly
- ORPHA:572333Blepharophimosis-ptosis-epicanthus inversus syndrome plus
- ORPHA:1270Bowen-Conradi syndrome
- ORPHA:664923Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
- ORPHA:717854Developmental delay-microcephaly-short stature-ocular disorders-intellectual disability syndrome
- ORPHA:404437Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
- ORPHA:724148Global developmental delay-early-onset refractory epilepsy-spastic quadriplegia-microcephaly-cerebral atrophy syndrome
- ORPHA:697067Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome
- ORPHA:293967Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
- ORPHA:402364Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
- ORPHA:633035Intellectual disability-early-onset cataract-microcephaly syndrome
- ORPHA:313795Jawad syndrome
- ORPHA:439897Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
- ORPHA:2510Micro syndrome
- ORPHA:324761Microcephalic primordial dwarfism
- ORPHA:3433Microcephaly-brachydactyly-kyphoscoliosis syndrome
- ORPHA:2523Microcephaly-brain defect-spasticity-hypernatremia syndrome
- ORPHA:294016Microcephaly-capillary malformation syndrome
- ORPHA:2515Microcephaly-cardiomyopathy syndrome
- ORPHA:329332Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
- ORPHA:2522Microcephaly-cervical spine fusion anomalies syndrome
- ORPHA:2526Microcephaly-chorioretinopathy-lymphedema syndrome
- ORPHA:699844Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome
- ORPHA:662179Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
- ORPHA:2528Microcephaly-microcornea syndrome, Seemanova type
- ORPHA:662762Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
- ORPHA:443162NDE1-related microhydranencephaly
- ORPHA:684240Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome
- ORPHA:434179Orofaciodigital syndrome type 14
- ORPHA:481152PYCR2-related microcephaly-progressive leukoencephalopathy
- ORPHA:306558Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
- ORPHA:391408Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
- ORPHA:477814Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
- ORPHA:1229Pseudo-TORCH syndrome type 1
- ORPHA:659642Rauch-Steindl syndrome
- ORPHA:597743SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
- ORPHA:708166Severe neurodevelopmental disorder-facial dysmorphism-cerebral-renal-cardiac anomalies syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/269528
- This record as JSON: /data/d/269528.json