Bonnemann-Meinecke-Reich syndrome
historical
Synonyms: Encephalopathy-intracerebral calcification-retinal degeneration syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- historical
Bonnemann-Meinecke-Reich syndrome is a syndrome of multiple congenital anomalies characterized by an encephalopathy which predominantly occurs in the first year of life and presenting as psychomotor delay. Additional features of the disease include moderate dysmorphia, craniosynostosis, dwarfism (due to growth hormone deficiency), intellectual disability, spasticity, ataxia, retinal degeneration, and adrenal and uterine hypoplasia. The disease has been described in only two families, with each family having two affected siblings. An autosomal recessive inheritance has been suggested. There have been no further descriptions in the literature since 1991.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Bonnemann-Meinecke-Reich syndrome | Encephalopathy-intracerebral calcification-retinal degeneration syndrome |
| fr | Syndrome de Bonnemann-Meinecke-Reich | Syndrome d'encéphalopathie-calcification intracérébrale-dégénérescence rétinienne |
| de | Bonneman-Meinecke-Reich-Syndrom | Enzephalopathie mit intrazerebraler Kalzifikation und Retinadegeneration |
| es | Síndrome de Bonneman-Meinecke-Reich | Encefalopatía-calcificación intracerebral-degeneración retiniana |
| it | Sindrome di Bonnemann-Meinecke-Reich | Encefalopatia - calcificazione intracerebrale - degenerazione retinica |
| nl | Syndroom van Bonnemann-Meinecke-Reich | Encefalopathie - intracerebrale calcificatie - retinale degeneratie-syndroom |
| pt | Síndrome Bonneman-Meinecke-Reich | |
| pl | Zespół Bonnemanna, Meinecke i Reicha | Encefalopatia - zwapnienia wewnątrzczaszkowe - degeneracja siatkówki |
| cs | Bonnemannův-Meineckeho-Reichův syndrom | Syndrom zahrnující encefalopatii, intracerebrální kalcifikaci a retinální degeneraci · Bonnemann-Meinecke-Reichův syndrom |
| uk | Синдром Боннемана-Мейнеке-Райха | Синдром енцефалопатії - внутрішньомозкової кальцифікації - дегенерація сітківки |
| zh | Bonnemann-Meinecke-Reich综合征 | 脑病-脑内钙化-视网膜变性综合征 |
| tr | Bonnemann-Meinecke-Reich sendromu | Ensefalopati-intraserebral kalsifikasyon-retina dejenerasyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 225755 | E | validated | |
| ICD-10 | Q04.8 | NTBT | attributed | validated |
| MONDO | 0009167 | E | validated | |
| UMLS | C4518560 | E | validated | |
| GARD | 2113 | 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
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 | 2654691[PMID]_1941968[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_2654691[PMID]_1941968[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
11 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0002514 | Cerebral calcification | |
| HP:0000824 | Decreased response to growth hormone stimulation test | |
| HP:0000268 | Dolichocephaly | |
| HP:0002353 | EEG abnormality | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000252 | Microcephaly | |
| HP:0004322 | Short stature | |
| HP:0001257 | Spasticity | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0000347 | Micrognathia | |
| HP:0000505 | Visual impairment | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1261
- This record as JSON: /data/d/1261.json