Fowler syndrome
General Information (adopted from Orphanet):
| Synonyms, Signs: |
HYDRANENCEPHALY, FOWLER TYPE EPV PVHH encephaloclastic proliferative vasculopathy Proliferative vasculopathy and hydranencephaly/hydrocephaly Cerebral proliferative glomeruloid vasculopathy hydrocephaly/hydranencephaly due to cerebral vasculopathy |
| Number of Symptoms | 25 |
| OrphanetNr: | 221126 |
| OMIM Id: |
225790
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic syndrome with a central nervous system malformation as major feature
-Rare genetic disease Other syndrome with a central nervous system malformation as major feature -Rare developmental defect during embryogenesis -Rare neurologic disease |
Symptom Information:
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(HPO:0000347) | Micrognathia | 426 / 7739 | ||||
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(HPO:0001305) | Dandy-Walker malformation | 79 / 7739 | ||||
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(HPO:0001371) | Flexion contracture | 220 / 7739 | ||||
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(HPO:0003869) | Humeral cortical thinning | 3 / 7739 | ||||
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(HPO:0001622) | Premature birth | 100 / 7739 | ||||
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(HPO:0001561) | Polyhydramnios | 191 / 7739 | ||||
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(HPO:0001511) | Intrauterine growth retardation | 358 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0003202) | Skeletal muscle atrophy | 281 / 7739 | ||||
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(HPO:0006882) | Severe hydrocephalus | 2 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Calcifications in white matter, basal ganglia, brainstem, cerebellum, and spinal cord | 1 / 7739 | ||||
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(HPO:0002119) | Ventriculomegaly | 253 / 7739 | ||||
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(HPO:0001321) | Cerebellar hypoplasia | 114 / 7739 | ||||
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(OMIM) | Prenatal diagnosis by ultrasound | 5 / 7739 | ||||
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(OMIM) | Endothelial intracytoplasmic globular inclusions | 1 / 7739 | ||||
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(HPO:0002365) | Hypoplasia of the brainstem | 41 / 7739 | ||||
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(OMIM) | Fetal akinesia deformation sequence | 1 / 7739 | ||||
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(OMIM) | Glomeruloid vascular proliferation in the retina | 1 / 7739 | ||||
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(MedDRA:10053652) | Limb deformity | 2 / 7739 | ||||
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(OMIM) | Glomeruloid vascular proliferation in brain and spinal cord | 1 / 7739 | ||||
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(HPO:0000238) | Hydrocephalus | 278 / 7739 | ||||
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(HPO:0001274) | Agenesis of corpus callosum | 142 / 7739 | ||||
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(OMIM) | Ischemic necrotic lesions | 1 / 7739 | ||||
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(HPO:0002324) | Hydranencephaly | 9 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
The proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome is a rare autosomal recessive prenatally lethal disorder characterized by hydranencephaly, a distinctive glomerular vasculopathy in the central nervous system and retina, and diffuse ischemic lesions of the brain stem, basal ganglia, ... |
| Clinical Description OMIM |
In identical male twins, Moeschler and Marin-Padilla (1989) described a disorder that had been reported in 5 sibs by Fowler et al. (1972) and in 2 sibs by Harper and Hockey (1983). Of the sibs reported by Harper ... |
| Molecular genetics OMIM |
By candidate gene sequencing, Meyer et al. (2010) identified a homozygous mutation in the FLVCR2 gene (T430R; 610865.0001) in 5 fetuses with PVHH from 3 consanguineous Pakistani families. Two additional fetuses of Northern European origin with the disorder ... |