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Bowen-Conradi syndrome
1 OMIM reference -
1 associated gene
11 connected diseases
20 signs/symptoms
Disease Type of connection
Fibronectin glomerulopathy
Autosomal recessive sideroblastic anemia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Omenn syndrome
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
Synonym(s):
- Bowen syndrome, Hutterite type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C537081
Gene symbol UniProt reference OMIM reference
EMG1 Q92979611531
Very frequent
- Autosomal recessive inheritance
- Death in infancy
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long / large / bulbous nose
- Microcephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Restricted joint mobility / joint stiffness / ankylosis
- Short stature / dwarfism / nanism
- Sloping forehead

Frequent
- Camptodactyly of fingers
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Intrauterine growth retardation
- Talipes-varus / metatarsal varus
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Occasional
- Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration
- Cleft lip and palate
- Congenital cardiac anomaly / malformation / cardiopathy
- Dilated cerebral ventricles without hydrocephaly
- Seizures / epilepsy / absences / spasms / status epilepticus