Bowen-Conradi syndrome
Findings
No curated finding names Bowen-Conradi syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Bowen-Conradi syndrome (BCS) is a lethal autosomal recessive ribosomal biogenesis disorder characterized by severe prenatal and postnatal growth retardation, microcephaly, a distinctive facial appearance, extreme psychomotor delay, hip and knee contractures and rockerbottom feet.
Definition from the Mondo Disease Ontology (MONDO:0008879), read 2026-09-29. CC BY 4.0.
- Onset and course
- Death in infancy
HPO, annotations 2026-09-02
Features
19 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Prominent noseHPOHP:0000448
- Very frequent (80% to 99% of cases)
- Severe global developmental delayHPOHP:0011344
- Very frequent (80% to 99% of cases)
Show the remaining 7
- Rocker bottom footHPOHP:0001838
- Frequent (30% to 79% of cases)
- Severe intrauterine growth retardationHPOHP:0008846
- Frequent (30% to 79% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Occasional (5% to 29% of cases)
- Abnormal lung lobationHPOHP:0002101
- Occasional (5% to 29% of cases)
- Orofacial cleftHPOHP:0000202
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EMG1HGNC:16912
- Strong · ClinGen · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2017
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
6 names
Resolves to: Bowen-Conradi syndrome
- Also called
- Bowen Hutterite SyndromeBowen Hutterite syndrome (formerly)Bowen Hutterite syndrome, formerlyBowen syndrome, Hutterite typeBowen-Conradi Hutterite syndromeBWCNS