Stromme syndrome
Findings
No curated finding names Stromme syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive congenital disorder affecting multiple systems with features of a ciliopathy. Affected individuals typically have some type of intestinal atresia, variable ocular abnormalities, microcephaly, and sometimes involvement of other systems, including renal and cardiac. In some cases, the condition is lethal in early life, whereas other patients show normal survival with or without mild cognitive impairment (summary by Filges et al., 2016).
Definition from the Mondo Disease Ontology (MONDO:0009477), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Stillbirth
HPO, annotations 2026-09-02
Features
5 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.
- Agenesis of corpus callosumHPOHP:0001274
- Bilateral renal hypoplasiaHPOHP:0012584
- Cerebellar vermis hypoplasiaHPOHP:0001320
- Cleft palateHPOHP:0000175
- Duodenal atresiaHPOHP:0002247
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.
- CENPFHGNC:1857
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Illumina · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · G2P · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
8 names
Resolves to: Stromme syndrome
- Also called
- apple peel syndrome with microcephaly and ocular anomaliesapple-peel intestinal atresia-ocular anomalies-microcephaly syndromeCILD31ciliary dyskinesia, primary, type 31jejunal atresia with microcephaly and ocular anomaliesjejunal atresia-microcephaly-ocular anomalies syndromelethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndromelethal foetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome