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Stromme syndrome

Synonyms
APPLE PEEL SYNDROME WITH MICROCEPHALY AND OCULAR ANOMALIES; Ciliary dyskinesia, primary, 31

Summary

Excerpted from the GeneReview: Strømme Syndrome
Strømme syndrome is a clinically variable disorder characterized primarily by small bowel intestinal atresia (including apple peel intestinal atresia), microcephaly, developmental delay and/or intellectual disability, structural brain anomalies, and ocular, genitourinary, and cardiac anomalies. A highly variable clinical presentation is observed among affected individuals that may range from mid-gestation lethality, to multisystem involvement with features implicated in the ciliopathies, to nonsyndromic microcephaly with developmental delay. Apple peel intestinal atresia, a rare form of small bowel atresia involving the proximal jejunum near the ligament of Treitz, occurs in some individuals. Intestinal atresia in individuals with Strømme syndrome can involve the duodenum, jejunum, or multiple segments.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Stephanie KL Ho
Lai Ting Leung
Ho-ming Luk
view full author information

Available tests

24 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (24 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CENF, CILD31, PRO1779, STROMS, hcp-1, CENPF
    Summary: centromere protein F

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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