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GTR Home > Conditions/Phenotypes > Baller-Gerold syndrome

Baller-Gerold syndrome

Synonyms
Craniosynostosis radial aplasia syndrome; Craniosynostosis with radial defects
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Baller-Gerold Syndrome
Baller-Gerold syndrome (BGS) can be suspected at birth in an infant with craniosynostosis and upper limb abnormality. The coronal suture is most commonly affected; the metopic, lambdoid, and sagittal sutures may also be involved alone or in combination. Upper limb abnormality can include a combination of thumb hypo- or aplasia and radial hypo- or aplasia and may be asymmetric. Malformation or absence of carpal or metacarpal bones has also been described. Skin lesions may appear anytime within the first few years after birth, typically beginning with erythema of the face and extremities and evolving into poikiloderma. Slow growth is apparent in infancy with eventual height and length typically at 4 SD below the mean.
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:
Lionel Van Maldergem
Juliette Piard
Lidia Larizza
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Available tests

54 tests are in the database for this condition.

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Clinical tests (54 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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