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GTR Home > Conditions/Phenotypes > Bent bone dysplasia syndrome 1

Bent bone dysplasia syndrome 1

Synonyms
FGFR2-related bent bone dysplasia
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Bent bone dysplasia syndrome-1 (BBDS1) is a perinatal lethal skeletal dysplasia characterized by poor mineralization of the calvarium, craniosynostosis, dysmorphic facial features, prenatal teeth, hypoplastic pubis and clavicles, osteopenia, and bent long bones (Merrill et al., 2012). Genetic Heterogeneity of Bent Bone Dysplasia Syndrome BBDS2 (620076) is caused by mutation in the LAMA5 gene (601033) on chromosome 20q13. [from OMIM]

Available tests

44 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BBDS, BEK, BFR-1, CD332, CEK3, CFD1, ECT1, JWS, K-SAM, KGFR, TK14, TK25, FGFR2
    Summary: fibroblast growth factor receptor 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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