The skeletal dysplasias are a group of more than 450 heritable disorders of bone. For improved clinical care it is important to determine a precise diagnosis to aid in management, familial recurrence and identify those disorders highly associated with mortality.
Achondroplasia is by far the most common form of non-lethal skeletal dysplasia. This group of disorders all result from heterozygosity for activation mutations in the gene that encodes Fibroblast Growth Factor Receptor 3 (FGFR3). This group of disorders includes thanatophoric dysplasia, achondroplasia, hypochondroplasia and the very rare severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN).
Craniosynostosis is the premature fusion of calvarial bones leading to an abnormal head shape. The birth prevalence of craniosynostosis is approximately 1 in 3000 live births. Common craniosynostosis syndromes where FGFR2 or FGFR3 gene variants are implicated include Apert and Muenke syndromes. Muenke craniosynostosis, caused by FGFR3 P250R, represents the most common human transversion known.
Please note we currently perform targeted sequencing of the FGFR2 and FGFR3 genes only. For all other craniosynostoses or when the potential diagnosis is not specified, referrals will be sent away for a panel test which includes EFNB1, ERF, FGFR1, FGFR2, FGFR3, TCF12 and TWIST1.
Genetics - Molecular Pathology
MOLP
Achondroplasia
Hypochodroplasia
Thanatophoric dysplasia
Muenke syndrome
Crouzon Syndrome with acanthosis nigricans
4 weeks
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