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| Disease found: | Achondroplasia |
| Current as of: | October 8, 2024 |
| Disease Overview: | Skeletal dysplasia caused by a change in the fibroblast growth factor receptor 3 (FGFR3) [more info] |
| Signs and Symptoms: | General features include short stature, macrocephaly with frontal bossing and depressed nasal bridge, spinal curvature, and hands in a "trident" position; in infancy, characteristics include a large cranium, broad forehead, midface hypoplasia, mildly narrower chest, and short extremities. [more info] |
| Diagnosis: | Clinical assessment of physical features, radiographic examination, genetic testing possible [more info] |
| Treatment: | Primarily supportive; Vosoritide, a C-type natriuretic peptide (CNP) analog, can be used to increase height in open epiphyses in children 5+; alternative therapies under development [more info] |
| Clinical Management: | Symptom specific recommendations [more info] |
| Referral: | Accessible via patient organizations [more info]; skeletal dysplasia clinics [more info]. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | 5 in progress, 2 recruiting at UCSF [more info]; BioMarin actively recruiting [more info]; QED therapeutics actively recruiting [more info]; Vosoritide |