Velo-facial-skeletal syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

A very rare multiple congenital anomalies syndrome characterized by short stature facial dysmorphism (elongated face hypertelorism broad and high nasal bridge mild epicanthus posteriorly angulated ears narrow and high-arched palate) skeletal anomalies (mesomelic brachymelia short broad hands prominent finger pads short stubby thumbs hyperextensibility of small joints small feet) hypernasality and normal intelligence. Delayed bone age has also been reported.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview. Reference: Access aggregated data from Orphanet at Orphadata. Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version July 2024

Newly diagnosed with
Velo-facial-skeletal syndrome?

Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.

Get Concierge Help

Clinical Trials

For a list of clinical trials in this disease area, please click here.