Ruvalcaba syndrome

Get in touch with RARE Concierge.

Contact RARE Concierge

Ruvalcaba syndrome

Ruvalcaba syndrome is an extremely rare malformation syndrome described in less than 10 patients to date characterized by microcephaly with characteristic facies (downslanting parpebral fissures microstomia beaked nose narrow maxilla) very short stature narrow thoracic cage with pectus carinatum hypoplastic genitalia and skeletal anomalies (i.e. characteristic brachydactyly and osteochondritis of the spine) as well as intellectual and developmental delay.

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 September 2023.

Newly diagnosed with
Ruvalcaba 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

Advocacy Organizations

Clinical Trials

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