Ruvalcaba syndrome

Definition

Ruvalcaba syndrome is an extremely rare malformation syndrome, described in less than 10 patients to date, characterized by microcephaly with characteristic facies (downslanting parpebral fissure, 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.

NIH genetic and rare disease info

NIH info on Ruvalcaba syndrome

Ruvalcaba syndrome is a rare disease.

Resources

Frequently asked questions

This Ruvalcaba syndrome article is a stub. You can help WikiMD by expanding it.

‎

Navigation: Wellness - Encyclopedia - Health topics - Disease Index‏‎ - Drugs - World Directory - Gray's Anatomy - Keto diet - Recipes

Search WikiMD

Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro) available.
Advertise on WikiMD

WikiMD is not a substitute for professional medical advice. See full disclaimer.

Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.

v t e Rare and genetic diseases
Rare diseases - Ruvalcaba syndrome
A-Z list of rare diseases	0-9 \| A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
Also see	Comprehensive list of genetic and rare diseases
Resources	NIH GARD, US Genetic and Rare Diseases Info Rare Disease Day Undiagnosed Diseases Network Database of rare diseases at Orphanet Rare Disease UK Rare diseases search engine

v t e Additional resources
Ruvalcaba syndrome
Videos	[https://www.youtube.com/Error:No page id specified ] on YouTube
About WikiMD	WikiMD is the world's largest, free medical and wellness encyclopedia with a focus on patient education.