You are using an outdated browser. Please upgrade your browser to improve your experience.
This repository is under review for potential modification in compliance with Administration directives.
velo-facial-skeletal syndrome
Disease Summary
Associated Targets ()
Mondo Description Velo-facial-skeletal syndrome is 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.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
GARD:0005469
MESH:C536536
OMIM:600736
Orphanet:3424
SCTID:763616002
UMLS:C1833380
MONDO:0010925
High level summary of knowledge for a disease, including descriptions and datasource references. Click the "?" for more details.