Orofaciodigital syndrome 11
Other Names: OFD11; Orofaciodigital syndrome XI; Oral-facial-digital syndrome type 11; Oral-facial-digital syndrome with skeletal anomalies; Gabrielli syndrome; OFD syndrome 11; OFDS 11; Oral facial digital syndrome 11; Oral facial digital syndrome type 11
Orofaciodigital syndrome type 11 is an extremely rare, sporadic form of Orofaciodigital syndrome (OFDS; see this term) with only a few reported cases, and characterized by facial (blepharophimosis, bulbous nasal tip, broad nasal bridge, downslanting palpebral fissures and low set ears) and skeletal (post-axial polydactyly and fusion of vertebrae) malformations along with severe intellectual disability, deafness and congenital heart defects.
NIH genetic and rare disease info[edit source]
Orofaciodigital syndrome 11 is a rare disease.
Orofaciodigital syndrome 11 Resources | ||
---|---|---|
|
|
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 / Zepbound) 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.Contributors: Deepika vegiraju