WebDuane syndrome is a congenital eye movement disorder characterized most typically by absence of abduction, restricted adduction, and retraction of the globe on attempted adduction. Duane syndrome can be coinherited with radial ray anomalies as an autosomal dominant trait, referred to as "Okihiro syndrome" or "Duane radial ray syndrome" (DRRS). WebDuane-radial ray syndrome, also known as Okihiro syndrome, is an autosomal dominant disorder characterized by upper limb anomalies, ocular anomalies, and, in some cases, …
Duane-radial ray syndrome - NORD (National Organization for Rare Disorders)
WebMar 10, 2024 · - RADIAL RAY DEFECTS, HEARING IMPAIRMENT, EXTERNAL OPHTHALMOPLEGIA, AND THROMBOCYTOPENIA;; OCULOOTORADIAL SYNDROME Toggle navigation About Statistics Update List Entry Statistics Phenotype-Gene Statistics Downloads Register for Downloads Register for API Access Contact Us MIMmatch WebDuane-radial ray syndrome, also known as Okihiro Syndrome,[1] is a rare autosomal dominant disorder that primarily affects the eyes and causes abnormalities of bones in the arms and hands . This disorder is considered to be a SALL4-related disorder due to the SALL4 gene mutations leading to these abnormalities. porsche heritage certificate
Entry - *607343 - SAL-LIKE 4; SALL4 - OMIM
WebAug 1, 2024 · It was already known that mutations in the gene that produces SALL4 cause two conditions called Duane Radial Ray syndrome and Holt-Oram syndrome. Both conditions can result in birth defects like those seen in babies exposed to thalidomide. WebDuane syndrome is a congenital eye movement disorder characterized most typically by absence of abduction, restricted adduction, and retraction of the globe on attempted … WebOct 22, 2002 · Duane syndrome can be coinherited with radial ray anomalies as an autosomal dominant trait, referred to as “Okihiro syndrome” or “Duane radial ray syndrome” (DRRS). We ascertained three pedigrees with DRRS and mapped their disease gene to a 21.6-cM region of chromosome 20 flanked by markers D20S888 and D20S102. porsche homologation