Arthrogryposis-ectodermal dysplasia-other anomalies (AEDO) syndrome is a very rare genetic condition reported in the medical literature as a combination of (1) ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Oculomelic amyoplasia is an ultra-rare, inherited condition where a baby is born with tight joints in the arms and legs (called arthrogryposis) plus ...
Distal arthrogryposis with ophthalmoplegia is a genetic condition where a baby is born with tight joints mainly in the hands and feet (contractures), together ...
Distal arthrogryposis type 5 (DA5) is a rare, genetic condition that causes congenital joint contractures (stiff joints present at birth) that mostly affect ...
Arthrogryposis–oculomotor limitation–electroretinal anomalies syndrome (AOLEAS) is a very rare, inherited condition. Children are born with joint contractures ...
Illum syndrome is an extremely rare condition present at birth. Babies have many stiff joints (contractures), a very small, tight mouth that looks like a ...
Freeman–Sheldon syndrome is a rare, congenital condition marked by tight muscles and tendons (contractures) that mainly affect the face, hands, and feet. ...
Arthrogryposis Multiplex Congenita—Whistling Face Syndrome is a rare, present-from-birth condition that affects the way muscles, joints, head, and face ...
Arthrogryposis multiplex congenita (AMC) describes babies born with stiff joints (contractures) in at least two different body areas because the baby did not ...
Myelodysplasia are disorders of the bone marrow—the soft “factory” inside bones that makes blood cells. In MDS, early blood-forming stem cells acquire DNA ...
Multiple congenital arthrogryposis is an umbrella term for conditions where a baby is born with stiff joints (contractures) in two or more body areas. The ...
“Congenital arthromyodysplasia” is an old medical label that appeared in mid-20th-century rheumatology papers. It described babies born with stiff, bent joints ...
Arthromyodysplasia congenita is an older name that doctors used in the 1950s for a condition seen at birth in which several joints are stuck or very stiff and ...
Arthrogryposis Multiplex Congenita (AMC) is a group of rare conditions where a baby is born with stiff joints (contractures) in two or more body areas. ...
Arthrogryposis means a baby is born with joints that are stiff and cannot move well because they are stuck in a bent or straight position. Doctors call these ...
Congenital muscular dystrophy producing arthrogryposis describes babies born with a primary muscle disease (congenital muscular dystrophy, CMD) who also have ...
Arthrogryposis means a baby is born with more than one stiff joint (a “contracture”) that can’t move through a normal range. When the root cause of those ...
Intracranial haemorrhage from cerebrovascular malformations means bleeding inside the skull that starts when an abnormal cluster of brain blood vessels leaks ...
An intracranial arteriovenous malformation—often shortened to brain AVM—is an abnormal tangle of blood vessels inside the brain. In a normal brain, blood flows ...
A cerebral arteriovenous malformation—often called a brain AVM—is an abnormal knot (tangle) of blood vessels inside the brain. In a normal brain, blood flows ...
