Asherman syndrome means bands of scar tissue grow inside the uterus (womb) and sometimes the cervix after an injury or infection. These sticky bands are called ...
Dr. Priya Kishnani, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Blepharochalasis is a rare eyelid condition where the eyelids swell from time to time without pain. These “attacks” usually start in childhood or the teen ...
Ascher syndrome is a very rare, benign condition. It is best known for a “triad” of three findings: repeated swelling and loosening of the upper eyelids ...
Pneumoconiosis from asbestos dust is long-term scarring of the lungs caused by breathing in asbestos fibers at work or in the environment. The tiny fibers ...
Asbestos dust pneumoconiosis, commonly called asbestosis, is a long-term (chronic) lung disease caused by breathing in tiny asbestos fibers at work or during ...
Asbestosis is a long-term scarring of the lungs caused by breathing in tiny asbestos fibers over many years, usually at work (for example, in construction, ...
Syndromic X-linked intellectual disability Arts type is a rare genetic disorder that mostly affects boys and causes serious problems with the brain and nerves ...
Lethal ataxia with deafness and optic atrophy (Arts syndrome) is a rare, inherited metabolic–neurologic disease. Babies—usually boys—develop weak muscle tone, ...
Fatal X-linked ataxia with deafness and loss of vision is a rare inherited disease that affects how cells make purines and pyrimidines—the basic “building ...
Arts syndrome is a rare, inherited condition that mainly affects boys. It causes weak muscles from early life, unsteady movement (ataxia), severe hearing loss, ...
Arthrogryposis-severe scoliosis syndrome is a rare, inherited condition in which a baby is born with stiff, contracted joints in the arms and legs ...
Arthrogryposis–renal dysfunction–cholestasis (ARC) syndrome is a very rare, inherited (autosomal recessive) condition that starts at birth. The classic triad ...
Arthrogryposis-Renal Dysfunction-Cholestasis (ARC) syndrome is a very rare genetic condition that affects many organs from birth. The three main signs are ...
Kuskokwim disease is a very rare, inherited condition in which children are born with joint contractures—joints that are stiff and cannot fully straighten or ...
Arthrogryposis-like syndrome means a baby or child has stiff, fixed joints in more than one body area at birth, and the overall picture resembles ...
Distal arthrogryposis type 6 (DA6) is a very rare genetic condition where babies are born with stiff joints in the hands and feet (contractures) and ...
Arthrogryposis-like hand anomaly–sensorineural deafness syndrome is a very rare genetic condition in which a person is born with hand deformities that look ...
Johnston-Aarons-Schelley syndrome is the name used for a single recessive genetic syndrome first described in a 1993 medical report. Babies had three main ...
Arthrogryposis–hyperkeratosis syndrome is an extremely rare genetic condition seen at birth. Babies are born with many stiff joints (called arthrogryposis) ...
Stoll–Alembik–Finck syndrome is a very rare genetic condition present from birth. Children have arthrogryposis (stiff joints and contractures in many body ...
