Asherson’s Syndrome
Asherson’s syndrome is another name for catastrophic antiphospholipid syndrome (CAPS). It is a very rare, extreme and fast-moving form of antiphospholipid syndrome (APS), an autoimmune disease where ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Crome Syndrome
Crome syndrome is an extremely rare and very severe genetic syndrome that affects the eyes, brain, and kidneys of a newborn baby. It is also called cataract-nephropathy-encephalopathy syndrome. ...
Congenital Cataract Nephropathy Encephalopathy Syndrome
Congenital cataract, nephropathy, encephalopathy syndrome (often called Crome syndrome) is an extremely rare genetic disease in which a baby is born with three major problems at the same time: ...
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract-nephropathy-encephalopathy syndrome is an extremely rare, life-threatening genetic disorder that affects the eyes, kidneys, and brain of a very young baby. It is usually present at birth or ...
Congenital Cataract with Hypertrichosis and Intellectual Disability Syndrome
Congenital cataract with hypertrichosis and intellectual disability syndrome is an extremely rare genetic condition in which a baby is born with cloudy lenses in both eyes (congenital cataracts), ...
CAHMR Syndrome (Cataract, Hypertrichosis, Mental Retardation)
CAHMR Syndrome (cataract, hypertrichosis, mental retardation) syndrome is an ultra-rare genetic condition. Children are born with cataracts in both eyes, very thick or excessive hair on the body ...
Cataract-Hypertrichosis-Intellectual Disability Syndrome
Cataract-hypertrichosis-intellectual disability syndrome is an extremely rare genetic condition in which a child is born with cloudy lenses in the eyes (congenital cataracts), excessive body hair ...
CAGSSS Disease
CAGSSS disease is a very rare genetic condition that affects many parts of the body, especially the eyes, growth, nerves, ears, and bones. The name “CAGSSS” comes from its main features: Cataracts, ...
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome is a very rare inherited condition that affects many parts of the body at the same time. ...
Cataract-Glaucoma Syndrome
Cataract-glaucoma syndrome is a rare inherited eye disorder where a baby is born with dense cataracts in both eyes, and then develops secondary glaucoma later in childhood or young adult life (often ...
Schaap-Taylor-Baraitser Syndrome
Schaap-Taylor-Baraitser syndrome is the name first given to a very rare genetic condition now usually called cataract-deafness-hypogonadism syndrome. It was described in 1995 in three brothers who ...
Cataract-Deafness-Hypogonadism Syndrome
Cataract-deafness-hypogonadism syndrome is an extremely rare genetic disorder in which a child is born with three main problems together: clouding of the eye lens (congenital cataract), inner ear ...
Wellesley-Carman-French Syndrome
Wellesley-Carman-French syndrome, also called cataract-aberrant oral frenula-growth delay syndrome, is an extremely rare genetic condition. It is mainly described in a single family with a mother and ...
Cataract Aberrant Oral Frenula-Growth Delay Syndrome
Cataract-aberrant oral frenula-growth delay syndrome is an extremely rare inherited condition in which a child has cataracts (cloudy lenses in the eyes), many abnormal small folds of tissue in the ...
Congenital Cataract 8 Volkmann Types
Congenital Cataract 8 Volkmann Types means the clear lens inside the eye is cloudy at birth or soon after birth. This cloud stops light from reaching the retina and can cause permanent vision loss if ...
Cataract 8 Multiple Types
A Cataract 8 multiple types is a disease where the clear natural lens inside your eye becomes cloudy, like a foggy or dirty window. This clouding blocks light from passing clearly to the retina (the ...
Juvenile Cataract Hutterite Type
Juvenile cataract Hutterite type is a rare inherited eye disease in which children or teenagers develop cloudy lenses (cataracts) in both eyes because of a change (mutation) in a gene called LEMD2. ...
Early-Onset Non-Syndromic Cataract Caused by Mutation in LEMD2
Early-onset non-syndromic cataract caused by mutation in LEMD2 is a rare inherited eye disease where the clear lens inside the eye becomes cloudy in childhood or teenage years because of a spelling ...
Autosomal Recessive Cataract 46
Autosomal recessive cataract 46 (often written as “cataract 46, juvenile-onset”) is a rare inherited eye disease where the clear lens of the eye becomes cloudy (cataract) in childhood or early adult ...
Cataract 46, Juvenile-Onset, With or Without Arrhythmic Cardiomyopathy
Cataract 46, juvenile-onset, with or without arrhythmic cardiomyopathy is a very rare inherited eye and heart condition. It mainly causes early cataracts in children or teenagers and sometimes ...
