Canavan disease is a rare, inherited brain disorder. It belongs to a group of white-matter diseases called leukodystrophies. In Canavan disease, a gene problem ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Camptomelic syndrome, long-limb type is a rare genetic condition that changes how the skeleton, airway, and some other organs form before birth. The classic ...
Rozin Camptodactyly Syndrome is an extremely rare, multi-system birth condition. Children are born with camptodactyly (fingers stuck in a bent position), other ...
Camptodactyly-joint contractures-facial skeletal defects syndrome is a very rare, congenital (present at birth) syndrome. Children have bent fingers that ...
Camptodactyly, myopia, and fibrosis of the medial rectus muscle of the eye is a very rare congenital (present at birth) syndrome. People who have it usually ...
Familial streblodactyly with amino-aciduria is a very rare genetic condition that tends to run in families. The finger joints—usually the little fingers—bend ...
Camptodactyly–taurinuria syndrome is a very rare, inherited condition that has two main features seen together in the same person: a permanent bend in ...
Camptodactyly-Tall Stature-Scoliosis-Deafness Syndrome (CATSHL syndrome) is a very rare genetic condition in which four main features tend to occur together: ...
Camptodactyly–Tall Stature–Scoliosis–Hearing Loss syndrome is a very rare genetic condition. People with this syndrome usually have four main features: (1) ...
Arthropathy-camptodactyly (CACP) syndrome is a rare inherited condition where children are born with or soon develop bent fingers (camptodactyly), large ...
Camptodactyly-Arthropathy-Coxa Vara-Pericarditis (CACP) syndrome is a rare genetic condition that begins in childhood and combines four main problems: bent ...
Goodman camptodactyly is a very rare genetic syndrome in which people have bent fingers (camptodactyly) together with other body features, such as special ...
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia describes a rare, congenital (present at birth) combination of problems: a progressive ...
Camptodactyly means a finger (usually the little finger) is stuck in a bent position at the middle (PIP) joint from birth or early childhood. In “camptodactyly ...
Camptodactyly syndrome, Guadalajara type 3 is a very rare genetic disorder in which the fingers are bent and cannot fully straighten (camptodactyly), together ...
Camptodactyly syndrome, Guadalajara type 2 is a very rare condition present at birth. Children are small for age, both before and after birth. They often have ...
Camptodactyly syndrome, Guadalajara type 1 (often shortened to “Guadalajara type 1”) is a very rare, inherited condition in which a child is born with fingers ...
Camptodactyly means a finger that stays bent at the middle joint (the proximal interphalangeal, or PIP joint) and cannot fully straighten on its own. It is ...
Camptobrachydactyly is a very rare condition in which people have short fingers or toes (brachydactyly) together with fixed bending (flexion contractures) of ...
Campomelic dwarfism syndrome is a rare genetic condition that mainly affects the skeleton, breathing system, and sexual development. The word “campomelic” ...
