Rhizomelic shortness with clavicular defect is an extremely rare genetic bone condition. It mainly affects the upper parts of the arms and the collarbones ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Chondroectodermal dysplasia with night blindness is a very rare genetic disease. It mainly affects how bones grow and how “ectodermal” tissues, such as nails ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Chondrodysplasia with disorder of sex development syndrome is a very rare genetic condition that affects both the bones and the way the sex organs and sex ...
Chondrodysplasia-pseudohermaphroditism syndrome is an extremely rare genetic condition that affects bone growth, brain development, and sex development at the ...
Chondrodysplasia with joint dislocations, gPAPP type, is a very rare genetic bone disease. Babies are usually born with short arms and legs, loose joints, and ...
Chondrodysplasia punctata, Toriello type is a very rare inherited bone growth disorder. It mainly affects the ends of the bones near the joints, where small ...
Chondrodysplasia punctata, tibial-metacarpal type, is a very rare birth bone condition. It mainly affects the small bones of the hands and the shin bone ...
Chondrodysplasia punctata 2, X-linked dominant (often written as CDPX2) is a rare genetic disease that mainly affects bones, skin, and eyes. In this condition, ...
Chondrodysplasia punctata with stippled epiphyses is a name for a group of rare bone growth disorders, not just one single disease. In all of them, small ...
Dr. Harun Ar Rashid, MD - Arthritis, Bones, Joints Pain, Trauma, and Internal Medicine Specialist
Chondrodysplasia calcificans congenita is a very rare genetic bone growth disorder that belongs to the broader group called chondrodysplasia punctata. In this ...
Chondrodysplasia punctata (CDP) is a group of very rare bone growth disorders that start before birth. In this condition, areas of cartilage (the soft “model” ...
Chondrodysplasia calcificans metaphysealis is a very rare genetic bone disease. It belongs to a group of bone growth problems called metaphyseal ...
Chondrodysplasia Blomstrand type (also called Blomstrand lethal chondrodysplasia, Blomstrand osteochondrodysplasia, BOCD) is a very rare genetic bone growth ...
Familial articular chondrocalcinosis is a rare inherited joint disease in which tiny crystals of calcium pyrophosphate dihydrate (CPPD) slowly build up in the ...
Chondrocalcinosis means “calcium in the cartilage.” In this condition, very tiny crystals made from a salt called calcium pyrophosphate build up inside the ...
Syndactyly type 7 is a rare birth condition where some fingers (and sometimes toes) are joined together, often in a complex way (skin + soft tissue + sometimes ...
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 ...
Camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia describes a rare, congenital (present at birth) combination of problems: a progressive ...
