Perinatal lethal bent bone dysplasia is a very rare genetic bone disorder. It affects a baby before birth. The bones do not form in a normal way. The long ...

Bent bone dysplasia syndrome 1 (BBDS1) is a very rare, usually lethal skeletal (bone) disorder that begins before birth. It is caused by disease-causing ...

Baló concentric sclerosis (BCS) is a very rare demyelinating disease. “Demyelinating” means the immune system strips the protective myelin coating from nerve ...

Axial spondylometaphyseal dysplasia is a very rare genetic bone growth disorder. “Axial” means the center line of the body (spine, ribs, pelvis, and nearby ...

Axial osteomalacia is an exceptionally rare bone disorder where the axial skeleton (spine, ribs, pelvis) develops a dense, coarse, sponge-like trabecular ...

Spondylodysplastic dysplasia due to PAM16 is a very rare genetic bone disorder. It affects the spine (“spondylo-”), the ends of long bones near the joints ...

Spondyloepimetaphyseal dysplasia, Irapa type is a very rare inherited bone-growth disorder. It mainly affects the spine (spondylo-), the ends of bones ...

Spondylothoracic dysostosis (STD) is a rare condition present from birth. It mainly affects the bones of the spine and the ribs. The vertebrae do not form and ...

Jarcho-Levin syndrome is a genetic (inherited) condition that starts in early embryo life. The “body clock” that times the making of spinal segments does not ...

Osteoclast-poor osteopetrosis is a very rare, inherited bone disease. In this condition, the body cannot make enough working osteoclasts. Osteoclasts are the ...

Introduction Gallbladder cancer is a rare but serious disease that develops when cancerous (malignant) cells form in the tissues of the gallbladder a small ...

    Introduction Liver cancer is one of the most challenging cancers worldwide, known for its aggressive nature and often late diagnosis. ...

Hypophosphatemic rickets is a bone disease where the body loses too much phosphate in the urine. Phosphate is a mineral your bones need to harden and stay ...

Autosomal recessive hypophosphatemic bone disease is a group of rare genetic conditions where both copies of a key gene are altered (one from each parent). ...

Geroderma osteodysplasticum (GO) is a rare, inherited condition that makes the skin loose and wrinkled and the bones fragile. Children are usually born looking ...

Cutis laxa with bone dystrophy is a rare connective-tissue disorder in which the skin is loose, saggy, and less elastic because elastic fibers and related ...

Spondylocostal dysostosis (SCDO) is a rare birth condition where the bones of the spine (vertebrae) and ribs do not form and separate normally before birth. ...

Osteosclerosis fragilis is an old, Latinized name that physicians used for a condition in which bones look very dense (sclerotic) but are paradoxically ...

Spondylolysis means there is a small break (a “stress fracture”) or a thinning/defect in a narrow bridge of bone at the back of a vertebra called the pars ...

Aneurysm-osteoarthritis syndrome is a rare, inherited connective-tissue disorder. It mainly causes bulging (aneurysms), stretching (tortuosity), or tearing ...