Brachydactylous dwarfism, Mseleni type, is a very rare bone and joint disorder. “Brachydactylous” means the fingers and toes are short. “Dwarfism” means the ...

Bone Fragility-Contractures-Arterial Rupture-Deafness (BCARD) Syndrome is a very rare, inherited connective-tissue disease. It happens when both copies of the ...

Bone abnormalities is a problem with how bones are built, shaped, or strengthened. The problem can be present from birth (genetic) or can happen later. Bones ...

Bone fragility with contractures, arterial rupture, and deafness (BCARD) is a rare, inherited connective-tissue disorder. The body’s collagen—the protein that ...

Bone dysplasia, lethal Holmgren type is a very rare, inherited disorder that affects how a baby’s bones grow before birth. The main problems are very short ...

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 ...