Camptobrachydactyly is a very rare condition in which people have short fingers or toes (brachydactyly) together with fixed bending (flexion contractures) of ...

Familial doughnut lesions of the skull are round, ring-like spots in the skull bones that look like a “doughnut” on X-rays. Many affected people also have weak ...

Doughnut lesion of the calvaria and bone fragility syndrome is a rare, inherited bone disease. It causes ring-shaped, sclerotic spots in the skull bones that ...

Calvarial doughnut lesions–bone fragility syndrome is a rare, inherited bone disease. Bones break easily from childhood. The skull shows small round ...

Synostosis means two bones that should be separate have become joined by solid bone. This makes the joint between them disappear, so the bones act like one. ...

A calcaneonavicular coalition is an abnormal bridge between two foot bones: the calcaneus (heel bone) and the navicular (a small bone in the midfoot). In most ...

Osteopoikilosis is a rare, mostly harmless bone condition where many tiny “bone islands” grow inside different bones. Doctors see these as small, round or oval ...

Bruck syndrome 2 is a very rare genetic condition that combines two big problems: (1) bones that break easily (like osteogenesis imperfecta) and (2) tight ...

Osteogenesis imperfecta-congenital joint contractures syndrome combines the bone fragility of osteogenesis imperfecta with congenital (from birth) joint ...

Osteogenesis imperfecta with congenital joint contractures is a very rare, inherited bone and connective-tissue disorder in which a baby is born with stiff ...

Brachyrachia means an abnormally short spine. In this condition, the bones of the spine (the vertebrae) are short and flattened, so the whole trunk looks short ...

Brachyolmia, Maroteaux type—also called brachyolmia type 2 (BCYM2)—is a rare, inherited bone disorder. It mainly affects the spine. Children typically look ...

Brachyrachia means a short spine. Doctors also call it short spine dysplasia. It is a rare genetic bone condition where the bones of the spine (the vertebrae) ...

Brachyolmia is a rare group of genetic bone conditions where the spine’s vertebral bodies are flatter than normal (a finding called platyspondyly). People ...

Brachydactyly type A1 (BDA1) is a rare, inherited difference in hand and foot development in which the middle bones (middle phalanges) of most or all fingers ...

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 ...