Collagenopathy, types II and XI
... The type II and XI collagenopathies are a group of disorders that affect connective tissue, the tissue that supports the body's joints and organs. These disorders are caused by defects in type II ...

Thanatophoric dysplasia
... Thanatophoric dysplasia is a severe inherited skeletal disorder characterized by extremely short limbs and folds of extra skin on the arms and legs. Genetic changes are related to the following types ...

Achondrogenesis, type 2
... Achondrogenesis, type 2 is a severe, inherited disorder of bone growth. The disorder is characterized by a short body and limbs and a lack of bone formation in the spine and pelvis. Achondrogenesis, t...

Achondroplasia
... Achondroplasia is an inherited disorder of bone growth. Although achondroplasia literally means "without cartilage formation," in this disorder the problem is not in forming cartilage but in convertin...

Hypochondrogenesis
... Hypochondrogenesis is a severe, inherited disorder of bone growth. This condition is characterized by a short body and limbs and abnormal bone formation in the spine and pelvis. Hypochondrogenesis is ...

Hypochondroplasia
... Hypochondroplasia is a form of short-limbed dwarfism. This condition affects the conversion of cartilage into bone (a process called ossification), particularly in the long bones of the arms and legs....

Kniest dysplasia
... Kniest dysplasia is an inherited disorder of bone growth. The condition is characterized by short stature (dwarfism), enlarged joints and other skeletal abnormalities, and problems with vision and hea...

SADDAN
... SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare inherited disorder of bone growth characterized by skeletal, brain, and skin abnormalities. All people with t...

Spondyloepimetaphyseal dysplasia, Strudwick type
... Spondyloepimetaphyseal dysplasia, Strudwick type is an inherited disorder of bone growth that results in short stature (dwarfism), characteristic skeletal abnormalities, and problems with vision. The ...

Spondyloepiphyseal dysplasia congenita
... Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that results in short stature (dwarfism), characteristic skeletal abnormalities, and problems with vision and hearing. Th...

Genes and Disease: Diastrophic dysplasia
... Diastrophic dysplasia (DTD) is a rare growth disorder in which patients are usually short, have club feet, and have malformed handsmand joints. Although found in all populations, it is particularly pr...

Genes and Disease: Ellis-van Creveld syndrome
... Ellis-van Creveld syndrome, also known as "chondroectodermal dysplasia," is a rare genetic disorder characterized by short-limb dwarfism, polydactyly (additional fingers or toes), malformati...