Spondyloepiphyseal dysplasia, Kimberley type (SED-K) is a rare genetic disorder that affects the growth of bones and cartilage. It is characterized by short stature, skeletal abnormalities, and progressive joint stiffness. People with SED-K may also have hearing loss, vision problems, and other health issues.

The symptoms of Spondyloepiphyseal dysplasia, Kimberley type, include:

-Short stature
-Dwarfism
-Delayed bone age
-Flat face
-Prominent forehead
-Short neck
-Flat midface
-Small chin
-Short ribs
-Narrow chest
-Flared ribs
-Short, bowed legs
-Flat feet
-Joint laxity
-Hip dysplasia
-Scoliosis
-Kyphosis
-Spinal stenosis
-Cervical spine instability
-Osteoarthritis
-Eye abnormalities
-Hearing loss
-Cardiac defects
-Gastrointestinal problems
-Renal abnormalities

Spondyloepiphyseal dysplasia, Kimberley type (SEDK) is a rare genetic disorder caused by a mutation in the COL2A1 gene. This gene provides instructions for making a protein called type II collagen, which is found in cartilage and other connective tissues. The mutation in the COL2A1 gene leads to the production of an abnormal form of type II collagen, which causes the signs and symptoms of SEDK.

1. Physical therapy: Physical therapy can help improve strength, flexibility, and range of motion in the affected joints.

2. Surgery: Surgery may be necessary to correct any skeletal deformities or joint problems.

3. Medications: Nonsteroidal anti-inflammatory drugs (NSAIDs) may be prescribed to reduce pain and inflammation.

4. Assistive devices: Assistive devices such as braces, canes, and walkers may be used to help with mobility.

5. Genetic counseling: Genetic counseling can help families understand the condition and the risks associated with it.

1. Genetic mutation: Spondyloepiphyseal dysplasia, Kimberley type is caused by a mutation in the COL2A1 gene.

2. Family history: This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

3. Age: This condition is usually diagnosed in childhood.

There is no cure for Spondyloepiphyseal dysplasia, Kimberley type. Treatment focuses on managing the symptoms and complications. Medications may be prescribed to help with pain, muscle spasms, and other symptoms. Physical therapy and occupational therapy may also be recommended to help maintain mobility and strength. Surgery may be necessary to correct skeletal deformities.