Spondylometaphyseal dysplasia, Kozlowski type (SMDK) is a rare genetic disorder that affects the bones and cartilage. It is characterized by short stature, shortening of the long bones of the arms and legs, and a flattened vertebral body. Other features may include a short neck, a narrow chest, and a prominent forehead. Affected individuals may also have skeletal abnormalities such as scoliosis, kyphosis, and hip dysplasia.

The symptoms of Spondylometaphyseal dysplasia, Kozlowski type, include short stature, a short neck, a broad chest, a prominent forehead, a flattened face, a short nose, a wide mouth, a high-arched palate, a short lower jaw, a protruding chin, a short neck, a broad chest, a short and broad rib cage, a short and broad pelvis, a short and broad upper arm, a short and broad lower arm, a short and broad upper leg, a short and broad lower leg, and a short and broad foot. Other symptoms may include scoliosis, joint laxity, and hearing loss.

Spondylometaphyseal dysplasia, Kozlowski type (SMDK) is a rare genetic disorder caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein called type II collagen, which is a major component of cartilage and other connective tissues. Mutations in the COL2A1 gene lead to the production of an abnormal form of type II collagen, which disrupts the normal development of bones and other connective tissues. This disruption can cause the signs and symptoms of SMDK.

The treatments for Spondylometaphyseal dysplasia, Kozlowski type, depend on the severity of the condition and the individual's symptoms. Treatment may include physical therapy, bracing, and/or surgery. Physical therapy can help improve strength, flexibility, and range of motion. Bracing may be used to help support the spine and reduce pain. Surgery may be necessary to correct any deformities or to stabilize the spine. In some cases, medications may be prescribed to help manage pain.

1. Autosomal recessive inheritance
2. Mutations in the TRPV4 gene
3. Family history of the disorder
4. Low birth weight
5. Short stature
6. Abnormal curvature of the spine
7. Abnormal shape of the vertebrae
8. Abnormal shape of the pelvis
9. Abnormal shape of the ribs
10. Abnormal shape of the long bones
11. Abnormal shape of the skull
12. Abnormal shape of the facial bones
13. Abnormal shape of the hands and feet
14. Abnormal development of the teeth
15. Abnormal development of the nails
16. Abnormal development of the joints
17. Abnormal development of the eyes
18. Abnormal development of the ears
19. Abnormal development of the heart

There is no known cure for Spondylometaphyseal dysplasia, Kozlowski type. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, medications to reduce pain and inflammation, and orthopedic surgery to correct skeletal deformities.