Spondylometaphyseal dysplasia, Czarny-Ratajczak type (SMDC) is a rare genetic disorder characterized by short stature, skeletal abnormalities, and facial features. Affected individuals typically have short arms and legs, a short neck, and a narrow chest. They may also have a prominent forehead, a flattened nose, and a small lower jaw. Other features may include a short, broad rib cage, a curved spine, and a flattened pelvis. Affected individuals may also have hearing loss, vision problems, and intellectual disability. SMDC is caused by mutations in the COL2A1 gene and is inherited in an autosomal recessive manner.

The symptoms of Spondylometaphyseal dysplasia, Czarny-Ratajczak type (SMDC) include:

-Short stature
-Delayed bone age
-Flat face
-Short neck
-Broad chest
-Short ribs
-Flared metaphyses
-Enlarged epiphyses
-Enlarged vertebral bodies
-Enlarged intervertebral discs
-Scoliosis
-Kyphosis
-Hip dysplasia
-Joint laxity
-Joint contractures
-Muscle weakness
-Developmental delay
-Intellectual disability

Spondylometaphyseal dysplasia, Czarny-Ratajczak type is caused by a mutation in the COL2A1 gene. This gene provides instructions for making a protein called type II collagen, which is a major component of cartilage. Mutations in this gene lead to the production of an abnormal form of type II collagen, which disrupts the normal development of bones and other connective tissues.

The treatment for Spondylometaphyseal dysplasia, Czarny-Ratajczak type is mainly supportive and symptomatic. Treatment may include physical therapy, occupational therapy, and orthopedic surgery to correct skeletal deformities. Medications may be prescribed to reduce pain and inflammation. In some cases, growth hormone therapy may be recommended to help improve growth and development. Genetic counseling may also be recommended for families affected by this condition.

1. Autosomal recessive inheritance
2. Mutations in the TRAPPC2 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 muscles
18. Abnormal development of the eyes
19. Abnormal development of the ears

There is no known cure for Spondylometaphyseal dysplasia, Czarny-Ratajczak 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.