Metaphyseal acroscyphodysplasia is a rare genetic disorder that affects the development of bones and joints. It is characterized by short stature, skeletal abnormalities, and joint laxity. Affected individuals may also have facial dysmorphism, hearing loss, and intellectual disability.

The symptoms of Metaphyseal acroscyphodysplasia vary from person to person, but may include:

-Short stature
-Delayed growth and development
-Abnormal facial features, including a prominent forehead, deep-set eyes, and a small chin
-Widely spaced teeth
-Hearing loss
-Joint Stiffness and pain
-Abnormal curvature of the spine (scoliosis)
-Abnormalities of the hands and feet, including short fingers and toes, and webbing between the toes
-Abnormalities of the ribs and chest wall
-Heart defects
-Kidney abnormalities
-Intellectual disability

Metaphyseal acroscyphodysplasia is a rare genetic disorder caused by mutations in the WNT1 gene. This gene is responsible for the production of a protein that helps regulate the development of bones and cartilage. Mutations in this gene can lead to the abnormal development of bones and cartilage, resulting in the characteristic features of Metaphyseal acroscyphodysplasia.

Unfortunately, there is no known cure for Metaphyseal acroscyphodysplasia. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and medications to help manage pain and other symptoms. Additionally, genetic counseling may be recommended for families affected by the condition.

1. Genetic mutation in the WDR60 gene
2. Family history of Metaphyseal acroscyphodysplasia
3. Exposure to certain environmental toxins
4. Maternal smoking during pregnancy
5. Low birth weight
6. Premature birth

At this time, there is no cure for Metaphyseal acroscyphodysplasia. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and medications to help manage pain and other symptoms.