Oral-facial-digital syndrome with short stature and brachymesophalangy (OFD-SSBM) is a rare genetic disorder characterized by facial, oral, and digital abnormalities, as well as short stature and brachymesophalangy (shortening of the middle bones of the fingers and toes). Symptoms may include cleft lip and/or palate, malformed ears, low-set ears, malformed nose, malformed teeth, malformed fingers and toes, and short stature. Other features may include intellectual disability, seizures, and/or hearing loss. Treatment is symptomatic and may include surgery, speech therapy, physical therapy, and/or genetic counseling.

The symptoms of Oral-facial-digital syndrome with Short stature and brachymesophalangy can vary from person to person, but may include:

- Abnormal facial features, such as a wide-set eyes, a flat midface, a small jaw, and a wide mouth
- Abnormalities of the hands and feet, such as webbed fingers and toes, extra digits, and/or missing digits
- Abnormalities of the oral cavity, such as cleft palate, missing teeth, and/or malformed teeth
- Abnormalities of the brain, such as seizures, intellectual disability, and/or behavioral problems
- Short stature
- Brachymesophalangy, which is a condition in which the bones of the middle finger are fused together

Oral-facial-digital syndrome with short stature and brachymesophalangy is a rare genetic disorder caused by a mutation in the OFD1 gene. This gene is responsible for the development of the face, mouth, and digits. The mutation can be inherited from a parent or can occur spontaneously. Other causes of this syndrome include chromosomal abnormalities, such as trisomy 13 or 18, and environmental factors, such as exposure to certain toxins or medications.

The treatments for Oral-facial-digital syndrome with short stature and brachymesophalangy depend on the specific symptoms and severity of the condition. Treatment may include physical therapy, occupational therapy, speech therapy, orthopedic surgery, and genetic counseling. In some cases, growth hormone therapy may be recommended to help improve growth and development. Surgery may be recommended to correct any skeletal abnormalities. Additionally, medications may be prescribed to help manage any associated medical conditions, such as seizures or heart defects.

1. Genetic mutations: Oral-facial-digital syndrome with short stature and brachymesophalangy is caused by genetic mutations in the OFD1 gene.

2. Family history: Having a family history of the condition increases the risk of developing it.

3. Gender: The condition is more common in males than females.

4. Age: The condition is more likely to occur in children under the age of 10.

5. Ethnicity: The condition is more common in people of Asian descent.

There is no cure for Oral-facial-digital syndrome with short stature and brachymesophalangy. Treatment focuses on managing the symptoms and complications associated with the condition. Medications may be prescribed to help manage seizures, pain, and other symptoms. Physical and occupational therapy may be recommended to help improve mobility and strength. Surgery may be recommended to correct any physical deformities.