Microcephalic primordial dwarfism due to ZNF335 deficiency is a rare genetic disorder characterized by severe growth restriction, microcephaly (abnormally small head size), and intellectual disability. It is caused by mutations in the ZNF335 gene, which is involved in the regulation of growth and development. Affected individuals typically have a birth weight and length below the third percentile, and their head circumference is usually below the fifth percentile. They may also have distinctive facial features, including a prominent forehead, deep-set eyes, and a small chin. Other features may include skeletal abnormalities, hearing loss, and vision problems.

The symptoms of Microcephalic primordial dwarfism due to ZNF335 deficiency can vary from person to person, but may include:

- Severely reduced head size (microcephaly)
- Delayed development
- Poor muscle tone
- Intellectual disability
- Seizures
- Abnormal facial features
- Short stature
- Abnormalities of the hands and feet
- Abnormalities of the eyes, ears, and nose
- Abnormalities of the heart and other organs

Microcephalic primordial dwarfism due to ZNF335 deficiency is caused by a mutation in the ZNF335 gene. This gene is responsible for the production of a protein that is involved in the development of the brain and other organs. Mutations in this gene can lead to a range of developmental abnormalities, including microcephaly (abnormally small head size) and primordial dwarfism (abnormally small body size).

Unfortunately, there is no known cure for Microcephalic Primordial Dwarfism due to ZNF335 deficiency. Treatment focuses on managing the symptoms and complications associated with the condition. This may include physical therapy to help with mobility, occupational therapy to help with daily activities, speech therapy to help with communication, and nutritional counseling to help with dietary needs. In some cases, medications may be prescribed to help with seizures or other medical issues. Additionally, surgery may be recommended to correct any physical deformities or to help with breathing difficulties.

1. Genetic mutation in the ZNF335 gene.
2. Family history of Microcephalic primordial dwarfism due to ZNF335 deficiency.
3. Low birth weight.
4. Premature birth.
5. Low Apgar scores at birth.
6. Abnormal head circumference.
7. Abnormal facial features.
8. Delayed development.
9. Intellectual disability.
10. Seizures.
11. Abnormal EEG.
12. Abnormal MRI.
13. Abnormal CT scan.
14. Abnormal blood tests.

At this time, there is no known cure or medications for microcephalic primordial dwarfism due to ZNF335 deficiency. Treatment is focused on managing the symptoms and complications associated with the condition. This may include physical therapy, occupational therapy, speech therapy, and other supportive therapies.