About Deafness-enamel hypoplasia-nail defects syndrome
What is Deafness-enamel hypoplasia-nail defects syndrome?
Deafness-enamel hypoplasia-nail defects syndrome (DEND) is a rare genetic disorder characterized by hearing loss, enamel hypoplasia (abnormal development of the enamel of the teeth), and nail defects. It is caused by mutations in the GJB2 gene, which is responsible for the production of a protein called connexin 26. This protein is important for the normal development of the inner ear and the formation of the enamel of the teeth. People with DEND may also have other symptoms, such as cleft palate, facial dysmorphism, and intellectual disability.
What are the symptoms of Deafness-enamel hypoplasia-nail defects syndrome?
The symptoms of Deafness-enamel hypoplasia-nail defects syndrome include:
• Hearing loss
• Enamel hypoplasia (abnormal development of the enamel of the teeth)
• Nail defects (such as ridging, pitting, and splitting of the nails)
• Abnormal facial features (such as a broad nasal bridge, a long philtrum, and a thin upper lip)
• Intellectual disability
• Delayed development
• Seizures
• Abnormalities of the eyes (such as strabismus and cataracts)
• Abnormalities of the heart (such as atrial septal defect and ventricular septal defect)
• Abnormalities of the kidneys (such as cysts and polycystic kidney disease)
• Abnormalities of
What are the causes of Deafness-enamel hypoplasia-nail defects syndrome?
The exact cause of Deafness-enamel hypoplasia-nail defects syndrome is unknown. However, it is believed to be caused by a genetic mutation that affects the development of the inner ear, resulting in hearing loss. Other possible causes include environmental factors, such as exposure to certain medications or toxins, or a viral infection.
What are the treatments for Deafness-enamel hypoplasia-nail defects syndrome?
Unfortunately, there is no known cure for Deafness-enamel hypoplasia-nail defects syndrome. Treatment focuses on managing the symptoms and providing support to the affected individual and their family. This may include hearing aids, cochlear implants, speech therapy, sign language classes, and counseling. Additionally, regular dental care is important to maintain the health of the teeth and nails.
What are the risk factors for Deafness-enamel hypoplasia-nail defects syndrome?
1. Genetic mutation: Deafness-enamel hypoplasia-nail defects syndrome is caused by a mutation in the GJB2 gene.
2. Family history: Individuals with a family history of the syndrome are at an increased risk of developing the condition.
3. Ethnicity: Deafness-enamel hypoplasia-nail defects syndrome is more common in individuals of Ashkenazi Jewish descent.
4. Age: The syndrome is more likely to occur in infants and young children.
Is there a cure/medications for Deafness-enamel hypoplasia-nail defects syndrome?
Unfortunately, there is no known cure or medications for Deafness-enamel hypoplasia-nail defects syndrome. Treatment is focused on managing the symptoms and providing support for the affected individual. This may include hearing aids, speech therapy, and other forms of communication support. Additionally, regular dental care is important to help maintain healthy teeth and nails.