This condition affects several parts of the body such as the eyes, the teeth and the fingers. In addition, the affected individual can also experience additional symptoms such as curvature of the fingers, small sized head and neurological problems. Some of the symptoms of this disorder can be apparent at the birth of the infant while others may appear over time with age.
Causes
Oculodentodigital dysplasia develops because of a genetic mutation in GJA1 which produces a protein called connexin43. This protein is essential for the formation of gap junctions that allow the communication between the cells. These gap junctions are evident in several tissues throughout the body. The genetic mutation results in the gap junctions that are mostly closed which can affect the cell-to-cell communication. This can cause problems with the normal growth of cell and cell specialization that determines the shape and the function of various parts of the body. Most of the cases are inherited in an autosomal dominant pattern meaning a single copy of the altered gene can cause the condition. In some cases, it can also develop because of a new genetic mutation with no history of the disorder in the family. Less commonly, it can be inherited in an autosomal recessive pattern meaning both the copies of the gene in each cell are defective.
Symptoms
This rare disorder is characterized by the webbing of some of the digits, small transparent cornea, underdeveloped outer walls of each nostril, defective teeth enamel and hair that grows slowly. Other symptoms can include a smaller than a normal sized head, small teeth, eyes that don’t look in the same direction (strabismus), glaucoma, cleft lip and bone abnormalities of the fingers. Some of the neurological problems include cerebral white matter abnormalities, neurogenic bladder, loss of voluntary coordination of muscle movements (ataxia), seizures, unusual tightness or stiffness of the muscles (spasticity) and mental retardation.
Diagnosis
The diagnosis is based on the identification of the features characteristic of the condition and with various specialized tests. The early diagnosis can help reach the best treatment options which can also prevent more symptoms from developing. A genetic testing can help confirm the diagnosis by identifying the mutation responsible for the development of the condition.
Treatment
The treatment is based on the symptoms evident in each case. Individuals with this condition may benefit from a surgery to repair the bone malformations and the webbing of the fingers. In the case of a defect in the enamel of the teeth, a full crown restoration may be useful. Strabismus may be corrected by wearing a patch over the healthy eye to encourage the strengthening of the weak eye. A genetic counseling may be beneficial for some of the affected cases and their family members. Other forms of treatment are based by providing supportive care and symptomatic relief.
References
https://rarediseases.org/rare-diseases/oculo-dento-digital-dysplasia/
https://rarediseases.info.nih.gov/diseases/7239/oculodentodigital-dysplasia
https://ghr.nlm.nih.gov/condition/oculodentodigital-dysplasia#inheritance
https://www.nfed.org/learn/types/oculodentodigital-syndrome/
