The topic Pili Torti and Nerve Deafness you are seeking is a synonym, or alternative name, or is closely related to the medical condition Bjornstad Syndrome.

Quick Summary:

• Bjornstad Syndrome (BJS or Björnstad Syndrome) is a very rare genetic disorder that leads to abnormal hair growth and hearing loss. It is caused by the inheritance of mutations in the BCS1L gene. It is also known as Pili Torti and Nerve Deafness (PTND)
• The syndrome follows an autosomal recessive inheritance pattern, such that an individual must have two copies of the mutated BCS1L gene in order to have the disorder. Thus, a family history of Bjornstad Syndrome is the single greatest risk factor for a child to be born with the syndrome
• The signs and symptoms of Bjornstad Syndrome include patches of hair loss in a child. If there is hair on the scalp, it is often dry, brittle, and coarse. Additionally, the condition can also cause deafness and underdeveloped reproductive organs
• A child may be diagnosed with Bjornstad Syndrome right after birth due to the presence of twisted hair (termed pili torti). The hair shafts may be examined under an electron microscope to identify the characteristic features. Also, specialized hearing tests are administered to evaluate nerve deafness
• The complications of Bjornstad Syndrome often are related to mutations in the BCS1L gene, which can lead to mitochondrial complex III deficiency. Apart from this, individuals may show irreversible hearing loss and premature baldness
• There is currently no specific treatments available for Bjornstad Syndrome; however, a management of the symptoms, such as abnormal hair growth and hearing loss, may be undertaken by a qualified healthcare provider. Even though the affected individuals have a normal lifespan, permanent hearing loss and other associated symptoms remain lifelong
• Presently, there are no available preventative measures for Bjornstad Syndrome, although genetic counseling and testing prior to planning for a child may help in assessing the risks of a couple having a child with the disorder

Please find comprehensive information on Bjornstad Syndrome regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.