Acrocallosal SyndromeSymptoms, Doctors, Treatments, Advances & More
Learn About Acrocallosal Syndrome
Acrocallosal syndrome is a rare condition characterized by a brain abnormality called agenesis of the corpus callosum, the presence of extra fingers and toes (polydactyly), and distinctive facial features. The signs and symptoms of this disorder are present at birth, and their severity varies widely among affected individuals.
Mutations in the KIF7 gene have been found to cause acrocallosal syndrome. Mutations in another gene, GLI3, can also cause features of this disorder. However, the signs and symptoms overlap significantly with those of a similar disorder called Greig cephalopolysyndactyly syndrome (which is also caused by GLI3 gene mutations), so acrocallosal syndrome resulting from GLI3 gene mutations is sometimes considered a severe form of that condition.
This condition appears to be rare. Only a few dozen cases have been reported in the medical literature.
When acrocallosal syndrome is caused by KIF7 gene mutations, it is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Tania Bitach-Attie practices practicing medicine in Paris, France. Ms. Bitach-Attie is rated as an Elite expert by MediFind in the treatment of Acrocallosal Syndrome. She is also highly rated in 44 other conditions, according to our data. Her clinical expertise encompasses Oral-Facial-Digital Syndrome, Polydactyly, Curry Jones Syndrome, and Acrocallosal Syndrome.
Reading Hospital Neurology Suite 3020
Jasdeep Khurana is a Neurologist practicing medicine in West Reading, Pennsylvania. Dr. Khurana is rated as an Experienced provider by MediFind in the treatment of Acrocallosal Syndrome. She is also highly rated in 17 other conditions, according to our data. Her clinical expertise encompasses Seizures, Partial Familial Epilepsy, Memory Loss, and Partial Seizure. Dr. Khurana is board certified in American Board Of Psychiatry And Neurology.
Reading Hospital Neurology Suite 3020
Jyoti Pillai is a Neurologist practicing medicine in West Reading, Pennsylvania. Dr. Pillai is rated as an Experienced provider by MediFind in the treatment of Acrocallosal Syndrome. She is also highly rated in 13 other conditions, according to our data. Her clinical expertise encompasses Seizures, Epilepsy, Memory Loss, and Generalized Tonic-Clonic Seizure. Dr. Pillai is board certified in American Board Of Psychiatry And Neurology.
Published Date: January 01, 2017
Published By: National Institutes of Health