Frontonasal DysplasiaSymptoms, Doctors, Treatments, Advances & More
Learn About Frontonasal Dysplasia
Frontonasal dysplasia is a condition that results from abnormal development of the head and face before birth. People with frontonasal dysplasia have at least two of the following features: widely spaced eyes (ocular hypertelorism); a broad nose; a slit (cleft) in one or both sides of the nose; no nasal tip; a central cleft involving the nose, upper lip, or roof of the mouth (palate); incomplete formation of the front of the skull with skin covering the head where bone should be (anterior cranium bifidum occultum); or a widow's peak hairline.
Mutations in the ALX3 gene cause frontonasal dysplasia type 1, ALX4 gene mutations cause type 2, and ALX1 gene mutations cause type 3. These genes provide instructions for making proteins that are necessary for normal development, particularly of the head and face, before birth. The proteins produced from the ALX3, ALX4, and ALX1 genes are transcription factors, which means they attach (bind) to DNA and control the activity of certain genes. Specifically, the proteins control the activity of genes that regulate cell growth and division (proliferation) and movement (migration), ensuring that cells grow and stop growing at specific times and that they are positioned correctly during development. The ALX3 and ALX4 proteins are primarily involved in the development of the nose and surrounding tissues, while the ALX1 protein is involved in development of the eyes, nose, and mouth.
Frontonasal dysplasia is likely a rare condition; at least 100 cases have been reported in the scientific literature.
When frontonasal dysplasia is caused by mutations in the ALX1 or ALX3 gene, 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.
Jiao Wei practices practicing medicine in Huzhou, China. Wei is rated as an Elite expert by MediFind in the treatment of Frontonasal Dysplasia. They are also highly rated in 4 other conditions, according to our data. Their clinical expertise encompasses Bifid Nose, Frontonasal Dysplasia, Binder's Syndrome, Nasal Septal Hematoma, and Bone Graft.
Bassett Medical Center
Peter Roux is a Neurosurgery provider practicing medicine in Cooperstown, New York. Dr. Roux is rated as an Experienced provider by MediFind in the treatment of Frontonasal Dysplasia. He is also highly rated in 11 other conditions, according to our data. His clinical expertise encompasses Brain Aneurysm, Hydrocephalus, Subdural Hematoma, Laminectomy, and Awake Craniotomy. Dr. Roux is board certified in The American Board Of Neurological Surgery.
Tower Health Medical Group Neurosurgery - West Reading
John Kelleher is a Neurosurgery provider practicing medicine in West Reading, Pennsylvania. Dr. Kelleher is rated as an Experienced provider by MediFind in the treatment of Frontonasal Dysplasia. He is also highly rated in 19 other conditions, according to our data. His clinical expertise encompasses Spinal Stenosis, Cervical Spondylosis, Spondylolisthesis, Microdiscectomy, and Herniated Disc Surgery. Dr. Kelleher is board certified in American Board Of Neurological Surgery.
Published Date: April 01, 2014
Published By: National Institutes of Health