Frontometaphyseal DysplasiaSymptoms, Doctors, Treatments, Advances & More
Learn About Frontometaphyseal Dysplasia
Frontometaphyseal dysplasia is a disorder involving abnormalities in skeletal development and other health problems. It is a member of a group of related conditions called otopalatodigital spectrum disorders, which also includes otopalatodigital syndrome type 1, otopalatodigital syndrome type 2, Melnick-Needles syndrome, and terminal osseous dysplasia. In general, these disorders involve hearing loss caused by malformations in the tiny bones in the ears (ossicles), problems in the development of the roof of the mouth (palate), and bony abnormalities involving various areas of the skeleton.
Variants (also called mutations) in the FLNA gene cause frontometaphyseal dysplasia type 1. Variants in the MAP3K7 gene cause frontometaphyseal dysplasia type 2, and TAB2 gene variants cause type 3.
Frontometaphyseal dysplasia is a rare disorder; over a hundred cases have been reported worldwide.
When frontometaphyseal dysplasia is caused by variants in the FLNA gene, it is inherited in an X-linked dominant pattern. The FLNA gene is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a variant in one of the two copies of the gene in each cell is sufficient to cause the disorder. In males (who have only one X chromosome), a variant in the only copy of the gene in each cell causes the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Males with frontometaphyseal dysplasia type 1 generally have more severe signs and symptoms of the disorder than do females, who may show only the characteristic facial features.
Emma Wade practices practicing medicine in Dunedin, New Zealand. Ms. Wade is rated as an Elite expert by MediFind in the treatment of Frontometaphyseal Dysplasia. She is also highly rated in 10 other conditions, according to our data. Her clinical expertise encompasses Frontometaphyseal Dysplasia, Autosomal Cleft Palate, Schwartz-Jampel Syndrome, and X-Linked Spondyloepiphyseal Dysplasia Tarda.
Stephen Robertson practices practicing medicine in Dunedin, New Zealand. Mr. Robertson is rated as a Distinguished expert by MediFind in the treatment of Frontometaphyseal Dysplasia. He is also highly rated in 27 other conditions, according to our data. His clinical expertise encompasses Periventricular Heterotopia, Frontometaphyseal Dysplasia, Osteopathia Striata Cranial Sclerosis, and Micrognathia.
Nemours Children's Hospital, Delaware
Both of my parents were in the medical field and strongly influenced the direction of my career. I became a physical therapist, which I enjoyed immensely, but I thought I could make a different contribution to patient care by becoming a physician. In radiology, we are part of the medical team that helps diagnose or exclude an illness and we help to direct the course of our patient’s treatment. Working with children is an amazing experience. Kids are so resilient and bounce back from all types of difficult situations. They each have such a unique perspective and we try our best to tailor our interactive imaging procedures to the child. Sometimes this involves providing anatomy lessons to teen patients, other times it involves just “getting it over with.” We aim to make our imaging procedures as interesting and as comfortable as possible. My areas of interest include: Pediatric Body Imaging Fetal Imaging Child Abuse I try to provide the most accurate information based on our imaging studies to the patient’s medical team so that the child can be treated as quickly as possible. I am fortunate to work with an incredible group of medical practitioners at Nemours/Alfred I. duPont Hospital for Children who share my passion to provide the highest quality medical care to all children. Dr. Harty is rated as an Advanced provider by MediFind in the treatment of Frontometaphyseal Dysplasia. She is also highly rated in 52 other conditions, according to our data. Her clinical expertise encompasses X-Linked Spondyloepiphyseal Dysplasia Tarda, Kniest Dysplasia, Spondyloepiphyseal Dysplasia Congenita, and Weissenbacher-Zweymuller Syndrome. Dr. Harty is board certified in American Board Of Radiology.
Published Date: June 16, 2022
Published By: National Institutes of Health