Camptodactyly Fibrous Tissue Hyperplasia Skeletal DysplasiaSymptoms, Doctors, Treatments, Advances & More
Learn About Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia
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Howard County Medical Pavilion
Dr. Couser obtained his bachelor’s degree from the University of Virginia and his Medical Doctorate from the Virginia Commonwealth University School of Medicine (VCU SOM). Dr. Couser’s ophthalmology residency was completed at Howard University where he served as co-chief resident in the last year of his residency. He received fellowship training in pediatric ophthalmology and adult strabismus at Emory University. Dr. Couser received a master’s degree in biotechnology from the Johns Hopkins University and completed a residency in clinical genetics at the University of North Carolina at Chapel Hill. He is one of only a few individuals currently board-certified by both the American Board of Ophthalmology and the American Board of Medical Genetics and Genomics. CV https://www.hopkinsmedicine.org/-/media/wilmer/documents/cvs/couser-cv Research Summary My primary research focus involves the identification and management of genetic eye diseases including rare inherited disorders affecting the eyes. Research and scholarly activities have been an integral component of my career path. I have been the principal investigator on 10 clinical trial/IRB studies and a co-investigator on others, participated with several committees or advisory panels related to research activities. I have been credited with over 120 book chapter, journal article and abstract publications. In addition, I served as the primary author/sole editor for a textbook titled Ophthalmic Genetic Diseases: A Quick Reference Guide to the Eye and External Ocular Adnexa Abnormalities, 1st Edition, published by Elsevier in 2018, which is one of only a few textbooks published in this subject area. I also served as a grant review panelist for the National Eye Institute Career Development Awards. Selected Publications *Couser NL, Masood MM, Strande NT, Foreman AKM, Crooks K, Weck KE, Lu M, Wilhelmsen KC, Roche M, Evans JP, Berg JS, Powell CM. 2015. The phenotype of multiple congenital anomalies- hypotonia-seizures syndrome 1: Report and review. Am J Med Genet Part A 9999A:1–6 *Couser NL, Lambert SR. Botulinum toxin: A treatment of consecutive esotropia in children. Strabismus 2012; 20(4):158-161 Couser NL, Lenhart PD, Hutchinson AK. Augmented Hummelsheim procedure to treat complete abducens nerve palsy. J AAPOS 2012;16(4):331-5 *Natario L. Couser, Maheer M. Masood, Arthur S. Aylsworth, and Roger E. Stevenson. Ocular manifestations in the X-linked intellectual disability syndromes. Ophthalmic Genet. 2017, Jan 23:1-12 *Couser NL, Brooks BP, Drack AV, Shankar SP. The evolving role of genetics in ophthalmology. Ophthalmic Genet. 2021 Jan 12:1-4. doi: 10.1080/13816810.2020.1868011. Dr. Couser is rated as an Advanced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. He is also highly rated in 13 other conditions, according to our data. His clinical expertise encompasses Epicanthal Folds, Strabismus, Hypotonia, and Brown Syndrome. Dr. Couser is board certified in American Board Of Medical Genetics And Genomics and American Board Of Ophthalmology.
St. Christopher's Pediatric Associates Genetics - E. Erie Avenue
Georgianne Arnold is a Medical Genetics specialist and a Pediatrics provider practicing medicine in Philadelphia, Pennsylvania. Dr. Arnold is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. She is also highly rated in 8 other conditions, according to our data. Her clinical expertise encompasses Phenylketonuria (PKU), Mitochondrial Trifunctional Protein Deficiency, Krabbe Disease, and Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. Dr. Arnold is board certified in American Board Of Medical Genetics And Genomics and American Board Of Pediatrics.
ETSU Family Practice - Kingsport
Mark Brummel is a primary care provider, practicing in Family Medicine in Kingsport, Tennessee. Dr. Brummel is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Fibrous Tissue Hyperplasia Skeletal Dysplasia. His clinical expertise encompasses Pelvic Floor Dysfunction, Chronic Obstructive Pulmonary Disease (COPD), Type 2 Diabetes (T2D), and Lung Metastases. Dr. Brummel is board certified in American Board Of Family Medicine.
Summary: CACP syndrome is a rare autosomal recessive disorder characterized by the triad of camptodactyly, non-inflammatory arthropathy with synovial hyperplasia, and coxa vara. Occasionally, non-inflammatory pericarditis and pleural effusion may also occur. This syndrome is likely underdiagnosed due to its rarity. Epidemiological information is limited to isolated case reports or small patient series, wit...