Camptodactyly Taurinuria
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Learn About Camptodactyly Taurinuria

What is the definition of Camptodactyly Taurinuria?
Camptodactyly-taurinuria syndrome is a congenital malformation syndrome characterized by the association of a permanent camptodactyly of the fingers (see this term) with the over excretion of taurine in the urine. Camptodactyly mainly affects the little finger, although any finger may be involved. The disease has been described in 17 affected patients from 4 unrelated families. An autosomal dominant inheritance has been suggested. There have been no further descriptions in the literature since 1966.
What are the alternative names for Camptodactyly Taurinuria?
  • Camptodactyly taurinuria
  • Camptodactyly with Taurinuria
  • Camptodactyly-taurinuria
  • Camptodactyly-taurinuria syndrome
  • Familial streblodactyly with amino-aciduria
Who are the top Camptodactyly Taurinuria Local Doctors?
Experienced in Camptodactyly Taurinuria
Experienced in Camptodactyly Taurinuria

ETSU Physicians & Associates- Pediatrics

325 N State Of Franklin Rd, 
Johnson City, TN 
Languages Spoken:
English

. Dr. Russi is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. His top areas of expertise are Increased Head Circumference, Ehlers-Danlos Syndrome (EDS), Chromosome 8p Deletion, and Chromosome 6q Duplication.

Natario L. Couser
Advanced in Camptodactyly Taurinuria
Ophthalmology
Advanced in Camptodactyly Taurinuria
Ophthalmology

Howard County Medical Pavilion

10710 Charter Drive, Suite 310, Suite 310, 
Columbia, MD 
Languages Spoken:
English
Offers Telehealth

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 Taurinuria. His top areas of expertise are Epicanthal Folds, Strabismus, Brown Syndrome, and Hypotonia.

 
 
 
 
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Experienced in Camptodactyly Taurinuria
Medical Genetics | Pediatrics
Experienced in Camptodactyly Taurinuria
Medical Genetics | Pediatrics

St. Christopher's Pediatric Associates Genetics - E. Erie Avenue

160 E Erie Ave, 
Philadelphia, PA 
Languages Spoken:
English

. Dr. Arnold is rated as an Experienced provider by MediFind in the treatment of Camptodactyly Taurinuria. Her top areas of expertise are Phenylketonuria (PKU), Mitochondrial Trifunctional Protein Deficiency, Krabbe Disease, and Inborn Amino Acid Metabolism Disorder.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center