Trichorhinophalangeal Syndrome Type 1 (TRPS1)
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Learn About Trichorhinophalangeal Syndrome Type 1 (TRPS1)

What is the definition of Trichorhinophalangeal Syndrome Type 1 (TRPS1)?
Trichorhinophalangeal syndrome type 1 (TRPS1) is an extremely rare inherited multisystem disorder. TRPS1 is characterized by a distinctive facial appearance that includes sparse scalp hair; a rounded nose; a long, flat area between the nose and the upper lip (philtrum); and a thin upper lip. Individuals with this condition also have skeletal abnormalities such as cone-shaped epiphyses in their fingers and toes and short stature. The range and severity of symptoms may vary from case to case. Transmission of TRPS1 is autosomal dominant, linked to genetic changes in the TRPS1 gene localized to 8q24.12.
What are the alternative names for Trichorhinophalangeal Syndrome Type 1 (TRPS1)?
  • Trichorhinophalangeal syndrome type 1
  • Giedion syndrome
  • TRPS1
Who are the top Trichorhinophalangeal Syndrome Type 1 (TRPS1) Local Doctors?
Experienced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Internal Medicine
Experienced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Internal Medicine

Laboratory Corporation Of America

1200 W White River Blvd, 
Muncie, IN 
Languages Spoken:
English
Accepting New Patients
Offers Telehealth

Kevin Schendel is a primary care provider, practicing in Internal Medicine in Muncie, Indiana. Dr. Schendel is rated as an Experienced provider by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 1 (TRPS1). He is also highly rated in 31 other conditions, according to our data. His clinical expertise encompasses Hypothyroidism, Obesity in Children, Umbilical Hernia, Endoscopy, and Ureteroscopy. Dr. Schendel is currently accepting new patients.

Experienced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Family Medicine
Experienced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Family Medicine

Preferred Physicians PC

430 W Votaw St, 
Portland, IN 
Languages Spoken:
English
Accepting New Patients

Jerry Whetzel is a primary care provider, practicing in Family Medicine in Portland, Indiana. Dr. Whetzel is rated as an Experienced provider by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 1 (TRPS1). He is also highly rated in 37 other conditions, according to our data. His clinical expertise encompasses Hypertension, Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, and Maturity Onset Diabetes of the Young. Dr. Whetzel is currently accepting new patients.

 
 
 
 
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Distinguished in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Internal Medicine
Distinguished in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Internal Medicine

John Muir Physician Network

140 Brookwood Rd Ste 201, 
Orinda, CA 
Languages Spoken:
English, Spanish
Accepting New Patients
Offers Telehealth

Juana Gonzalez-Aguirre is a primary care provider, practicing in Internal Medicine in Orinda, California. Dr. Gonzalez-Aguirre is rated as a Distinguished provider by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 1 (TRPS1). She is also highly rated in 27 other conditions, according to our data. Her clinical expertise encompasses Bartsocas-Papas Syndrome, Ophthalmo-Acromelic Syndrome, ADULT Syndrome, and Holt-Oram Syndrome. Dr. Gonzalez-Aguirre is currently accepting new patients.

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