Trichorhinophalangeal Syndrome Type 1 (TRPS1) Overview

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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)
Dr. Mark K. Brummel
Family Medicine
Experienced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Dr. Mark K. Brummel
Family Medicine

ETSU Family Practice - Kingsport

102 E Ravine Rd, 
Kingsport, TN 
423-245-9600
Languages Spoken:
English
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Offers Telehealth

. Dr. Brummel is rated as an Experienced provider by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 1 (TRPS1). His top areas of expertise are Pelvic Floor Dysfunction, Chronic Obstructive Pulmonary Disease (COPD), Type 2 Diabetes (T2D), and Lung Metastases.

Experienced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Dr. Kenneth B. Wells
Family Medicine
Experienced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Dr. Kenneth B. Wells
Family Medicine

Coastal Medical Physicians Inc

20 Southwest Ave, 
Jamestown, RI 
401-423-2616
Languages Spoken:
English
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Kenneth Wells is a primary care provider, practicing in Family Medicine in Jamestown, Rhode Island. Dr. Wells is rated as an Experienced provider by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 1 (TRPS1). His top areas of expertise are Total Anomalous Pulmonary Venous Return, Chronic Pain, COVID-19, and Maturity Onset Diabetes of the Young.

 
 
 
 
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Experienced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Dr. Kevin D. Schendel
Internal Medicine
Experienced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Dr. Kevin D. Schendel
Internal Medicine

Arnett Clinic, LLC

2600 Greenbush St, 
Lafayette, IN 
765-448-8000
Languages Spoken:
English
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Accepting New Patients

Kevin Schendel is a primary care provider, practicing in Internal Medicine in Lafayette, Indiana. Dr. Schendel is rated as an Experienced provider by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 1 (TRPS1). His top areas of expertise are Hypothyroidism, Obesity in Children, Umbilical Hernia, Endoscopy, and Ureteroscopy. Dr. Schendel is currently accepting new patients.

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