Trichorhinophalangeal Syndrome Type 1 (TRPS1)
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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

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 Trichorhinophalangeal Syndrome Type 1 (TRPS1). 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.

Experienced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Dr. Michael J. Patti
Family Medicine
Experienced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Dr. Michael J. Patti
Family Medicine

Berks Community Health Center

1110 Rockland St, 
Reading, PA 
610-988-4838
Languages Spoken:
English
See accepted insurances

Michael Patti is a primary care provider, practicing in Family Medicine in Reading, Pennsylvania. Dr. Patti is rated as an Experienced provider by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 1 (TRPS1). His clinical expertise encompasses Type 2 Diabetes (T2D), Hypertension, Glucocorticoid-Remediable Aldosteronism, and Familial Hypertension. Dr. Patti is board certified in American Board Of Family Medicine.

 
 
 
 
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Distinguished in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Distinguished in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Referral may be required
Harrow, ENG, GB 

Nuala Summerfield practices practicing medicine in Harrow, United Kingdom. Ms. Summerfield is rated as a Distinguished expert by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 1 (TRPS1). She is also highly rated in 2 other conditions, according to our data. Her clinical expertise encompasses Trichorhinophalangeal Syndrome Type 1 (TRPS1), Schinzel-Giedion Syndrome, Hypertrophic Cardiomyopathy (HCM), and Cardiomyopathy.

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