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. Alexander J. Lea
Family Medicine
Experienced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Dr. Alexander J. Lea
Family Medicine

Primary Health Physicians PLLC

7400 N Macarthur Blvd, Suite 100, 
Irving, TX 
 (17.3 mi)
469-804-9295
Languages Spoken:
English, Spanish
See accepted insurances
Accepting New Patients
Offers Telehealth

Alexander Lea is a Family Medicine provider in Irving, Texas. Dr. Lea and is rated as an Experienced provider by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 1 (TRPS1). His top areas of expertise are Bartsocas-Papas Syndrome, Holt-Oram Syndrome, ADULT Syndrome, and Ophthalmo-Acromelic Syndrome. Dr. Lea is currently accepting new patients.

Advanced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Dr. Mark C. Hand
Family Medicine
Advanced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Dr. Mark C. Hand
Family Medicine

Memorial Hermann Medical Group

8480 Hwy 6 N, 
Houston, TX 
 (221.0 mi)
281-550-9005
Languages Spoken:
English, Spanish
See accepted insurances
Accepting New Patients
Offers Telehealth

Mark Hand is a Family Medicine provider in Houston, Texas. Dr. Hand and is rated as an Advanced provider by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 1 (TRPS1). His top areas of expertise are VACTERL Association, Holt-Oram Syndrome, Nail-Patella Syndrome, and Bartsocas-Papas Syndrome. Dr. Hand is currently accepting new patients.

 
 
 
 
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Experienced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Dr. Christopher R. Grant
Family Medicine
Experienced in Trichorhinophalangeal Syndrome Type 1 (TRPS1)
Dr. Christopher R. Grant
Family Medicine

Scott And White Clinic

1605 S 31st St, Baylor Scott And White Center For Dia, 
Temple, TX 
 (119.3 mi)
254-215-0100
Languages Spoken:
English
See accepted insurances

Christopher Grant is a Family Medicine provider in Temple, Texas. Dr. Grant and is rated as an Experienced provider by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 1 (TRPS1). His top areas of expertise are Type 2 Diabetes (T2D), Familial Hypertension, Glucocorticoid-Remediable Aldosteronism, and Hypertension.

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