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.
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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?
RP
Rocco G. Piazza
Elite
Highly rated in
6
conditions

University Of Milano Bicocca

Milan, IT 20100

Rocco Piazza is in Milan, Italy. Piazza is rated as an Elite expert by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 1 TRPS1. He is also highly rated in 6 other conditions, according to our data. His top areas of expertise are Schinzel-Giedion Syndrome, Trichorhinophalangeal Syndrome Type 1 TRPS1, Chronic Myelogenous Leukemia, and Anaplastic Large Cell Lymphoma.

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YS
Yutaka Shimomura
Distinguished
Highly rated in
44
conditions

Division Of Dermatology

Ube, JP 

Yutaka Shimomura is in Ube, Japan. Shimomura is rated as a Distinguished expert by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 1 TRPS1. He is also highly rated in 44 other conditions, according to our data. His top areas of expertise are Monilethrix, Aplasia Cutis Congenita, Clouston Syndrome, and Ectodermal Dysplasias.

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HL
Hermann-josef J. Ludecke
Distinguished
Highly rated in
12
conditions

University Of Duisburg Essen

Duesseldorf, NW, DE 40225

Hermann-josef Ludecke is in Duesseldorf, Germany. Ludecke is rated as a Distinguished expert by MediFind in the treatment of Trichorhinophalangeal Syndrome Type 1 TRPS1. They are also highly rated in 12 other conditions, according to our data. Their top areas of expertise are Trichorhinophalangeal Syndrome Type 1 TRPS1, Trichorhinophalangeal Syndrome Type 2, Coffin-Siris Syndrome, and Acheiropody.

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What are the latest Trichorhinophalangeal Syndrome Type 1 (TRPS1) Clinical Trials?
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Who are the sources who wrote this article ?

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

What are the Latest Advances for Trichorhinophalangeal Syndrome Type 1 (TRPS1)?
Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.
Journal: Acta reumatologica portuguesa
Published: July 21, 2021
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Summary: Tricorhinophalangeal Syndrome type 1: a novel variant and Perthes-like hip changes as first manifestation.
SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome.
Journal: Nature communications
Published: July 01, 2021
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Summary: SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome.
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The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
Journal: NULL
Published: May 29, 2020
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Summary: The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
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