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Trichorhinophalangeal dysplasia type I

Known as: TRICHORHINOPHALANGEAL SYNDROME, TYPE I, TRPS1, Trichorhinophalangeal (TRP) syndrome 1 
A rare autosomal dominant syndrome caused by mutations in the TRPS1 gene. It is characterized by distinctive facial appearance (sparse hair, pear… 
National Institutes of Health

Related topics

Related topics

22 relations
Autosomal dominant inheritanceChromosomes, Human, Pair 8Congenital pectus carinatumCoxa Magna

Broader (5)

FingersHair DiseasesLanger-Giedion SyndromeNose

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2017
2017
Exome sequencing identifies de novo pathogenic variants in FBN1 and TRPS1 in a patient with a complex connective tissue phenotype
Here we describe a patient who presented with a history of congenital diaphragmatic hernia, inguinal hernia, and recurrent… 
2014
2014
A novel TRPS1 mutation in a family with tricho‐rhino‐phalangeal syndrome type 1
Tricho‐rhino‐phalangeal syndrome (TRPS) is an autosomal‐dominant disease characterized by sparse and slow‐growing scalp hair and… 
2014
2014
A novel de novo nonsense mutation in the TRPS1 gene in a Japanese patient with tricho‐rhino‐phalangeal syndrome type I
Tricho-rhino-phalangeal syndrome (TRPS) is an autosomaldominant condition characterized by sparse hair and craniofacial and… 
2014
2014
Unexpected exome sequencing result: De novo TRPS1 mutation in an infant with infantile scoliosis, mild developmental delay, and history of consanguinity
Unexpected Exome Sequencing Result: De Novo TRPS1 Mutation in an Infant With Infantile Scoliosis, Mild Developmental Delay, and… 
2005
2005
Langer-giedion syndrome with renal cyst.
Here it is reported a 4-year-old boy with Langer-Giedion syndrome (Trichorhino phalangeal syndrome-II), who had characteristic… 
2003
2003
"Trichorhinophalangeal Syndrome Type I": A Turkish Case
rare complex genetic disorder characterized by sparse, slow growing hair, a bulbous pear-shaped nose, clinobrachydactyly and… 
2001
2001
A nonsense mutation in TRPS1 in a Japanese family with tricho‐rhino‐phalangeal syndrome type I
To the Editor: Tricho-rhino-phalangeal syndrome type I (TRPS I, MIM190350) is an autosomal dominant skeletal disorder… 
1997
1997
A 4 Mb cryptic deletion associated with inv(8)(q13.1q24.11) in a patient with trichorhinophalangeal syndrome type I.
We report on an 11 year old girl with trichorhinophalangeal syndrome type I (TRPS1), postaxial polydactyly of the fingers, and a… 
1996
1996
Agenesis of the corpus callosum in Schinzel‐Giedion syndrome associated with 47, XXY karyotype
The Schinzel‐Giedion syndrome is a rare autosomal recessive condition with typical facial features, skeletal manifestations and… 
1996
1996
Tricho-rhino-phalangeal syndrome type I.
Tricho-rhino-phalangeal syndrome type I (TRPS I) is characterized by a bulbous nose, sparse hair and epiphyseal coning. Autosomal… 
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