Trichorhinophalangeal syndrome type I (TRPS I) is a condition that causes bone and joint malformations; distinctive facial features; and abnormalities of the skin, hair, teeth, sweat glands, and …

Apr 20, 2017 · Trichorhinophalangeal syndrome (TRPS) comprises TRPS I (caused by a heterozygous pathogenic variant in TRPS1) and TRPS II (caused by contiguous gene deletion of TRPS1, RAD21, …

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Jul 20, 2025 · Trichorhinophalangeal syndrome, or TRPS, is an uncommon genetic condition that influences the development of bones and cartilage, leading to distinct physical characteristics. The …

May 10, 2016 · Trichorhinophalangeal syndrome type I (TRPS1) is an autosomal dominant malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities. TRPS I patients have …

Trichorhinophalangeal Syndrome Type I (TRPS I) is a rare genetic disorder characterized by distinctive craniofacial and skeletal abnormalities. The name reflects the primary features: "tricho" refers to hair, …

Sep 10, 2024 · Trichorhinophalangeal syndrome type I (TRPS1) is a very rare genetic disorder that affects many organs of the body.

Learn about the symptoms and diagnosis of trichorhinophalangeal syndrome, type 1 (TRPS1), a rare condition that can be detected with genetic testing.

Jun 1, 2024 · Tricho-rhino-phalangeal syndrome (TRPS) is a rare malformation syndrome characterized by distinctive facial, ectodermal, and skeletal features. TRPS is divided into TRPS type I/III caused …

Mar 21, 2024 · Each child of an individual with TRPS has a 50% chance of inheriting the TRPS-related genetic alteration. Once the TRPS-related genetic alteration has been identified in an affected family …