Image for Trichorhinophalangeal syndrome type I
Trichorhinophalangeal syndrome type I

Related Terms

  • Content available for subscribers only.

Background

  • Trichorhinophalangeal syndrome type I (TRPS I) is a form of ectodermal dysplasia, one of a group of disorders deriving from prenatal abnormalities of the ectodermal structures, such as hair, teeth, nails, and sweat glands.
  • Trichorhinophalangeal syndrome type I is an extremely rare inherited multisystem disorder characterized by thin, sparse scalp hair, distinctive facial features, abnormalities of the fingers and toes, and skeletal dysplasia (multiple abnormalities of the "growing ends" of the bones). Characteristic facial features may include a rounded pear-shaped nose, an abnormally small jaw, dental anomalies, and unusually large ears. Individuals with TRPS may be slow to develop communication skills. There are three known types (I, II, and III) of trichorhinophalangeal syndrome.
  • TRPS I is marked by abnormalities of the bones and mild growth retardation. Bone problems may include cone-shaped bones in the fingers and toes, hip problems, and short stature. These features are typically detected later in childhood. Individuals with TRPS I tend to be of average intelligence.
  • TRPS I is passed down among family members. It is caused by a mutation or defect in the TRPS1 gene. The TRPS1 gene encodes the TRPS I protein and has been identified as a transcription factor, with two alternative transcripts, and is expressed in the fetal brain and kidney, and in the adult heart, brain, placenta, lung, liver, skeletal muscle, and pancreas.
  • Further content available for subscribers only.

Risk Factors

  • Content available for subscribers only.

Causes

  • Content available for subscribers only.

Types of the Disease

  • Content available for subscribers only.

Signs and Symptoms

  • Content available for subscribers only.

Diagnosis

  • Content available for subscribers only.

Complications

  • Content available for subscribers only.

Treatment

  • Content available for subscribers only.

Integrative Therapies

  • Content available for subscribers only.

Prevention

  • Content available for subscribers only.

Author Information

  • Content available for subscribers only.

References

Natural Standard developed the above evidence-based information based on a thorough systematic review of the available scientific articles. For comprehensive information about alternative and complementary therapies on the professional level, go to www.naturalstandard.com. Selected references are listed below.

  • Content available for subscribers only.
The information in this monograph is intended for informational purposes only, and is meant to help users better understand health concerns. Information is based on review of scientific research data, historical practice patterns, and clinical experience. This information should not be interpreted as specific medical advice. Users should consult with a qualified healthcare provider for specific questions regarding therapies, diagnosis and/or health conditions, prior to making therapeutic decisions.