What is the definition of Trichorhinophalangeal Syndrome Type 1?

Trichorhinophalangeal syndrome type 1 (TRPS1) affects the face, bones, and other organs. The features and symptoms of TRPS1 include 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 TRPS1 may also have dental abnormalities; short, curved fingers; small hands and feet; and short stature. Overtime, people with TRPS1 can develop brittle bones, joint pain, and arthritis. Some people have heart, kidney, and genitourinary problems. The type and severity of symptoms may vary from person to person. TRPS1 is caused by genetic variants in the TRPS1 gene and is inherited in an autosomal dominant pattern. Diagnosis is based on the symptoms, clinical exam, imaging studies, and may be confirmed by the results of genetic testing. Treatment is focused on managing the symptoms and may include surgery and physical therapy.

What are the alternative names for Trichorhinophalangeal Syndrome Type 1?

  • TRPS1
  • Giedion syndrome

What are the causes for Trichorhinophalangeal Syndrome Type 1?

Trichorhinophalangeal syndrome, type 1 (TRPS1) occurs when the TRPS1 gene is not working correctly. DNA changes known as pathogenic variants are responsible for making genes work incorrectly or sometimes, not at all.  

What are the symptoms for Trichorhinophalangeal Syndrome Type 1?

The following list includes the most common signs and symptoms in people with trichorhinophalangeal syndrome, type 1 (TRPS1). These features may be different from person to person. Some people may have more symptoms than others, and they can range from mild to severe. This list does not include every symptom that has been described in the condition.

Symptoms of TRPS1 may include:
  • Sparse, thin hair
  • Rounded nose tip
  • Thick eyebrows
  • Long flat philtrum and thin upper lip
  • Dental abnormalities
  • Underdeveloped nails
  • Short, curved, abnormally positioned fingers
  • Hip abnormalities 
  • Short stature
Some people with TRPS1 also have heart, kidney, and genitourinary abnormalities.  Overtime, brittle bones (osteoporosis), joint pain, and arthritis may develop.

What are the current treatments for Trichorhinophalangeal Syndrome Type 1?

Treatment for trichorhinophalangeal syndrome, type 1 (TRPS1) is focused on managing the symptoms. Growth hormone treatment and medications for joint pain are options.

Specialists involved in the care of someone with TRPS1 may include:
  • Endocrinologist
  • Orthopedist
  • Dentist
  • Rheumatologist
  • Physical therapist

How is Trichorhinophalangeal Syndrome Type 1 diagnosed?

Trichorhinophalangeal syndrome, type 1 is diagnosed based on the symptoms, clinical exam, and imaging studies. The results of genetic testing may help confirm the diagnosis.

Is Trichorhinophalangeal Syndrome Type 1 an inherited disorder?

Trichorhinophalangeal syndrome, type 1 is inherited in an autosomal dominant pattern.  All individuals inherit two copies of each gene. Autosomal means the gene is found on one of the numbered chromosomes found in both sexes. Dominant means that only one pathogenic variant on one copy of a gene is necessary to have the condition. The variant can be inherited from either parent.  Sometimes an autosomal dominant condition occurs because of a new genetic variant (de novo) and there is no history of this condition in the family.
  
Each child of an individual with an autosomal dominant condition has a 50% or 1 in 2 chance of inheriting the variant and the condition. Typically, children who inherit a dominant variant will have the condition, but they may be more or less severely affected than their parent.  Sometimes a person may have a gene variant for an autosomal dominant condition and show no signs or symptoms of the condition.  

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