Definition

What is Trichorhinophalangeal syndrome type III?

Trichorhinophalangeal syndrome type III (TRPS3), also known as Sugio-Kajii syndrome, is an extremely rare inherited multisystem disorder. TRPS3 is characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses (the growing ends of bones), as well as severe generalized shortening of all finger and toe bones (brachydactyly).

How common is Trichorhinophalangeal syndrome type III?

Trichorhinophalangeal syndrome type III is an extremely rare disorder that, in theory, affects males and females in equal numbers. However, of the reported cases, most affected individuals have been female. Approximately 15 cases have been reported in the medical literature. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Trichorhinophalangeal syndrome type III?

The common symptoms of Trichorhinophalangeal syndrome type III are:

  • Thin hairs
  • Distinct facial features with a pear shaped nose
  • Abnormally short fingers and toes
  • Short stature
  • Osteochondritis or inflammation of the bone
  • Thoracic scoliosis
  • Abnormal prominence of the breast bone
  • Limited mobility of the joints
  • Abnormally broad hips

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Trichorhinophalangeal syndrome type III?

The root cause of Sugio-Kajii Syndrome or Trichorhinophalangeal Syndrome Type III is mutation of the gene TRPS1 which is located in the long arm of chromosome 8. This follows, as stated, autosomal dominant pattern of inheritance meaning that a single copy of the defective gene is enough for development of this syndrome in the child.

Risk factors

What increases my risk for Trichorhinophalangeal syndrome type III?

Please consult with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Trichorhinophalangeal syndrome type III diagnosed?

A diagnosis of trichrhinophalangeal syndome type III may be suspected based upon identification of characteristic physical features (e.g., fine, sparse hair; facial abnormalities; etc.).

The diagnosis may be confirmed by a thorough clinical evaluation, a detailed patient history, and X-ray studies of the skeleton that reveal severe shortening of bones in the hands and feet (i.e., metacarpals, metatarsals, and phalanges) and the abnormal development of the “growing ends” (epiphyses) of the phalangeal bones (epiphyseal coning).

How is Trichorhinophalangeal syndrome type III treated?

The treatment of Trichorhinophalangeal Syndrome Type III is basically symptomatic and supportive. The treatment requires a multidisciplinary approach with pediatricians, dentists, orthopod and other specialists all working together to formulate the best treatment strategy to make the patient as independent as possible and improve the quality of life of the patient.

Surgery for may be recommended to correct some of the skeletal deformities. Physical and occupational therapy may be of great benefit in improving the strength and mobility of the affected joint and give the patient a better quality of life.

Genetic counseling will be of benefit for affected individuals and their families.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Trichorhinophalangeal syndrome type III?

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group does not provide medical advice, diagnosis or treatment.

Sources

Review Date: February 22, 2018 | Last Modified: February 22, 2018

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