Sugio-Kajii Syndrome or Trichorhinophalangeal Syndrome Type III: Causes, Symptoms, Treatment, Diagnosis

Sugio-Kajii Syndrome, which is also known by the name of Trichorhinophalangeal Syndrome Type III, is a very rare form of multisystem disorder which is characterized by thin hairs, distinct facial features with a pear shaped nose, deformities of the fingers of the hands and toes and skeletal dysplasia as a result of underdevelopment of the bones, especially of the hands and feet.

Delayed eruption of teeth is also a sign of Sugio-Kajii Syndrome or Trichorhinophalangeal Syndrome Type III. Additionally individuals with Sugio-Kajii Syndrome tend to have extremely shortened fingers and toes as a result of underdevelopment of the bones in the hands and feet. Individuals with Sugio-Kajii Syndrome or Trichorhinophalangeal Syndrome Type III also are of short stature.

The degree of skeletal deformities in individuals with Sugio-Kajii Syndrome differs from individual to individual. This condition follows an autosomal dominant pattern of inheritance meaning that one copy of the defective gene from any parent is good enough for the child to develop Sugio-Kajii Syndrome or 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 Sugio-Kajii Syndrome in the child.

The symptoms of Sugio-Kajii Syndrome or Trichorhinophalangeal Syndrome Type III are quite variable both in features and severity. Some of the common symptoms of Sugio-Kajii Syndrome or Trichorhinophalangeal Syndrome Type III are thin hairs, distinct facial features with a pear shaped nose, abnormally short fingers and toes, short stature.

Some individuals tend to have osteochondritis or inflammation of the bone as a result of Sugio-Kajii Syndrome or Trichorhinophalangeal Syndrome Type III. Thoracic scoliosis is also a symptom of Sugio-Kajii Syndrome.

Individuals with Sugio-Kajii Syndrome or Trichorhinophalangeal Syndrome Type III also tend to have abnormal prominence of the breast bone and the mobility of their joints is also limited. It is also seen that some females affected by this condition tend to have abnormally broad hips as they age due to Sugio-Kajii Syndrome or Trichorhinophalangeal Syndrome Type III.

The characteristic physical features of Sugio-Kajii Syndrome or Trichorhinophalangeal Syndrome Type III are good enough to point towards a confirmatory diagnosis. Additional clinical evaluation may be done along with a detailed history of the patient and a family history to determine whether any other members of the family have similar symptoms to help confirm the diagnosis of Sugio-Kajii Syndrome or Trichorhinophalangeal Syndrome Type III.

Additionally, radiological studies in the form of x-rays or MRI or CT scans of the extremities tend to reveal skeletal deformities classic for this condition and thus confirming the diagnosis of Sugio-Kajii Syndrome or Trichorhinophalangeal Syndrome Type III.

The treatment of Sugio-Kajii Syndrome or 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 Sugio-Kajii Syndrome or Trichorhinophalangeal Syndrome Type III 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. Additionally genetic counseling is also of great value for the patient as well as the family in cases of Sugio-Kajii Syndrome or Sugio-Kajii Syndrome or Trichorhinophalangeal Syndrome Type III.