Tricho-rhino-phalangeal syndrome Type 1

Signs and symptoms

Individuals with TRPS I typically present with hair, facial features, and skeletal abnormalities. Hair abnormalities include sparse, thin, and slow-growing scalp hair. Distinctive facial characteristics include thick eyebrows, a broad nose with a rounded tip, large, protruding ears, a long, smooth philtrum, a thin upper lip, and small teeth that may be either reduced or increased in number. Individuals affected with the disorders also typically exhibit short stature, brachydactyly (short fingers and toes), cone-shaped epiphyses, hip dysplasia, and other bone deformities.

Cause and diagnosis

TRPS I is caused by heterozygous pathogenic variants in the TRPS1 gene, which plays a role in the development of various tissues. The condition follows an autosomal dominant inheritance pattern, meaning a single copy of the altered gene can cause the disorder. Diagnosis is based on clinical evaluation, identification of characteristic physical features, and radiographic findings. Genetic testing can confirm mutations in the TRPS1 gene.

Management

Treatment of TRPS I is symptomatic and supportive, involving a multidisciplinary approach including orthopedic Interventions to address skeletal deformities and improve mobility; dermatological care to manage hair abnormalities including topical minoxidil which has shown improvement in hair density and length. Other management approaches include endocrinological support to monitor growth and development, recombinant human growth hormone therapy has been used to improve height outcomes. Dental anomalies such as hypodontia or supernumerary teeth can also be addressed with appropriate orthodontic options.

References

References

1. (November 2018). "An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature". Italian Journal of Pediatrics.
2. (May 2023). "Trichorhinophalangeal syndrome type 1 (Giedion syndrome): A case report with literature review". Reumatología Clínica.
3. "Trichorhinophalangeal Syndrome Type I - Symptoms, Causes, Treatment {{!}} NORD".
4. (1993). "GeneReviews®". University of Washington, Seattle.
5. (2019). "Trichorhinophalangeal syndrome as a diagnostic and therapeutic challenge for paediatric endocrinologists". Pediatric Endocrinology, Diabetes, and Metabolism.
6. (2024). "Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1". Pediatric Dermatology.
7. (September 2022). "Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report". Children.