Tricho-rhino-phalangeal syndrome Type 1
| Tricho-rhino-phalangeal syndrome Type 1 | |
|---|---|
| Other names | TRPS I, Trichorhinophalangeal dysplasia type 1/3, Giedion syndrome |
| Specialty | Medical genetics, Orthopedics |
| Symptoms | Sparse and thin hair, bulbous nose tip, short stature, brachydactyly, cone-shaped epiphyses, joint abnormalities, distinctive facial features |
| Complications | Hip dysplasia, joint degeneration, excessive sweating |
| Usual onset | Congenital |
| Duration | Lifelong |
| Causes | mutation in the TRPS1 gene |
| Diagnostic method | Clinical examination, genetic testing |
| Treatment | Supportive care, orthopedic interventions |
| Prognosis | Variable |
| Frequency | Rare, exact prevalence unknown |
Trichorhinophalangeal Syndrome Type I (TRPS I) is a rare genetic disorder characterized by distinctive craniofacial and skeletal abnormalities. The name reflects the primary features: "tricho" refers to hair, "rhino" to the nose, and "phalangeal" to the fingers and toes.[1][2]
Signs and symptoms
[edit]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 typicall exhibit short stature, brachydactyly (short fingers and toes), cone-shaped epiphyses, hip dysplasia, and other bone deformities.[3]
Cause and diagnosis
[edit]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.[4]
Management
[edit]Treatment of TRPS I is symptomatic and supportive, involving a multidisciplinary approach including orthopedic Interventions to address skeletal deformities and improve mobility;[5] dermatological care to manage hair abnormalities including topical minoxidil which has shown improvement in hair density and length.[6] Other management approaches include endocrinological support to monitor growth and development, recombinant human growth hormone therapy has been used to improve height outcomes.[7] Dental anomalies such as hypodontia or supernumerary teeth can also be addressed with appropriate orthodontic options.[2]
References
[edit]- ^ Trippella G, Lionetti P, Naldini S, Peluso F, Monica MD, Stagi S (November 2018). "An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature". Italian Journal of Pediatrics. 44 (1): 138. doi:10.1186/s13052-018-0580-z. PMC 6245908. PMID 30458885.
- ^ a b Avağ C, Adiloğlu S, Akkocaoğlu M (May 2023). "Trichorhinophalangeal syndrome type 1 (Giedion syndrome): A case report with literature review". Reumatología Clínica (in Spanish). 19 (5): 285–289. doi:10.1016/j.reuma.2022.08.006. ISSN 1699-258X. PMID 37147064.
- ^ "Trichorhinophalangeal Syndrome Type I - Symptoms, Causes, Treatment | NORD". rarediseases.org. Retrieved 2025-03-27.
- ^ Tüysüz B, Güneş N, Alkaya DU (1993). "Trichorhinophalangeal Syndrome". In Adam MP, Feldman J, Mirzaa GM, Pagon RA (eds.). GeneReviews®. Seattle (WA): University of Washington, Seattle. PMID 28426188. Retrieved 2025-03-27.
- ^ Foryś-Dworniczak E, Zajdel-Cwynar O, Kalina-Faska B, Małecka-Tendera E, Matusik P (2019). "Trichorhinophalangeal syndrome as a diagnostic and therapeutic challenge for paediatric endocrinologists". Pediatric Endocrinology, Diabetes, and Metabolism. 25 (1): 41–47. doi:10.5114/pedm.2019.84708. PMID 31343132.
- ^ Choi M, Han A, Eichenfield LF (2024). "Successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type 1". Pediatric Dermatology. 41 (2): 366–368. doi:10.1111/pde.15509. PMID 38193387.
- ^ Huang D, Zhao J, Xia FL, Zou CC (September 2022). "Recombinant Human Growth Hormone Therapy for Childhood Trichorhinophalangeal Syndrome Type I: A Case Report". Children. 9 (10): 1447. doi:10.3390/children9101447. PMC 9600025. PMID 36291383.
- Trichorhinophalangeal syndrome type 1 at NIH's Office of Rare Diseases