Table 6.

Trichorhinophalangeal Syndrome: Treatment of Manifestations

Manifestation/ConcernTreatmentConsiderations/Other
Sparse hair
  • Practical advice on hair care & use of wigs
  • Topical minoxidil treatment & hair transplantation may be useful. 1
Dental Extraction of supernumerary teeth can be considered.
Short stature Human GH therapy may be considered in those w/short stature & proven GH deficiency. 2Results of treatment vary. Although some persons have accelerated growth w/GH treatment, some do not show ↑ growth velocity despite GH treatment.
Limited mobility of digits
  • OT can be beneficial for fine motor impairment.
  • Mechanical aids such as electric can openers may ameliorate problems caused by joint anomalies.
In a single report resection arthrodesis w/tension band osteosynthesis stabilized painful ulnar dislocation of the proximal interphalangeal joints in digits w/cone-shaped epiphyses. 3 Of note, no follow-up or other similar reports are available.
Hip dysplasia
  • Analgesics (e.g., NSAIDs or other non-opioids)
  • Physiotherapy can help relieve pain & maintain hip range of motion.
  • Encourage regular exercise.
  • Support w/mobility at school & work as needed
High-impact or contact sports may pose a risk to those w/impaired mobility.
Prosthetic hip implantation should be considered in those w/severe hip dysplasia.Prosthetic hip implantation may be required as early as age 30 yrs. Such prostheses may require multiple revisions due to their limited life span. Obtaining functional improvement through prosthetic joint surgery can be challenging given the presence of damage to other joints, either in the form of TRPS-related osteoarthritis-like changes or secondary to long-term compensatory stress.
Osteopenia
  • Recommendations for sunlight exposure
  • Ensure adequate dietary intake of calcium & vitamin D &/or calcium & vitamin D supplementation.
  • Modify activities to prevent fractures.
  • Consider bisphosphonates.
Osteochondromas (assoc w/TRPS II) For osteochondromas assoc w/pain, restricted range of motion, or nerve compression, resection should be considered.See Hereditary Multiple Osteochondromas.
Intellectual disability (assoc w/TRPS II) Developmental support & educational services
Cardiac anomalies Treatment per cardiologist
Psychosocial Peer support & (if indicated) psychological counseling for persons who are self-conscious about their physical differences

GH = growth hormone; NSAIDs = nonsteroidal anti-inflammatory drugs; OT = occupational therapy; TRPS = trichorhinophalangeal syndrome

1.

Topical minoxidil treatment was reported to improve hair density and length in one individual with TRPS [Choi et al 2024]; however, generalized hypertrichosis was also reported in one individual after nine months of minoxidil treatment [Shin et al 2023]. Hair transplantation was performed successfully in one individual [Choi et al 2018].

2.

When the growth pattern of a child with TRPS is below the normal range for age and sex and is of concern to the family, growth hormone (GH) stimulation tests can be performed. If the result is subnormal, GH therapy may be considered [Marques et al 2015, Huang et al 2022a] despite reported variable results.

3.

From: Trichorhinophalangeal Syndrome

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