trichorhinophalangeal syndrome type II

Trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is a rare and extremely inherited multisystem disorder.

Characteristics:

• Intellectual deficit
• Multiple bony growths (exostoses)
• Characteristic facial features:
  • Thick eyebrows, especially in the middle [1]
  • Broad nose with broad nasal ridge and tip [3][11]
  • Underdeveloped alae [11]
  • Long philtrum [11]
  • Thin vermilion of the upper lip [11]
• Cone-shaped phalangeal epiphyses (the growing ends of the bones in the fingers) [6][7]
• Excess folds of skin
• Short stature and growth delay [1]

Other symptoms:

• Abnormalities of the skin, hair, teeth, sweat glands, and nails [10]
• Bone and joint malformations [8][12]

Causes:

• Contiguous gene deletion syndrome caused by changes in the zinc finger transcription factor TRPS1 and the exostosin 1 gene [5]

Trichorhinophalangeal syndrome type II (TRPS II) is a rare genetic disorder characterized by various physical and developmental abnormalities. The signs and symptoms of TRPS II can vary widely among individuals, even within the same family.

Physical Characteristics:

• Thick eyebrows
• Broad nose with a rounded tip
• Long, smooth area between the nose and upper lip (philtrum)
• Thin vermilion of the upper lip
• Sparse scalp hair with thin and brittle hair shafts
• Excess folds of skin
• Multiple bony growths (exostoses) on the bones

Skeletal Abnormalities:

• Cone-shaped epiphyses of the phalanges of the hands and short fingers and toes
• Fifth fingers are sometimes bent
• Skeletal abnormalities, including delayed motor and cognitive development

Intellectual Disability:

• Mild to moderate intellectual disability is a common feature of TRPS II
• Delayed motor and cognitive development may lead to difficulties in indicating joint problems

Other Abnormalities:

• Abnormalities of the skin, hair, teeth, sweat glands, and nails
• Winged scapulae (shoulder blades)
• Redundant skin
• Mental retardation (occasionally)

It's essential to note that the severity and symptoms of TRPS II can vary greatly among individuals, even within the same family. A healthcare professional may suspect TRPS based on characteristic physical signs and symptoms, but confirmation requires genetic testing to identify mutations in the TRPS1, EXT1, and RAD21 genes.

References:

• [4] The signs and symptoms of TRPS II are related to the loss of multiple genes on chromosome 8.
• [5] Winged scapulae, multiple cartilaginous exostoses, redundant skin, and mental retardation are distinctive characteristics of TRPS type II.
• [6] The characteristic appearance of individuals with TRPS II involves thick eyebrows; a broad nose with a rounded tip; a long, smooth area between the nose and upper lip (philtrum).
• [10] Trichorhinophalangeal syndrome type 2 (TRPS2), also known as Langer-Giedion syndrome, is an extremely rare inherited multisystem disorder.
• [13] Symptoms of Trichorhinophalangeal Syndrome. The symptoms of TRPS can vary widely among individuals, even among family members.

Diagnostic Tests for Trichorhinophalangeal Syndrome Type II

Trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is a rare genetic disorder that requires accurate diagnosis to ensure proper treatment and management. The following diagnostic tests are typically used to confirm the presence of TRPS2:

• Genetic Testing: Chromosomal microarray analysis is commonly used to detect deletions or mutations in the TRPS1 gene, which is associated with TRPS2 [6][9]. This test can identify contiguous gene deletions that cause TRPS2.
• Clinical Presentation: A thorough clinical examination by a healthcare professional is essential to identify characteristic features of TRPS2, such as intellectual deficit, excess folds of skin, multiple bony growths (exostoses), and cone-shaped phalangeal epiphyses [3][12].
• Imaging Studies: Radiographic imaging may be used to visualize the presence of exostoses or other skeletal abnormalities associated with TRPS2.

Key Points

• Genetic testing through chromosomal microarray analysis is a crucial diagnostic tool for confirming TRPS2.
• Clinical presentation

Treatment Options for Trichorhinophalangeal Syndrome Type II

Trichorhinophalangeal syndrome type II (TRPS2), also known as Langer-Giedion syndrome, is a rare genetic disorder that affects multiple systems in the body. While there is no cure for TRPS2, various treatment options can help manage its symptoms and improve quality of life.

• Supportive Care: Management of TRPS2 is primarily supportive, focusing on alleviating symptoms and preventing complications.
• Ectodermal Issues: For skin-related issues, such as excess folds of skin or hair growth problems, advice on hair care and skincare can be beneficial. Topical minoxidil treatment has been reported to improve hair density and length in some individuals with TRPS [10].
• Pain Management: Nonsteroidal anti-inflammatory drugs (NSAIDs) may help alleviate pain associated with bone abnormalities.
• Occupational Therapy: Occupational therapy (OT) can be helpful for individuals with TRPS2, particularly those with intellectual disability or developmental delays.

Important Note

It is essential to consult a qualified specialist, such as a geneticist or a pediatrician, for proper diagnosis and treatment of TRPS2. They will work with you to develop a personalized care plan tailored to your specific needs.

References:

[10] Choi et al (2024) - reported improvement in hair density and length with topical minoxidil treatment in one individual with TRPS. [12] Treatment of manifestations: Management is principally supportive. Ectodermal issues: advice about hair care ... • Trichorhinophalangeal syndrome II (Langer-Giedion syndrome) [13] Trichorhinophalangeal syndrome (TRPS) is characterized by its unique facial features and skeletal abnormalities. [14] Integrated disease information for Trichorhinophalangeal Syndrome, Type Ii including associated genes, mutations, phenotypes, pathways, drugs, ...