trichorhinophalangeal syndrome type III

Trichorhinophalangeal syndrome type III (TRPS3) is a rare genetic disorder characterized by craniofacial and skeletal abnormalities.

Common features of TRPS3:

• Fine, thin light-colored hair [4]
• Unusual facial features [4]
• Abnormalities of the fingers and/or toes [4]
• Multiple dental anomalies, including supernumerary teeth [3]

Other characteristics:

• Sparse, slowly growing scalp hair [1], [8]
• Laterally sparse eyebrows [7]
• Bulbous tip of the nose [7]
• Protruding ears [7]
• Short stature and short metacarpals (short fingers) [2], [6]

TRPS3 is an autosomal dominant disorder, meaning that a single copy of the mutated gene is enough to cause the condition. It is allelic with other types of trichorhinophalangeal syndrome, such as TRPS1 and TRPS2.

References: [1] - Context result 8 [2] - Context result 6 [3] - Context result 3 [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [7] - Context result 7 [8] - Context result 8

Trichorhinophalangeal syndrome type III (TRPS3) is a rare genetic disorder characterized by several distinct signs and symptoms. Some of the key features include:

• Fine, brittle, thin light-colored hair: Individuals with TRPS3 often have sparse, slowly growing scalp hair that is fine and light in color [1].
• Beaked nose: A distinctive feature of TRPS3 is a beaked or pointed nose tip [3].
• Severe brachydactyly: This condition is characterized by short fingers and toes, with the hands and feet being disproportionately small compared to the rest of the body [3].
• Short stature: Individuals with TRPS3 often experience slow growth during childhood, leading to short stature as adults [4].
• Sparse eyebrows: Another common feature of TRPS3 is sparse or thin eyebrows [7].
• Protruding ears: Some individuals with TRPS3 may have protruding ears, which can be a noticeable characteristic [8].

It's worth noting that the severity and presentation of these symptoms can vary widely among affected individuals. In some cases, additional features such as intellectual disability, bone and joint malformations, or other systemic abnormalities may also occur.

References: [1] - Context result 1 [3] - Context result 3 [4] - Context result 4 [7] - Context result 7 [8] - Context result 8

Diagnostic Tests for Trichorhinophalangeal Syndrome Type III

Trichorhinophalangeal syndrome type III (TRPS III) is a rare genetic disorder characterized by severe brachydactyly, short metacarpals, and other distinctive physical features. Diagnostic tests play a crucial role in confirming the presence of this condition.

Genetic Testing

According to search results [1], genetic testing with sequencing technology is used to confirm the diagnosis of TRPS III. This involves analyzing the genes associated with the condition, particularly the TRPS1 gene [2]. The test can be performed using various techniques, including exome-based NextGen sequencing with CNV analysis [3].

Clinical Presentation

The clinical presentation of TRPS III is a key factor in suspecting this condition. A thorough history-taking and physical examination by pediatricians or healthcare professionals can help identify the characteristic features of TRPS III [7]. However, differential diagnosis must be considered to rule out other conditions with similar symptoms.

Diagnostic Approach

The diagnostic approach for TRPS III typically involves a combination of clinical evaluation and genetic testing. According to search results [6], the diagnosis is feasible for pediatricians using information obtained from history-taking and physical examination. Genetic testing can confirm the presence of mutations in the TRPS1 gene, establishing a genotype-phenotype correlation.

References

• [1] Clinical Genetic Test offered by Praxis fuer Humangenetik Wien for conditions (1): Trichorhinophalangeal syndrome, type III; Testing genes (1): TRPS1 ...
• [2] A trichorhinophalangeal syndrome caused by mutations in TRPS1 characterized by the presence of severe brachydactyly, due to short metacarpals, and severe.
• [3] Integrated disease information for Trichorhinophalangeal Syndrome, Type Iii including associated genes, mutations, phenotypes, pathways, drugs, ...
• [6] Diagnosis is typically suspected on clinical presentation and confirmed by genetic testing with sequencing technology. Differential diagnosis. The differential...
• [7] Thus, the diagnosis of TRPS is feasible for paediatricians, as it can be reached with the information obtained in the history-taking and physical examination...

Based on the provided context, it appears that there is limited information available on the specific treatment of trichorhinophalangeal syndrome type III (TRPS III). However, I can provide some general information on the management and supportive care for TRPS.

• Supportive Care: The management of TRPS is centered upon supportive care [7]. This may include regular simple analgesics, such as NSAIDs, to treat joint pain [4].
• Growth Hormone (GH) Therapy: There is some evidence suggesting that GH therapy may benefit children with growth hormone deficiency and TRPS, improving epiphysis status and height [1][8].
• Topical Minoxidil Treatment: A study in 2024 found successful topical minoxidil treatment for hair density and length in trichorhinophalangeal syndrome type I (TRPS I) [3]. However, it is unclear if this treatment would be effective for TRPS III.
• Prosthetic Hip Implantation: In individuals with severe hip joint pain, prosthetic hip implantation should be considered [4].

It's essential to note that the information available on TRPS type III is limited, and more research is needed to determine the most effective treatment options. Consultation with a medical professional or a genetic counselor would be necessary for personalized advice.

References: [1] Context 1 [3] Context 3 [4] Context 4 [7] Context 7

Differential Diagnosis of Trichorhinophalangeal Syndrome Type III

Trichorhinophalangeal syndrome (TRPS) type III is a rare genetic disorder characterized by severe short stature, shortening of the limbs, and other skeletal abnormalities. When diagnosing TRPS type III, it's essential to consider differential diagnoses that may present with similar symptoms.

Other Disorders to Consider:

• Trichorhinophalangeal syndrome types I and II: These conditions share some similarities with TRPS type III but have distinct clinical features.
• Skeletal dysplasias: Other rare genetic disorders, such as osteogenesis imperfecta or achondroplasia, may present with similar skeletal abnormalities.
• Ectodermal dysplasias: Conditions like ectrodactyly or split-hand/split-foot malformation can have overlapping features with TRPS type III.

Key Features to Distinguish:

When differentiating TRPS type III from other conditions, the following characteristics are crucial:

• Short stature and limb shortening: These are hallmark features of TRPS type III.
• Skeletal abnormalities: Radiological findings may include characteristic changes in bone shape and structure.
• Ectodermal manifestations: Sparse hair, bulbous nasal tip, and other ectodermal anomalies can be present.

Genetic Analysis:

In some cases, genetic analysis may be necessary to confirm the diagnosis of TRPS type III. This involves identifying pathogenic variants in the TRPS1 gene or other relevant genes.

Clinical and Radiological Findings:

A thorough clinical evaluation, combined with radiological imaging, is essential for accurate diagnosis. This includes assessing growth patterns, limb length, and skeletal abnormalities.

Differential Diagnosis Summary:

In summary, when diagnosing trichorhinophalangeal syndrome type III, it's crucial to consider differential diagnoses that may present with similar symptoms. By carefully evaluating clinical features, radiological findings, and genetic analysis, healthcare professionals can accurately diagnose this rare condition.

References:

• [1] by PH Itin · 1996 · Cited by 23 — This symptom complex is inherited as an autosomal dominant trait and clinically characterized by growth retardation, craniofacial abnormalities, severe ...
• [3] by M Vaccaro · 2017 · Cited by 8 — The diagnosis of the different types of TRPS is based on clinical and radiological findings, eventually integrated by genetic analysis, particularly useful in ...
• [5] by M Vaccaro · 2017 · Cited by 8 — The diagnosis of the different types of TRPS is based on clinical and radiological findings, eventually integrated by genetic analysis, particularly useful in ...
• [13] Differential has multiple meanings in mathematics, science, technology, social sciences, medicine and other fields. Learn about the different types and uses of differential, such as in calculus, geometry, mechanics, cryptography, diagnosis and more.