obsolete trichorhinophalangeal syndrome I

Obsolete Trichorhinophalangeal Syndrome Type 1 (TRPS I) Description

Trichorhinophalangeal syndromes (TRPS) type 1 and 3 are malformation syndromes characterized by short stature, sparse hair, a bulbous nasal tip and cone-shaped epiphyses of the phalanges [6]. This condition is also known as tricho-rhino-phalangeal syndrome type I (TRPSI), which is a rare autosomal dominant hereditary disorder [14].

The distinctive facial features of TRPS I include a large nose with broad nasal ridge and a bulbous nasal tip, elongated philtrum, thin upper lip, and sparse hair [1]. Individuals with this condition may also experience bone deformities, particularly cone-shaped epiphyses of the phalanges [9].

It's worth noting that the term "TRPS I" has been used to refer to a severe form of type 1 with pronounced facial characteristics, which is now considered obsolete and replaced by more specific descriptions [7].

Trichorhinophalangeal Syndrome Type I (TRPS I): A Rare Genetic Disorder

Trichorhinophalangeal Syndrome Type I (TRPS I) is a rare congenital disorder characterized by distinctive craniofacial, ectodermal, and skeletal abnormalities. The symptoms of TRPS I can vary widely among individuals, even among family members.

Common Features:

• Sparse Hair: One of the hallmark features of TRPS I is sparse, thin scalp hair [1][7].
• Unusual Facial Features: Individuals with TRPS I often have distinctive facial features, including a bulbous nasal tip and long philtrum [6][8].
• Abnormalities of the Fingers and Toes: TRPS I is also characterized by abnormalities of the fingers and toes, including short deformed fingers [3][5].
• Skeletal Malformations: The condition can also lead to skeletal malformations, including short stature [1][7].

Other Symptoms:

• Abnormalities of the Skin, Hair, Teeth, Sweat Glands, and Nails: TRPS I can also cause abnormalities in these areas [13].
• Bone and Joint Malformations: The condition is associated with bone and joint malformations [13].

It's worth noting that while some sources may refer to TRPS I as an "obsolete" syndrome, it is still a recognized genetic disorder. However, the exact prevalence and characteristics of the condition may have evolved over time.

References:

[1] by L Merjaneh · 2014 · Cited by 28 — [3] by S Maas · 1993 · Cited by 27 — [5] Oct 22, 2024 — [6] by YB Sohn · 2012 · Cited by 24 — [7] by L Merjaneh · 2014 · Cited by 28 — [8] by S Maas · 2017 · Cited by 27 — [13]

Based on the provided context, it appears that diagnostic tests for Trichorhinophalangeal Syndrome Type I (TRPSI) have evolved over time.

Changes in Diagnostic Tests

According to search result [9], Mayo Clinic Laboratories announced changes in their tests and reference values in June 2022. However, there is no specific information on obsolete diagnostic tests for TRPSI.

Molecular Genetic Testing

Search results [5] and [11] mention that molecular genetic testing is not always required to make a diagnosis of TRPSI, as the phenotype (physical characteristics) can be distinct and noticeable. When molecular confirmation is needed, single-gene testing may be performed.

Clinical Presentation and Diagnosis

Search result [12] states that the identification of specific missense mutations can support the diagnosis of TRPSI. However, it does not provide information on obsolete diagnostic tests.

Current Diagnostic Approaches

There is no clear indication in the provided context that any specific diagnostic test for TRPSI has been rendered obsolete. The current approaches to diagnosing TRPSI seem to focus on clinical presentation and molecular genetic testing when necessary.

In summary, while there may have been changes in laboratory tests and reference values, there is limited information available on obsolete diagnostic tests specifically for Trichorhinophalangeal Syndrome Type I (TRPSI).

References: [5], [9], [11], [12]

Based on the available information, it appears that there are some treatment options for Trichorhinophalangeal Syndrome Type 1 (TRPS I), although they may not be considered "drug treatments" in the classical sense.

• Topical minoxidil treatment has been reported to improve hair density and length in one individual with TRPS [2]. However, this is a case report and more research is needed to confirm its effectiveness.
• Regular simple analgesics (such as NSAIDs) may be used to treat joint pain associated with TRPS I [4].
• Prosthetic hip implantation should be considered in individuals with severe hip deformities due to TRPS I [4].

It's worth noting that there is no curative treatment for TRPS, and management is centered around supportive care [5]. However, a correct diagnosis is essential to perform all the necessary supportive care.

Additionally, growth hormone (GH) therapy has been shown to be effective in some cases of TRPS I, with eight cases showing a good response to rhGH therapy and five of them having elevated IGF-1 levels [9].

It's also mentioned that there are medical treatment options available for TRPS I, although the specific details are not provided [10].

The differential diagnosis for Trichorhinophalangeal Syndrome Type I (TRPS I) involves considering other disorders that present with similar clinical features.

• Disorders with abnormalities of the hair, nose, and limbs should be considered in the differential diagnosis of TRPS [3].
• The differential diagnosis of TRPS includes conditions such as Albright hereditary osteodystrophy (AHO), which is characterized by short stature, skeletal abnormalities, and cone-shaped epiphyses in the fingers and toes [8].
• Other disorders that may present with similar clinical features to TRPS I include phenotypes suggestive of AHO with parathyroid hormone (PTH) resistance [7].

It's worth noting that a definitive diagnosis of TRPS can be established through genetic testing, which can confirm the presence of mutations in the TRPS1 gene.

References: [3] - S Maas · 1993 · Cited by 27 [7] - Clinical evaluation initially suggested the diagnosis of PHP-Ia [phenotype suggestive of Albright hereditary osteodystrophy (AHO) with parathyroid hormone (PTH) ... [8] - Individuals with TRPS type I often have short stature and skeletal abnormalities including cone-shaped epiphyses in the fingers and toes.