short-rib thoracic dysplasia 10 with or without polydactyly

Short-Rib Thoracic Dysplasia 10 (SRTD10) with or without Polydactyly

Short-Rib Thoracic Dysplasia 10 (SRTD10) with or without polydactyly is a rare genetic disorder that affects the development of the thoracic cage and ribs. This condition is characterized by a constricted thoracic cage, short ribs, and sometimes polydactyly (extra fingers or toes).

Key Features:

• Constricted thoracic cage
• Shortened ribs
• Polydactyly may be present in some cases

Causes and Inheritance: SRTD10 is an autosomal recessive condition, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the disorder. The genetic basis of SRTD10 involves mutations in the IFT172 gene on chromosome 2p23.

References:

• [3] Short-rib thoracic dysplasia 10 with or without polydactyly is a group of autosomal recessive skeletal ciliopathies characterized by a constricted thoracic cage ...
• [9] An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.

Short-Rib Thoracic Dysplasia 10 (SRTD10) Signs and Symptoms

Short-rib thoracic dysplasia 10, also known as SRTD10, is a rare genetic disorder characterized by skeletal abnormalities. The signs and symptoms of SRTD10 can vary in severity and may include:

• Visual loss: This can be the presenting sign of Jeune syndrome, which is another name for short-rib thoracic dysplasia (SRTD) [3].
• Short ribs and narrow thorax: Individuals with SRTD10 often have short ribs and a narrow chest cavity, which can lead to breathing difficulties [4].
• Short limbs: Shortening of the limbs, particularly the upper limbs, is a common feature of SRTD10 [9].
• Abnormal acetabular roofs: The roofs of the hip bones (acetabula) may be horizontal and have an iliac notch called the "trident" sign, which is a characteristic feature of SRTD10 [4].
• Polydactyly: Some individuals with SRTD10 may also have extra fingers or toes (polydactyly), although this is not always present [5].

It's essential to note that the severity and specific signs and symptoms of SRTD10 can vary significantly from person to person. A thorough medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis.

References: [3] - Symptoms & Phenotypes for Short-Rib Thoracic Dysplasia 10 with or Without Polydactyly. [4] - Apr 20, 2018 — Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a ... [5] - Symptoms · rhizomelic limb shortening · micromelic short limbs · round-ended femur bones · small tibia · small fibula. [9] - Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a ...

Diagnostic Tests for Short-Rib Thoracic Dysplasia 10

Short-rib thoracic dysplasia 10 with or without polydactyly can be diagnosed through various genetic and clinical tests. Here are some of the diagnostic tests used to identify this condition:

• Clinical Molecular Genetics test: This test is specifically designed for Short-rib thoracic dysplasia 10 with or without polydactyly and involves sequence analysis of the entire coding region [3].
• Genetic testing: A genetic test can be used to diagnose short-rib thoracic dysplasia type 10 with or without polydactyly. The most common type of genetic test used is a sequence analysis of the IFT172 gene on chromosome 2p23 [4].
• Prenatal diagnosis: Genetic analysis and prenatal diagnosis are possible for short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants, which may also be relevant to short-rib thoracic dysplasia type 10 [6].

Clinical Features

In addition to these diagnostic tests, clinical features such as a narrow chest and other skeletal abnormalities can also indicate the presence of short-rib thoracic dysplasia 10 with or without polydactyly. A brainstem auditory evoked potential test may show no response to acoustic stimuli in some cases [10].

References

• [3] Clinical Molecular Genetics test for Short-rib thoracic dysplasia 10 with or without polydactyly and using Sequence analysis of the entire coding region.
• [4] An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT172 gene on chromosome 2p23.
• [6] Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants ...
• [10] Short-rib thoracic dysplasia 10 with or without polydactyly ... There was no response to acoustic stimuli and brainstem auditory evoked potential test showed no ...

Treatment Options for Short-Rib Thoracic Dysplasia 10

Short-rib thoracic dysplasia 10, also known as Jeune syndrome, is a rare genetic disorder characterized by a narrow chest and short ribs. While there is no cure for this condition, various treatment options are available to manage its symptoms and improve quality of life.

• Ursodeoxycholic acid: Treatment with ursodeoxycholic acid has been shown to be effective in improving liver function and reducing the risk of complications [1].
• Vertebral expansion surgery: In some cases, surgical intervention may be necessary to expand the chest cavity and improve breathing capacity. This can involve the use of a vertical, expandable prosthetic titanium rib (VEPTR) [8].
• Palliative care: Asphyxiating thoracic dystrophy is a progressive condition, and palliative care may become necessary as symptoms worsen. This involves managing pain and discomfort to improve quality of life.

It's essential to consult with a healthcare professional for personalized advice on treatment options and management strategies. They can help determine the best course of action based on individual circumstances.

References:

[1] Context 3: Treatment with ursodeoxycholic acid appeared to be effective in improving liver function. [8] Context 8: A vertical, expandable prosthetic titanium rib is a safe tool for the treatment of children with thoracic insufficiency syndrome.

Based on the search results, I was able to find relevant information on the differential diagnosis of short-rib thoracic dysplasia 10 with or without polydactyly.

The working differential diagnoses for short-rib thoracic dysplasia 10 with or without polydactyly include:

• Aneuploidy
• Congenital infections
• Achondroplasia/chondromalacia

These conditions may present with similar clinical features to short-rib thoracic dysplasia 10, and therefore should be considered in the differential diagnosis.

According to [10], "The working differential diagnoses included; aneuploidy, congenital infections and achondroplasia/chondromalacia. At this time, based on the ...".

It's worth noting that a definitive diagnosis of short-rib thoracic dysplasia 10 with or without polydactyly can only be made through genetic testing.

References: * [10] by L Lucia · 2018 — The working differential diagnoses included; aneuploidy, congenital infections and achondroplasia/chondromalacia. At this time, based on the ...