short-rib thoracic dysplasia 19 with or without polydactyly

Short-Rib Thoracic Dysplasia 19 with or without Polydactyly: A Rare Skeletal Disorder

Short-rib thoracic dysplasia 19 with or without polydactyly is a rare autosomal recessive skeletal ciliopathy characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof [2][3]. This condition is part of a group of disorders known as short-rib polydactyly syndromes (SRPSs), which are caused by ciliary dysfunction and genetic mutations [7].

Key Features:

• Constricted thoracic cage
• Short ribs
• Shortened tubular bones
• 'Trident' appearance of the acetabular roof
• Polydactyly may be variably present

Non-Skeletal Involvement:

In addition to skeletal abnormalities, short-rib thoracic dysplasia 19 with or without polydactyly can also involve non-skeletal systems, including:

• Cleft lip/palate
• Anomalies of major organs such as the brain, eye, heart, kidneys, liver, and others

Clinical Features:

This condition is often associated with lethality due to pulmonary hypoplasia and respiratory compromise [13]. Visceral abnormalities are commonly seen in the neurologic, cardiac, gastrointestinal, and genitourinary systems, further complicating outcomes.

Genetic Basis:

Short-rib thoracic dysplasia 19 with or without polydactyly is caused by mutations in the IFT81 gene [15]. This genetic mutation leads to ciliary dysfunction, which in turn causes the characteristic skeletal and non-skeletal abnormalities associated with this condition.

Short-Rib Thoracic Dysplasia (SRTD) 19: Signs and Symptoms

Short-rib thoracic dysplasia (SRTD) 19, also known as SRTD with or without polydactyly, is a rare genetic disorder characterized by a range of physical abnormalities. The signs and symptoms of this condition can vary in severity and may include:

• Respiratory problems: Individuals with SRTD 19 often experience breathing difficulties due to the narrow chest and short ribs [1].
• Shortened bones: Shortened bones in the arms and legs, as well as unusually shaped pelvic bones, are common features of this condition [6].
• Polydactyly: Extra fingers and/or toes may be present in some cases [3][6].
• Intellectual disability: Some individuals with SRTD 19 may experience intellectual disability or delayed development [8].
• Nystagmus: Abnormal eye movements, known as nystagmus, can occur in some cases [8].
• Depressed nasal bridge: A depressed nasal bridge is a common feature of this condition [8].

Other potential symptoms

In addition to the above-mentioned signs and symptoms, individuals with SRTD 19 may also experience:

• Anomalies of the brain, eye, genitalia, heart, intestines, kidney, liver, and pancreas [9].
• Shortened bones in other parts of the body.

References:

[1] Context result 3 [3] Context result 2 [6] Context result 6 [8] Context result 8

Based on the search results, it appears that diagnostic tests for short-rib thoracic dysplasia 19 with or without polydactyly are available.

According to search result [10], a clinical resource provides information about Short-rib thoracic dysplasia 19 with or without polydactyly and its clinical features. This resource also lists available genetic tests from the US and labs around the world, as well as links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, clinicaltrials.gov, and PharmGKB.

Additionally, search result [8] mentions that genetic analysis is recommended for individuals with a personal and/or family history of this disorder to ensure a molecular diagnosis. This suggests that genetic testing may be a diagnostic tool for short-rib thoracic dysplasia 19 with or without polydactyly.

Furthermore, search result [5] lists Clinical Genetic Test offered by CeGaT GmbH for conditions (8), which includes Short-rib thoracic dysplasia 8 with or without polydactyly. While this is not specifically for short-rib thoracic dysplasia 19 with or without polydactyly, it suggests that genetic testing may be available for related conditions.

It's worth noting that search result [3] states that the information provided on this page is for informational purposes only and does not endorse any specific diagnostic tests. However, based on the other search results, it appears that diagnostic tests are available for short-rib thoracic dysplasia 19 with or without polydactyly.

Therefore, the answer to your question is:

Diagnostic tests for short-rib thoracic dysplasia 19 with or without polydactyly include genetic analysis and may be available through clinical resources such as [10] and genetic testing labs listed in [8].

Treatment Options for Short-Rib Thoracic Dysplasia 19

Short-rib thoracic dysplasia 19, 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.

Medications

One potential treatment option for short-rib thoracic dysplasia 19 is the use of medications such as ursodeoxycholic acid (UDCA). Research suggests that UDCA may help alleviate some symptoms associated with this condition, although more studies are needed to confirm its effectiveness [1][2].

Surgical Interventions

In some cases, surgical interventions may be necessary to address specific complications or symptoms related to short-rib thoracic dysplasia 19. For example, a vertical, expandable prosthetic titanium rib (VEPTR) may be used to treat children with thoracic insufficiency syndrome [3]. The goal of such procedures is to provide acute increase in chest volume and sufficient respiratory function.

Orphan Drugs

Short-rib polydactyly syndrome, Jeune syndrome, or short-rib thoracic dysplasia 19 are considered rare diseases. As a result, orphan drugs specifically developed for these conditions may be available [4]. These medications are designed to address the unique needs of patients with rare genetic disorders.

Surgical Treatment

The primary principle guiding surgical treatment for short-rib thoracic dysplasia 19 is to provide acute increase in chest volume and sufficient respiratory function. The specific approach will depend on individual case findings, but surgery may be necessary to manage complications or alleviate symptoms [5].

Please consult with a healthcare professional for personalized medical advice and treatment.

References:

[1] Context result 2: Treatment with ursodeoxycholic acid appeared to improve some symptoms associated with short-rib thoracic dysplasia 19. [2] Context result 4: Consultation with a healthcare professional is recommended for medical advice and treatment of short-rib thoracic dysplasia 19. [3] Context result 8: A vertical, expandable prosthetic titanium rib may be used to treat children with thoracic insufficiency syndrome. [4] Context result 9: Orphan drugs are developed specifically for the treatment of rare diseases, including short-rib polydactyly syndrome and Jeune syndrome. [5] Context result 10: Surgical treatment is guided by individual case findings, aiming to provide acute increase in chest volume and sufficient respiratory function.

Short-rib thoracic dysplasia 19 with or without polydactyly is a rare genetic disorder characterized by a constricted thoracic cage and short ribs. When it comes to differential diagnosis, several conditions need to be considered.

• Asphyxiating Thoracic Dystrophy: This condition, also known as Jeune syndrome, shares similar characteristics with short-rib thoracic dysplasia 19, including a narrow chest and short ribs. However, hexadactyly of the fingers is more common in asphyxiating thoracic dystrophy than in short-rib thoracic dysplasia 19 [6].
• Short Rib-Polydactyly Syndrome: This syndrome can be difficult to differentiate from short-rib thoracic dysplasia 19, especially when considering the dimensions of the thorax and neonatal survival time. However, polydactyly is more common in short rib-polydactyly syndrome than in short-rib thoracic dysplasia 19 [7].
• Thoracolaryngopelvic Dysplasia: This condition involves a combination of skeletal and soft tissue abnormalities, including a narrow chest. While it shares some similarities with short-rib thoracic dysplasia 19, the presence of laryngeal and pelvic anomalies can help differentiate between the two conditions.
• Metaphyseal Chondrodysplasia: This condition is characterized by abnormal growth of cartilage in the metaphyses of long bones. While it does not directly involve the thoracic cage, it can be considered in the differential diagnosis for short-rib thoracic dysplasia 19 due to its association with skeletal abnormalities [2].

It's essential to note that a comprehensive evaluation and diagnostic workup are necessary to accurately diagnose short-rib thoracic dysplasia 19 with or without polydactyly. A multidisciplinary team of healthcare professionals, including geneticists, radiologists, and pediatricians, should be involved in the diagnosis and management of this condition.

References: [1] - Not applicable [2] by P Campeau · 2017 · Cited by 3 — Short-ribs dysplasias (with or without polydactyly) group. [6] by PS Jutur · 2010 · Cited by 8 — It includes Ellis-van Creveld syndrome (EVC), Jeune syndrome, short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly may be ... [7] by PS Jutur · 2010 · Cited by 8 — There are four ... [2] by P Campeau · 2017 · Cited by 3 — Short-ribs dysplasias (with or without polydactyly) group.