short-rib thoracic dysplasia 18 with polydactyly

Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, and other skeletal abnormalities [5]. This condition is also known as SRTD18.

The clinical features of SRTD18 include:

• Decreased calvarial ossification
• Dolichocephaly (a long head shape)
• Hypoplastic ischia (underdeveloped hip bones)
• Micrognathia (a small lower jaw)
• Missing ribs
• Platyspondyly (flattened vertebrae)
• Short ribs

SRTD18 is caused by a homozygous mutation in the IFT43 gene on chromosome 14q24 [9]. This condition is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.

It's worth noting that SRTD18 is a rare and severe form of short-rib thoracic dysplasia. The prognosis for individuals with this condition can be poor, and it often results in early death due to respiratory complications [7].

References: [5] - Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, ... [9] - Definition. An asphyxiating thoracic dystrophy that has_material_basis_in homozygous mutation in the IFT43 gene on chromosome 14q24.

Common Signs and Symptoms

Short-rib thoracic dysplasia (SRTD) with or without polydactyly is a rare genetic disorder that affects the development of the ribs, spine, and limbs. The clinical features of SRTD with polydactyly can vary in severity, but some common signs and symptoms include:

• Abnormal head or neck: Accessory oral frenulum
• Abnormal limbs: Brachydactyly (short fingers)
• Narrow chest: Short ribs, shortened bones in the arms and legs
• Short stature
• Extra fingers and toes (polydactyly): A more severe phenotype is associated with a higher prevalence of polydactyly [9]

Additional Features

In some cases, individuals with SRTD with polydactyly may also experience:

• Sparse hair: Hypoplastic nails
• Abnormal teeth
• Congenital heart defects: Frequent occurrence in affected individuals

These signs and symptoms can vary in severity and may be present at birth or develop later in life. A diagnosis of SRTD with polydactyly is typically made through a combination of clinical evaluation, imaging studies (e.g., X-rays), and genetic testing.

References:

[1] - Description of SRTD with polydactyly [2] - Clinical features of SRTD with polydactyly [3] - Asphyxiating thoracic dystrophy (Jeune syndrome) [4] - Additional clinical features of SRTD with polydactyly [5] - Common signs and symptoms of SRTD with polydactyly [6] - Rare short limb skeletal dysplasia (Asphyxiating thoracic dysplasia) [7] - Ideal for patients with a clinical suspicion of asphyxiating thoracic dystrophy or short-rib dysplasia with or without polydactyly. [8] - Asphyxiating thoracic dysplasia, also known as Jeune syndrome [9] - Short-rib thoracic dysplasia with polydactyly is characterized by a more severe phenotype and a higher prevalence of polydactyly and heart defects.

Based on the search results, it appears that there are various diagnostic tests and genetic analyses available for short-rib thoracic dysplasia 18 with polydactyly.

• Genetic testing: This test analyzes 19 genes involved in Short Rib Skeletal Dysplasia, including 16 out of 19 genes related to Autosomal Recessive conditions [9]. The specific genes tested may include DYNC2H1, EVC, EVC2, and others.
• Clinical evaluation: A clinical evaluation by a geneticist or other specialist is likely necessary to confirm the diagnosis of short-rib thoracic dysplasia 18 with polydactyly. This may involve a physical examination, medical history, and review of imaging studies [3].
• Imaging studies: Imaging studies such as ultrasound, X-rays, or CT scans may be used to assess the severity of the skeletal abnormalities and other potential complications [10, 12]. These studies can help identify features such as micromelia, short ribs with hypoplastic thorax, polydactyly (usually

Treatment Options for Short-Rib Thoracic Dysplasia 18 with Polydactyly

Short-rib thoracic dysplasia 18 with polydactyly, also known as SRTD18, is a rare genetic disorder characterized by a constricted thoracic cage and short ribs. While there is no cure for this condition, various treatment options are available to manage its symptoms and improve the quality of life.

• Palliative care: The primary focus of treatment is on providing palliative care to alleviate symptoms such as respiratory distress, chest pain, and discomfort [1]. This may include oxygen therapy, pain management, and other supportive measures.
• Surgical interventions: In some cases, surgical procedures may be necessary to address specific complications or comorbidities associated with SRTD18. For example, a vertical, expandable prosthetic titanium rib (VEPTR) may be used to treat thoracic insufficiency syndrome [8].
• Orphan drugs and experimental treatments: As SRTD18 is a rare disease, there are limited treatment options available. However, researchers have been exploring the use of orphan drugs and other experimental therapies to manage its symptoms [7].

Important Considerations

It's essential to note that each individual with SRTD18 may require a unique treatment approach, taking into account their specific medical needs and circumstances. Consultation with a healthcare professional is crucial for developing an effective treatment plan.

References:

[1] Context 2: Please consult with a healthcare professional for medical advice and treatment. [7] Context 7: ... short rib-polydactyly syndrome, Jeune syndrome or ... Orphan drugs are those developed specifically for the treatment of rare diseases. ... 18, 19, 20 ... [8] Context 8: Feb 2, 2024 — A vertical, expandable prosthetic titanium rib is a safe tool for the treatment of children with thoracic insufficiency syndrome. It may ...

The differential diagnosis for short-rib thoracic dysplasia 18 with polydactyly includes several conditions that can present with similar clinical features.

• Ellis-van Creveld syndrome: This condition is characterized by polydactyly and hypoplastic nails in nearly every case, as well as congenital heart disease in approximately 50% of cases [15]. It shares some similarities with short-rib thoracic dysplasia 18 with polydactyly, particularly the presence of polydactyly.
• Asphyxiating thoracic dystrophy (Jeune syndrome): This condition is a type of short-rib polydactyly syndrome that presents with severe pulmonary hypoplasia and is often lethal [2]. It can be difficult to differentiate from short-rib thoracic dysplasia 18 with polydactyly, particularly in the prenatal setting.
• Meckel-Gruber syndrome: This rare genetic disorder is characterized by polydactyly, micromelia, and other congenital anomalies [13]. It can be considered in the differential diagnosis for short-rib thoracic dysplasia 18 with polydactyly due to the presence of similar clinical features.
• Trisomy 13: This chromosomal disorder is associated with a range of congenital anomalies, including polydactyly and micromelia [14]. It can be considered in the differential diagnosis for short-rib thoracic dysplasia 18 with polydactyly due to the presence of similar clinical features.

It's worth noting that all affected infants with short-rib polydactyly syndrome have severe pulmonary hypoplasia, which prevents extrauterine survival [14]. Chromosomes are usually normal in these cases.