spondylocostal dysostosis 4

Spondylocostal dysostosis 4 (SCDO4) is a severe autosomal recessive disorder caused by mutations in the HES7 gene located on chromosome 17p13. This condition is characterized by congenital malformations of the axial skeleton, specifically affecting the vertebrae and ribs.

Key Features:

• Short trunk relative to height
• Short neck
• Thoracic insufficiency
• Mild to severe non-progressive scoliosis

According to [14], SCDO4 is triggered by homozygous or compound heterozygous mutations in the HES7 gene. This condition is part of a larger group of heritable diseases known as spondylocostal dysostosis (SCDO), which includes an etiologically heterogeneous group of disorders characterized by congenital malformations of the axial skeleton [15].

References:

[14] SCDO4 is caused by homozygous or compound heterozygous mutation in the HES7 gene (608059) on chromosome 17p13. [15] The term Spondylocostal dysostosis (SCDO) includes an etiologically heterogeneous group of heritable diseases characterized by congenital malformations of the axial skeleton at the level of the vertebrae and ribs, with varying degrees of severity.

Spondylocostal dysostosis, a rare condition associated with abnormal development of bones in the spine and ribs, presents with several distinct signs and symptoms.

• Short neck: Individuals affected by this condition often have short, rigid necks [1].
• Abnormal spinal development: The condition is characterized by vertebral and rib segmentation defects, leading to abnormal development of the spine [4].
• Inguinal hernia: Increased pressure in the abdomen can cause a soft out-pouching around the lower abdomen (inguinal hernia), particularly in males with spondylocostal dysostosis [2][5].
• Short trunk: The condition is often associated with short-trunk dwarfism, where the trunk is proportionally shorter than the height [7][10].
• Mild scoliosis: Some individuals may experience mild scoliosis, which can lead to potential respiratory complications in severe cases [8].

These signs and symptoms can vary in severity and presentation among affected individuals.

Diagnostic Tests for Spondylocostal Dysostosis

Spondylocostal dysostosis (SCD) can be diagnosed through a combination of clinical evaluation, imaging studies, and molecular testing. Here are some of the diagnostic tests used to diagnose SCD:

• Clinical Evaluation: A thorough physical examination by a healthcare provider is essential in diagnosing SCD. The clinical features of SCD include short neck, limited mobility of the spine, and characteristic vertebral and rib abnormalities [8][9].
• Radiographs (X-rays): Radiographic findings are crucial in diagnosing SCD. The most common radiographic findings include multiple hemivertebrae, malalignment of the ribs, intercostal rib fusions, and reduced rib number [7]. X-rays can detect these abnormalities as early as 13 weeks gestation [4].
• Fetal Ultrasound: Fetal ultrasound is a non-invasive imaging technique that can detect vertebral defects as early as 13 weeks gestation [4]. This test can be used to diagnose SCD in the prenatal period.
• Molecular Testing: Molecular testing, such as whole-genome sequencing (WGS), can confirm the diagnosis of SCD by identifying mutations in genes such as LFNG, HES7, and MESP2 [6].

These diagnostic tests are essential in confirming the diagnosis of SCD. A combination of clinical evaluation, imaging studies, and molecular testing provides a comprehensive understanding of the condition.

References:

[4] Fetal ultrasound can detect vertebrae defects as early as 13 weeks gestation (Turnpenny et al. 2017. PubMed ID: 20301771).

[6] by M Umair · 2022 · Cited by 10 — SCDO is diagnosed based on characteristic symptoms, family history, an extensive clinical evaluation (radiographs of the spine), and molecular diagnosis (WGS/ ...

[7] The most common radiographic findings are multiple hemivertebrae, malalignment of the ribs, intercostal rib fusions, and reduced rib number. Clinical features ...

[8] by KI Avilés-Martínez · 2016 — The diagnosis is established by clinical assessment and X-rays. Spondylocostal dysostosis identification and complications related to their genetic and ...

[9] The diagnosis is established by clinical assessment and X-rays. Spondylocostal dysostosis identification and complications related to their genetic and ...

Treatment Options for Spondylocostal Dysostosis

Spondylocostal dysostosis, also known as Jarcho-Levin syndrome, is a rare genetic disorder that affects the development of bones in the spine and ribs. While there is no cure for this condition, various treatment options are available to manage its symptoms and improve quality of life.

• Conservative Management: In most cases, treatment is conservative, focusing on intensive medical care, bone surgery, and orthopedic treatment (1).
• Pain Management: Patients with spondylocostal dysostosis may experience chronic back pain, which can be managed with medications such as naproxen (9).
• Surgical Intervention: In some cases, surgical intervention may be necessary to correct spinal deformities or other complications associated with the condition.
• Multidisciplinary Approach: A team of healthcare professionals, including orthopedic surgeons, neurosurgeons, and pain management specialists, may be involved in the treatment plan to provide comprehensive care.

It's essential to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual needs and circumstances (5).

References: (1) Management and treatment. (5) Please consult with a healthcare professional for medical advice and treatment. (9) by BR Southam · Cited by 11 — Currently, she takes naproxen for chronic back pain with periodic exacerbations.

Differential Diagnosis of Spondylocostal Dysostosis

Spondylocostal dysostosis, a rare genetic disorder, can be challenging to diagnose due to its similarities with other conditions. The main clinical and radiological differential diagnosis is spondylothoracic dysostosis (Lavy–Moseley syndrome) [8]. This condition can be differentiated from spondylocostal dysostosis by the presence of specific spine and rib abnormalities on imaging studies.

Other conditions that may be considered in the differential diagnosis of spondylocostal dysostosis include:

• Spondylolisthesis: a condition characterized by the slippage of one vertebra over another, which can cause spinal instability and pain [9].
• Spinal muscular atrophy: a genetic disorder that affects the nerve cells responsible for controlling voluntary muscle movement, leading to muscle weakness and wasting [10].
• Congenital scoliosis: a condition characterized by an abnormal curvature of the spine present at birth, which can be caused by a variety of factors including genetic mutations [11].

It's essential to note that a definitive diagnosis of spondylocostal dysostosis is made through clinical assessment and imaging studies, such as X-rays and CT scans, which reveal characteristic spine and rib abnormalities [7]. A thorough evaluation by a qualified healthcare professional is necessary to rule out these differential diagnoses and confirm the diagnosis.

References: [8] Dec 21, 2023 — The main clinical and radiological differential diagnosis is spondylothoracic dysostosis (Lavy–Moseley syndrome). This can be differentiated ... [9] Spondylocostal dysostosis, autosomal recessive, is a rare condition characterized by vertebral and rib segmentation defects, resulting in a short neck, limited ... [10] The diagnosis is made from characteristic spine and rib abnormalities on spine films and CT scan of the thorax. In spondylocostal dysostosis, broadening, ...