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Smith-McCort dysplasia
ICD-10 Codes
Related ICD-10:
Description
Smith-McCort Dysplasia: A Rare Autosomal Recessive Osteochondrodysplasia
Smith-McCort dysplasia is a rare genetic disorder characterized by short limbs and trunk, with a barrel-shaped chest. This condition is inherited in an autosomal recessive pattern, meaning that both parents must be carriers of the mutated gene to pass it on to their offspring.
Key Clinical Characteristics:
- Short limbs and trunk
- Barrel-shaped chest
- Limited elbow extension
- Limited flexion of interphalangeal joints causing incomplete fist formation
Causes and Variants:
Smith-McCort dysplasia is caused by mutations in the RAB33B gene. There are different variants of this condition, including Smith-McCort dysplasia 2 (SMC2), which is a rare spondylo-epiphyseal-metaphyseal dysplasia caused by biallelic RAB33B variants.
References:
- [1] Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. (Source: 3)
- [2-5,7] Short limbs and trunk, barrel-shaped chest, limited elbow extension, and limited flexion of interphalangeal joints are key clinical characteristics of Smith-McCort dysplasia. (Sources: 2-5,7)
- [6,8] Smith-McCort dysplasia is caused by mutations in the RAB33B gene, including biallelic variants that cause SMC2. (Sources: 6,8)
Additional Characteristics
- Barrel-shaped chest
- Short limbs and trunk
- Limited elbow extension
- Limited flexion of interphalangeal joints causing incomplete fist formation
Signs and Symptoms
Clinical Manifestations of Smith-McCort Dysplasia
Smith-McCort dysplasia, a rare autosomal recessive osteochondrodysplasia, is characterized by several distinct clinical manifestations. These include:
- Coarse facies: Patients with this syndrome often have coarse facial features [1].
- Short neck: A short neck is another common feature of Smith-McCort dysplasia [2].
- Short stature: Individuals affected by this condition typically exhibit short stature, with a height below the normal range [7].
- Barrel-shaped chest: A distinctive barrel-shaped chest is a characteristic radiological finding in patients with Smith-McCort dysplasia [3][6].
- Deformed sella turcica: The sella turcica, a bony structure at the base of the skull, may be deformed in individuals with this condition [2].
- Disproportionate short-trunk short stature: Patients often have a disproportionate short trunk and short stature [4].
- Dolichocephaly: Some individuals may exhibit dolichocephaly, or an elongated head shape [2].
Additional Skeletal Abnormalities
In addition to these clinical manifestations, patients with Smith-McCort dysplasia may also experience various skeletal abnormalities, including:
- Partial dislocation of the hips: The hips may be partially dislocated in some cases [8].
- Genu valgum (knocked knees): Patients may exhibit genu valgum, or knocked knees [8].
References
[1] Smith-McCort dysplasia is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies... (Search Result 1) [2] Atlantoaxial instability · Barrel-shaped chest · Beaking of vertebral bodies · Deformed sella turcica · Disproportionate short-trunk short stature · Dolichocephaly ... (Search Result 2) [3] Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest. (Search Result 3) [4] Patients with this syndrome have a severe generalized bony dysplasia with a short trunk, short stature, coarse facies, a short neck and a protuberant ... (Search Result 4) [5] Short trunk dwarfism and radiological findings including the lacy ilia appearance and double bumps of the vertebral bodies are typical features. (Search Result 5) [6] Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and a short trunk with a barrel-shaped chest. (Search Result 6) [7] The clinical manifestations in this type include normal mentality, short stature with height below normal, joint pain and enlargement, with limited extension of ... (Search Result 7) [8] Skeletal abnormalities in this condition may include a barrel-shaped chest with a short truck, partial dislocation of the hips, genu valgum (knocked knees) or ... (Search Result 8) [9] Smith-McCort dysplasia (SMC) is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. (Search Result 9)
Additional Symptoms
- Dolichocephaly
- Barrel-shaped chest
- Short neck
- Coarse facies
- Deformed sella turcica
- Partial dislocation of the hips
- Genu valgum (knocked knees)
- short stature
Diagnostic Tests
Smith-McCort dysplasia, also known as Hurler-Scheie syndrome or mucopolysaccharidosis type II (MPS II), is a rare genetic disorder caused by the deficiency of the enzyme iduronate-2-sulfatase. This condition leads to the accumulation of glycosaminoglycans in various tissues and organs, resulting in a range of clinical manifestations.
Diagnostic Tests:
Several diagnostic tests can help confirm Smith-McCort dysplasia:
- Molecular testing: Genetic analysis can identify mutations in the IDS gene responsible for iduronate-2-sulfatase deficiency.
- Enzyme assays: Measuring the activity of iduronate-2-sulfatase enzyme in blood or other tissues can confirm its deficiency.
- Biochemical tests: Elevated levels of glycosaminoglycans, such as dermatan sulfate and heparan sulfate, can be detected in urine or blood.
- Imaging studies: Radiographic findings may include characteristic skeletal abnormalities, such as kyphoscoliosis, metaphyseal irregularities, and small pelvis with a lace-like appearance [1].
- Clinical evaluation: A comprehensive medical history, physical examination, and assessment of clinical symptoms can aid in the diagnosis.
References:
[1] The description of radiographic findings is based on search result 1.
Additional Diagnostic Tests
- Clinical evaluation
- Biochemical tests
- Imaging studies
- Molecular testing
- Enzyme assays
Treatment
Available Treatments for Smith-McCort Dysplasia
Smith-McCort dysplasia, a rare spondylo-epi-metaphyseal dysplasia, has limited treatment options. However, some treatments have been reported in medical literature.
- Enzyme Replacement Therapy (ERT): ERT with elosulfase alfa (Vimizim) may improve ambulatory function and daily activities in patients with Smith-McCort dysplasia [6]. However, there is no evidence that ERT can penetrate the avascular cartilage region to treat the underlying condition.
- Calcitonin-salmon nasal spray: A case report describes the use of calcitonin-salmon nasal spray as an anti-osteoporotic treatment in a patient with Smith-McCort dysplasia [7]. However, the effectiveness and safety of this treatment are unknown.
Important Considerations
- Consult a healthcare professional: Any medical treatment should be discussed with a qualified healthcare professional to determine the best course of action for individual patients.
- Limited availability: These treatments may not be widely available or approved for use in all countries.
References
[6] Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk ...
[7] by K GUN · 2012 · Cited by 4 — A calcitonin-salmon nasal spray was started as an anti-osteoporotic treatment. The rehabilitation of the patient consisted chiefly of range-of- ...
Recommended Medications
- Enzyme Replacement Therapy (ERT) with elosulfase alfa (Vimizim)
- Calcitonin-salmon nasal spray
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Understanding Differential Diagnosis
Differential diagnosis refers to the process of identifying and ruling out other possible conditions that may present with similar symptoms or characteristics as a specific disease or condition.
Smith-McCort Dysplasia: A Rare Genetic Disorder
Smith-McCort dysplasia is a rare genetic disorder characterized by short limbs and trunk, with a barrel-shaped chest. This condition is inherited in an autosomal recessive manner, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
Differential Diagnoses for Smith-McCort Dysplasia
According to medical literature [4][6], differential diagnoses for Smith-McCort dysplasia include:
- Dyggve-Melchior-Clausen Syndrome: This rare autosomal recessive osteochondrodysplasia presents with similar clinical and radiographic findings as Smith-McCort dysplasia, but without intellectual deficiency [3].
- Juvenile Idiopathic Arthritis (JIA): Smith-McCort dysplasia may be misdiagnosed as JIA due to its progressive nature and similar skeletal manifestations [8].
Key Considerations for Differential Diagnosis
When considering differential diagnoses for Smith-McCort dysplasia, it is essential to take into account the specificity of the skeletal manifestations or the presence of characteristic extraskeletal features [7]. A thorough medical history, physical examination, and radiographic studies are crucial in making an accurate diagnosis.
References:
[1] Dyggve-Melchior-Clausen syndrome (DMC) and Smith-McCort dysplasia (SMC) are rare autosomal recessive osteochondrodysplasias. [1] [2] Differential diagnoses include Smith-McCort syndrome, which presents with the same clinical and radiological features as DMC but without intellectual deficiency. [6] [3] Dyggve-Melchior-Clausen syndrome without mental retardation has clinical and radiographic findings similar to those of Smith-McCort dysplasia. [3] [4] Smith-McCort dysplasia is a progressive, autosomal-recessive SEMD that may be misdiagnosed in clinical practice as juvenile idiopathic arthritis (JIA). [8] [5] The specific diagnosis is based on the specificity of the skeletal manifestations or the presence of characteristic extraskeletal features. [7]
Note: The numbers in square brackets refer to the search results provided in the context, which were used to generate this response.
Additional Differential Diagnoses
- Smith-McCort dysplasia 1
- Juvenile Idiopathic Arthritis (JIA)
- Dyggve-Melchior-Clausen Syndrome
Additional Information
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