spondylometaepiphyseal dysplasia, short limb-hand type

Spondylometaepiphyseal dysplasia, short limb-hand type is a rare autosomal recessive genetic skeletal disorder characterized by distinctive facial features and disproportionate short stature with rhizomelic shortening of the limbs, severe brachydactyly, and radiologically by platyspondyly, abnormal meta-epiphyses, and premature calcifications [1][2][3].

The key clinical features of this condition include:

• Short stature with typical short hands and broad, puffy fingers
• Narrow chest with rib abnormalities and pectus excavatum
• Characteristic craniofacial features
• Platyspondyly (abnormal flattening of the vertebrae)
• Abnormal meta-epiphyses (the ends of long bones where growth occurs)
• Premature calcifications (calcium deposits in cartilaginous tissues)

This condition is a rare skeletal dysplasia, and its symptoms can vary in severity [4][5]. It is essential to consult with medical professionals for an accurate diagnosis and treatment plan.

References: [1] Context result 12 [2] Context result 13 [3] Context result 14 [4] Context result 6 [5] Context result 10

Spondyloepimetaphyseal dysplasia (SEMD) is a rare genetic disorder that affects the development of bones and cartilage. The short limb-hand type of SEMD is characterized by several distinct signs and symptoms.

Physical Characteristics:

• Disproportionate short stature, with shortening of upper and lower limbs [11][14]
• Shortened upper and lower limbs [11][14]
• Generalized shortening and broadening of the fingers alongside small hands [11][12][14]
• Narrowed chest with rib abnormalities [11][12][14]

Other Symptoms:

• Pectus excavatum (sunken chest) [12][13]
• Abnormal chondral calcifications, including larynx, trachea, and costal calcifications [13]
• Frontal bossing (prominent forehead) [12]
• Macrocephaly (large head size) [15]

Musculoskeletal Symptoms:

• Short stature from birth
• Short trunk and shortened limbs
• Abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis) [1][10]

It's essential to note that each individual with SEMD may exhibit a unique combination of these symptoms, and not everyone will experience all of them. If you have any specific questions about this condition or would like more information, please let me know.

References: [1] Context result 1 [2] Not applicable (no relevant context) [3] Context result 3 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9 [10] Context result 10 [11] Context result 11 [12] Context result 12 [13] Context result 13 [14] Context result 14 [15] Context result 15

Diagnostic Tests for Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type

Spondylometaepiphyseal dysplasia, short limb-hand type is a rare genetic disorder that affects the development of bones and cartilage. Diagnostic tests are essential to confirm the diagnosis and rule out other conditions.

• Exome-based NextGen sequencing with CNV analysis: This is a favored testing approach for diagnosing SMED-SL/AC (Spondylometaepiphyseal dysplasia short limb-abnormal calcification type) [4]. It allows for cost-effective reflexing to PGxome or other exome-based tests.
• X-rays and imaging studies: These can be used to confirm the diagnosis of SMED-SL/AC by showing characteristic skeletal abnormalities, such as short long bones with stippled, flattened, and fragmented epiphyses [5].
• Genetic testing: This involves analyzing DNA samples from affected individuals or family members to identify mutations in the DDR2 gene, which is associated with SMED-SL/AC [11]. Sanger sequencing can be used to detect novel variants.
• Clinical Molecular Genetics test: This test is specifically designed for diagnosing SMED-SL/AC and involves deletion/duplication analysis and comparative genomic hybridization [14].

It's essential to note that the diagnosis of SMED-SL/AC is usually made based on clinical findings, family history, and genetic testing. A combination of these tests can provide a comprehensive understanding of the condition.

References: [4] - Our favored testing approach is exome based NextGen sequencing with CNV analysis. [5] - Radiological findings include short long bones with stippled, flattened, and fragmented epiphyses, irregular metaphyses, and platyspondyly in the spine. [11] - Three DDR2 variants, two of which were novel, were detected with the aid of Sanger sequencing. [14] - Clinical Molecular Genetics test for Spondylometaepiphyseal dysplasia short limb-hand type and using Deletion/duplication analysis, Comparative Genomic Hybridization offered by PreventionGenetics.

Based on the search results, it appears that there is limited information available on the specific drug treatment for spondylometaepiphyseal dysplasia, short limb-hand type. However, I can provide some general information on the management and treatment of this condition.

Management and Treatment

According to search result [3], the 3 unrelated patients with spondylometaepiphyseal dysplasia, short limb-hand type had a severe short-limb bone dysplasia. The management and treatment of this condition are likely to involve a multidisciplinary approach, including:

• Assistive devices: Assistive devices such as leg braces may be helpful in managing mobility issues [7].
• Glasses: Glasses may be prescribed to correct vision problems.
• Pain relief: Medications may be used to relieve joint pain.

Surgical Interventions

In some cases, surgical interventions may be necessary to improve and maintain function. According to search result [9], spinal fusion is indicated in patients with atlantoaxial instability.

Genetic Counseling

It's also worth noting that genetic counseling may be recommended for individuals affected by this condition, as well as their families, to discuss the risks of inheritance and potential reproductive options.

Please note that these are general suggestions and not specific treatment recommendations for spondylometaepiphyseal dysplasia, short limb-hand type. The management and treatment of this condition may vary depending on individual circumstances and should be discussed with a qualified healthcare professional.

References:

[3] Borochowitz et al. (1993) - A case report of 3 unrelated patients with spondylometaepiphyseal dysplasia, short limb-hand type. [7] Treatment for spondylometaphyseal dysplasia—Sedaghatian Type (MIM 250220) [9] Spondylometaphyseal Dysplasia—Sedaghatian Type (MIM 250220)

Differential Diagnosis of Spondylo-meta-epiphyseal Dysplasia (SMED), Short Limb-hand Type

Spondylo-meta-epiphyseal dysplasia (SMED), short limb-hand type is a rare genetic bone disorder that requires differential diagnosis from other similar conditions. The following are some of the conditions that may be considered in the differential diagnosis:

• Other SEMDs: Spondylo-meta-epiphyseal dysplasias are a group of disorders that affect the development and growth of bones, cartilage, and joints. Other types of SEMDs may present with similar clinical features, such as short stature, short limbs, and skeletal abnormalities.
• Diastrophic dysplasia: This is a rare genetic disorder characterized by short stature, short limbs, and distinctive facial features. It may be considered in the differential diagnosis of SMED-SL/HT due to its overlapping clinical features.
• Larsen syndrome: This is a rare genetic disorder that affects bone growth and development, leading to short stature, short limbs, and skeletal abnormalities. It may be considered in the differential diagnosis of SMED-SL/HT due to its similar clinical features.

According to [10], the major differential diagnoses for Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type (SMED-SL/AC) include:

• Sponastrime dysplasia: This is a rare genetic disorder that affects bone growth and development, leading to short stature, short limbs, and skeletal abnormalities. It may be considered in the differential diagnosis of SMED-SL/HT due to its overlapping clinical features.
• Mesomelic dysplasia, Werner type: This is a rare genetic disorder that affects bone growth and development, leading to short stature, short limbs, and skeletal abnormalities. It may be considered in the differential diagnosis of SMED-SL/HT due to its similar clinical features.

It's worth noting that [12] also mentions sponastrime dysplasia as a major differential diagnosis for Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome, which is another name for SMED-SL/AC.