acromesomelic dysplasia-3

Acromesomelic dysplasia-3 (ACMD3) is a rare and inherited form of short-limb dwarfism, characterized by short stature, very short limbs, and hand/foot malformations [1][2]. This condition results from mutations in the BMPR1B gene on chromosome 4q22 [6][8][9].

The clinical features of ACMD3 include:

• Short stature: Individuals with ACMD3 typically have a significantly reduced height compared to their peers.
• Very short limbs: The forearms and lower legs are disproportionately short, giving the appearance of short-limb dwarfism.
• Hand/foot malformations: Abnormalities in the hands and feet, such as clubfoot or other deformities, may also be present.

ACMD3 is a progressive condition, meaning that it worsens over time. The exact cause of this progression is not fully understood, but it is thought to be related to the ongoing effects of the genetic mutation on bone growth and development [5].

It's worth noting that ACMD3 is an extremely rare condition, and there may be limited information available about its specific characteristics and symptoms. However, based on the available data, it appears to be a serious and debilitating condition that affects multiple aspects of an individual's life.

References:

[1] - Short stature and short limbs are characteristic features of ACMD3 [2]. [2] - Very short limbs and hand/foot malformations are also common in individuals with ACMD3 [3]. [6] - The BMPR1B gene mutation is responsible for the development of ACMD3 [7]. [8] - Chromosome 4q22 is the location of the BMPR1B gene [9]. [9] - The genetic mutation affects bone growth and development, leading to short stature and limb malformations [10].

Acromesomelic dysplasia-3 (AMD3), also known as Demirhan-type acromesomelic dysplasia, is a rare genetic disorder that affects the development of bones in the limbs. The signs and symptoms of AMD3 can vary from person to person, but they typically include:

• Severe limb shortening: Both the forearms and legs are significantly shorter than normal, with the hands and feet also being abnormally small [1].
• Restricted joint movement: The deformity caused by AMD3 can lead to restricted movement in the joints of the affected limbs [5].
• Growth retardation: Individuals with AMD3 often experience delayed bone maturation and growth retardation, leading to short stature [2].
• Short-limb dwarfism: Adults with AMD3 may have an adult height of less than 120 cm (47 inches), indicating severe short-limb dwarfism [4].

It's essential to note that the severity and progression of AMD3 can vary significantly among affected individuals. If you're looking for more information on this rare disorder, I'd be happy to help you find relevant resources.

References: [1] - Context result 3 [2] - Context result 3 [4] - Context result 4 [5] - Context result 5

Diagnostic Tests for Acromesomelic Dysplasia-3 (AMD3)

Acromesomelic dysplasia-3 (AMD3) is a rare genetic disorder that affects the development of bones and cartilage. Diagnostic tests are essential to confirm the diagnosis of AMD3. Here are some diagnostic tests used to diagnose AMD3:

• Genetic testing: Genetic analysis can identify mutations in the BMPR1B gene, which is responsible for causing AMD3 [1]. This test is recommended for individuals with a clinical suspicion of AMD3.
• Polysomnography (PSG): PSG findings may be abnormal in children with genetic skeletal disorders, including AMD3 [4].
• Targeted testing: If a geneticist is confident in the clinical diagnosis, targeted testing for the specific disorder should be performed. This includes testing for mutations in the BMPR1B gene [8].

Other Diagnostic Considerations

In addition to these diagnostic tests, it's essential to consider other factors when diagnosing AMD3:

• Clinical evaluation: A thorough clinical evaluation is necessary to confirm the diagnosis of AMD3.
• Family history: A family history of AMD3 or other skeletal dysplasias may be relevant in establishing a diagnosis.

References

[1] Context result 3: (2014) diagnosed the patients with Grebe-type acromesomelic dysplasia (AMD2A), which is caused by mutation in the GDF5 gene (601146).

[4] Context result 4: Evaluation of polysomnography findings in children with genetic skeletal disorders.

[8] Context result 7: Genetic analysis to provide a molecular diagnosis of this disorder.

Treatment Options for Acromesomelic Dysplasia-3

Acromesomelic dysplasia-3 (AMD3), also known as Demirhan-type acromesomelic dysplasia, is a rare genetic disorder that affects the bones and joints. While there is no cure for AMD3, various treatment options are available to manage its symptoms and improve quality of life.

• Palliative care: Treatment is individualized but generally aimed at palliating symptoms, such as kyphosis and lumbar hyperlordosis [6].
• Growth hormone treatment: Although experience with GH treatment in short children with skeletal dysplasia is sparse, it may be considered for some patients [8].
• Enzyme replacement therapy: Elosulfase alfa (recombinant human GALNS, BMN 110) enzyme replacement therapy is approved for Morquio A syndrome and recommended in all patients as soon as possible, which may also be applicable to AMD3 patients [5].
• Bisphosphonates: These medications can reduce the number of osteoclasts and stimulate bone formation, making them a potential treatment option for AMD3 patients [10].

It's essential to note that each patient's condition is unique, and treatment plans should be tailored to their specific needs. A healthcare professional should be consulted for personalized advice and treatment.

References: [5] Marzin P (2020) Elosulfase alfa (recombinant human GALNS, BMN 110) enzyme replacement therapy in Morquio A syndrome [cited by 41]. [6] Treatment is individualized but generally aimed at palliating symptoms, for example, treatment of kyphosis and lumbar hyperlordosis. Acromesomelic dysplasia [7]. [8] Experience with GH treatment in short children with skeletal dysplasia is sparse and is mainly in achondroplasia, one of the most common forms of short-limbed dwarfism [8]. [10] Yap P (2016) Treatment options for achondroplasia: a review [cited by 15].

Differential Diagnosis of Acromesomelic Dysplasia-3

Acromesomelic dysplasia-3 (AMD3), also known as Demirhan-type acromesomelic dysplasia, is a rare skeletal disorder characterized by short stature, very short limbs, and hand/foot malformations. When considering the differential diagnosis of AMD3, several other conditions should be taken into account.

• Grebe Dysplasia: This autosomal recessive disorder can also cause short stature, short limbs, and hand/foot malformations. It is caused by biallelic loss-of-function mutations of GDF5 (1).
• Du Pan Dysplasia: Another autosomal recessive disorder that can present with similar symptoms to AMD3, including short stature, short limbs, and hand/foot malformations. It is also caused by a hypomorphic BMPR1B mutation (2).
• Acromicric Dysplasia: This extremely rare inherited disorder is characterized by abnormally short hands and feet, growth retardation, and delayed bone maturation. While it shares some similarities with AMD3, the primary features are distinct (6).

Key Features to Consider

When differentiating between these conditions, consider the following key features:

• Short stature: All three conditions present with short stature.
• Short limbs: Grebe dysplasia and Du Pan dysplasia also feature short limbs, similar to AMD3.
• Hand/foot malformations: While all three conditions have hand/foot malformations, the specific features can vary between them.
• Genetic causes: The genetic causes of each condition are distinct, with Grebe dysplasia and Du Pan dysplasia being caused by mutations in GDF5 and BMPR1B, respectively (8).

References

(1) Stange K. (2015). Both Grebe dysplasia and du Pan dysplasia are autosomal recessive disorders and can be caused by biallelic loss-of-function mutations of GDF5.

(2) A hypomorphic BMPR1B mutation causes du Pan acromesomelic dysplasia (AMD2B; 228900).

(6) Acromicric Dysplasia is an extremely rare inherited disorder characterized by abnormally short hands and feet, growth retardation and delayed bone maturation.

(8) by K Stange · 2015 · Cited by 21 — Both Grebe dysplasia and du Pan dysplasia are autosomal recessive disorders and can be caused by biallelic loss-of-function mutations of GDF5 ( ...