craniometaphyseal dysplasia

Craniometaphyseal Dysplasia (CMD): A Rare Genetic Bone Disorder

Craniometaphyseal dysplasia, also known as CMD, is a rare genetic bone disorder that affects the growth and development of bones in the head, arms, and legs. The condition is characterized by progressive thickening of the craniofacial bones and aberrant development of long bones in the limbs [3].

Key Features:

• Progressive diffuse hyperostosis: Thickening of the cranial bones, which can lead to facial deformities and impaired cranial nerve function [2].
• Aberrant development of long bones: Malformation of the long bones in the limbs, leading to abnormalities in bone growth and development [3].
• Facial features: Abnormal facial features, including a prominent forehead, sunken eyes, and a short nose [7].

Causes and Transmission:

CMD is an autosomal dominant genetic disorder, meaning that a single copy of the mutated gene is enough to cause the condition. The exact cause of CMD is unknown, but it is believed to be related to mutations in the TCIRG1 or OPN1 genes [2][9].

Prevalence and Diagnosis:

CMD is an extremely rare condition, with only a few reported cases worldwide. Diagnosis is typically made through a combination of clinical evaluation, radiographic imaging (e.g., X-rays), and genetic testing [3][5].

References:

• [1] CMD is a rare disorder that involves the way the bones in the head, arms, and legs grow.
• [2] Autosomal dominant craniometaphyseal dysplasia (designated AD-CMD in this review) is characterized by progressive diffuse hyperostosis of cranial bones.
• [3] Craniometaphyseal dysplasia (CMD) is an extremely rare genetic disease marked by progressive thickening of the craniofacial bones and aberrant development ...
• [4] Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones.
• [5] Craniometaphyseal dysplasia is a rare condition characterized by thickening (overgrowth) of bones in the skull (cranium) and abnormalities in a region at ...
• [6] Craniometaphyseal dysplasia (CMD) is a very rare bone disorder that affects mostly bones of the head (cranial bones) but also long (tubular) bones.
• [7] The condition is characterized abnormal facial features, impairment of cranial nerves, and malformation of the long bones in the limbs.
• [8] Craniometaphyseal dysplasia is an osteochondrodysplasia characterized by hyperostosis and sclerosis of the craniofacial bones associated with abnormal ...
• [9] Craniometaphyseal dysplasia (CMD) is a rare genetically transmitted bone dysplasia characterized by alterations in the development of the craniofacial bones.

Craniometaphyseal dysplasia (CMD) is a rare genetic bone disease that affects the development and growth of bones in the face and head. The signs and symptoms of CMD can vary from person to person, but here are some common ones:

• Distinctive facial features: Affected individuals typically have a wide nasal bridge, a prominent forehead, wide-set eyes (hypertelorism), and a large lower jaw [5][6].
• Eating and breathing difficulties: Some people with CMD may experience eating and breathing problems due to the abnormal growth of bones in the face and head [8].
• Hypertelorism: This refers to an abnormally wide distance between the eyes, which is a common feature in individuals with CMD [5][6].
• Wide nasal bridge: A wide nasal bridge is another distinctive facial feature associated with CMD [4][9].
• Large lower jaw: Some people with CMD may have a larger-than-normal lower jaw, which can cause eating and breathing difficulties [8].
• Proptosis: This refers to the bulging of the eyes due to abnormal growth of bones in the face and head [5].
• Dolichocephaly: This is a condition where the head becomes elongated or narrow, which is sometimes seen in individuals with CMD [5].
• Delayed or absent teeth: Some people with CMD may experience delayed or absent teething, which can be due to abnormal bone growth in the jaw [8].

It's worth noting that these symptoms can vary in severity and may not be present in all individuals with CMD. If you suspect that someone has CMD, it's essential to consult a medical professional for an accurate diagnosis and treatment plan.

References: [4] - Context result 4 [5] - Context result 5 [6] - Context result 6 [8] - Context result 8 [9] - Context result 9

Craniometaphyseal dysplasia (CMD) is a rare genetic disorder that affects the growth and development of bones in the head, arms, and legs. Diagnostic tests for CMD are crucial to confirm the diagnosis and rule out other conditions.

Diagnostic Tests:

• Molecular Genetic Testing: Identification of a heterozygous pathogenic variant in ANKH can confirm the diagnosis if clinical features are present [1].
• X-rays: X-rays show unusually shaped long bones, particularly long bones in the legs, with the ends of the bones being affected [4].
• Blood and Tissue Samples Analysis: Blood samples and tissue samples from patients are analyzed to learn about the processes that lead to this disorder [3].
• Genetic Panel Testing: A 12-gene panel that includes assessment of non-coding variants is ideal for patients with a clinical suspicion of craniometaphyseal dysplasia [9].

Specimen Requirements:

• Whole Blood (2 x 4ml EDTA tubes, lavender top)
• Extracted DNA (3ug in EB buffer)
• Buccal Swab
• Saliva (kits available upon request)

Test Limitations: All diagnostic tests have limitations. It is essential to consult with a healthcare professional to determine the best course of action for diagnosis and treatment.

References: [1] E Reichenberger · 2020 · Cited by 8 — [3] [4] Jun 1, 2018 — [9] Nov 13, 2023 —

Treatment Options for Craniometaphyseal Dysplasia

Craniometaphyseal dysplasia (CMD) is a rare genetic bone disorder that affects the skull and facial bones. While there is no cure for CMD, various treatment options are available to manage its symptoms and complications.

• Surgical Decompression: This is a common treatment approach for CMD, where surgical intervention is used to reduce compression of nerves and other tissues affected by the condition. The goal of this procedure is to alleviate pain, improve mobility, and prevent further damage to surrounding tissues [5].
• Remodeling of Severe Bony Abnormalities: In some cases, surgical treatment may involve remodeling severe bony abnormalities associated with CMD. This can help to restore normal bone structure and function [5].
• Calcitonin Therapy: Calcitonin is a hormone that helps regulate calcium levels in the body. It has been used as a treatment for CMD, particularly in patients with significant thickening of bones in the skull [2]. However, its effectiveness may vary depending on individual cases.
• Low Calcium Diet and Calcitriol: A low oral intake of calcium can promote a hypocalcemic state that stimulates osteoclast activation. This, combined with calcitriol therapy, may help to manage CMD symptoms in some patients [10].

It's essential to note that treatment for CMD is often tailored to individual cases and may involve a multidisciplinary approach involving medical specialists, surgeons, and other healthcare professionals.

References:

[1] SR Kim (2013) - Medical and surgical treatments can be considered for the management of CMD. [2] E Reichenberger (2020) - Treatment of manifestations: Treatment for feeding and respiratory issues per craniofacial team; surgical intervention to reduce compression of ... [5] EJ Reichenberger (2024) - Treatment of craniometaphyseal dysplasia consists of surgical decompression of entrapped nerves and remodeling of severe bony abnormalities; [10] WM Sheppard (2003) - The other treatment is a low oral intake of calcium promotes a hypocalcemic state that stimulates osteoclast activation.

Craniometaphyseal dysplasia (CMD) has several differential diagnoses, which are conditions that can present with similar symptoms and characteristics. Some of the major differential diagnoses of CMD include:

• Metaphyseal dysplasia (Pyle disease): This is a rare condition characterized by abnormal growth and development of bones in the metaphyses (the wide portion) of long bones [5].
• Craniodiaphyseal dysplasia (CDD): This is another rare condition that affects the growth and development of bones in the skull and face, similar to CMD [5].
• Osteopetrosis: Also known as marble bone disease, this is a rare genetic disorder characterized by an increase in bone density due to impaired osteoclast function [3][7].
• Polyostotic fibrous dysplasia: This is a rare condition characterized by abnormal growth and development of bones in multiple parts of the body, similar to CMD [8].

These differential diagnoses are important to consider when diagnosing CMD, as they can present with similar symptoms and characteristics. A thorough medical evaluation and diagnostic testing are necessary to accurately diagnose CMD and rule out these other conditions.

References: [3] - Context result 4 [5] - Context result 5 [7] - Context result 7 [8] - Context result 8