vertebral hypersegmentation and orofacial anomalies

Vertebral Hypersegmentation and Orofacial Anomalies (VHO)

Vertebral hypersegmentation and orofacial anomalies, also known as Vertebral Hypersegmentation and Orofacial Anomalies (VHO), is a rare congenital disorder characterized by the presence of supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs. This condition is often accompanied by orofacial clefting and ear anomalies.

Key Features:

• Supernumerary cervical, thoracic, and/or lumbar vertebrae
• Supernumerary ribs
• Orofacial clefting (cleft palate or lip)
• Ear anomalies

Causes and Associations:

Research suggests that mutations in the GDF11 gene may be associated with VHO. This gene plays a crucial role in vertebral development, and mutations can lead to abnormalities in the formation of vertebrae and ribs.

Prevalence and Impact:

VHO is a rare condition, and its exact prevalence is unknown. However, it is considered an autosomal dominant disease, meaning that a single copy of the mutated gene is sufficient to cause the condition. The impact of VHO on affected individuals can be significant, with potential complications including respiratory problems, feeding difficulties, and developmental delays.

References:

• Cox et al., 2019 [1, 10] reported a family with multiple members exhibiting vertebral hypersegmentation involving the cervical, thoracic, and lumbar vertebrae.
• The definition of VHO is provided in various sources, including DOID:0070418 [5, 7, 11].
• MalaCards integrated disease information for Vertebral Hypersegmentation and Orofacial Anomalies from 75 data sources [14].

Note: Citations are based on the search results provided within the context.

Clinical Signs and Symptoms

Vertebral hypersegmentation and orofacial anomalies (VHO) is a rare condition characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with various other anomalies. The clinical signs and symptoms of VHO can vary widely among affected individuals.

Common Signs and Symptoms:

• Supernumerary cervical, thoracic, and/or lumbar vertebrae [2]
• Association with other anomalies such as craniofacial asymmetry, mandibular hypoplasia, ocular epibulbar dermoids, and hearing loss [5]
• Short neck and limited neck movement due to vertebral fusion [7]
• Pain in the neck and back region
• Restricted flexibility and mobility
• Nerve damage leading to numbness or weakness in the arms or legs
• Hearing loss

Additional Symptoms:

• Dyspraxia (difficulty with coordination and balance)
• Ocular anomalies such as epibulbar dermoids
• Mandibular hypoplasia (underdeveloped jawbone)

It's essential to note that each individual may experience a unique combination of symptoms, and the severity can vary greatly. A comprehensive medical evaluation is necessary for an accurate diagnosis and treatment plan.

References: [2] - Vertebral hypersegmentation and orofacial anomalies (VHO) is characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with ... [5] - Salient features of oculo-auriculo-vertebral spectrum (OAVS) include unilateral microtia, craniofacial asymmetry, mandibular hypoplasia, ocular epibulbar ... [7] - This fusion can lead to a short neck, limited neck movement, and pain. Symptoms may include a low hairline, restricted flexibility, nerve damage, and hearing ...

Based on the provided context, it appears that vertebral hypersegmentation and orofacial anomalies are associated with a specific syndrome.

• DNA methylation episignature testing can improve molecular diagnosis of this syndrome [3].
• Molecular testing for GDF11 is recommended in people with the combination of orofacial clefting and vertebral/rib hypersegmentation [5, 9].
• This syndrome is characterized by supernumerary cervical, thoracic, and/or lumbar vertebrae, in association with supernumerary ribs [4].

It's worth noting that a virtual panel can be formed as part of the analysis of a broader phenotype, using genome or exome data in the NHS Genomic Medicine Service [7]. This panel may include testing for GDF11 and other relevant genes.

In terms of diagnostic tests, it seems that molecular testing is a key aspect of diagnosing this syndrome. The specific tests recommended include DNA methylation episignature testing and molecular testing for GDF11.

Treatment Options for Vertebral Hypersegmentation (VMs) and Orofacial Anomalies

While there is no cure for Vertebral Hypersegmentation (VMs), treatment focuses on managing symptoms through lifestyle or surgical interventions. Surgery is typically indicated in younger individuals, as mentioned in [2].

The primary goal of treatment is to alleviate symptoms and improve quality of life. In some cases, surgery may be necessary to correct physical abnormalities associated with VMs.

Surgical Interventions

Surgery can be used to address various aspects of VMs, including:

• Correcting skeletal anomalies, such as supernumerary ribs or vertebrae
• Resolving orofacial anomalies, like cleft palate or lip
• Improving overall physical function and mobility

However, it's essential to note that surgery is not always necessary, and treatment plans are often tailored to individual needs. In some cases, lifestyle modifications may be sufficient to manage symptoms.

Lifestyle Modifications

In addition to surgical interventions, lifestyle changes can help alleviate symptoms associated with VMs. These may include:

• Maintaining a healthy weight to reduce pressure on the spine
• Engaging in regular exercise to improve physical function and mobility
• Practicing good oral hygiene to prevent complications related to orofacial anomalies

Genetic Considerations

Research suggests that mutations in genes like GDF11 and Follistatin may contribute to the development of VMs, particularly when combined with other conditions such as orofacial clefting [3][4]. Genetic testing may be recommended for individuals with a family history of these conditions.

References:

[2] Since there is no cure for VMs, treatment focuses on symptoms managed with either lifestyle or surgical interventions. Surgery is indicated mainly in younger ...

[3] Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humans.

[4] We thus recommend that molecular testing for GDF11 should be considered in people with the combination of orofacial clefting and vertebral/rib ...

Vertebral hypersegmentation and orofacial anomalies (VHO) is a rare genetic disorder characterized by the presence of extra vertebrae, ribs, or other skeletal abnormalities in combination with facial malformations. The differential diagnosis for VHO involves considering various conditions that present with similar symptoms.

Possible Differential Diagnoses:

• Spondylocostal Dysplasia (SCD): A genetic disorder characterized by the presence of extra vertebrae, ribs, or other skeletal abnormalities [7].
• Orofacial Clefting Syndrome: A condition distinguished by vertebral and rib hypersegmentation, often associated with facial malformations [6].
• GDF11-related disorders: Mutations in the GDF11 gene have been linked to VHO, as well as other conditions such as orofacial clefting syndrome [8][9].
• X-linked spondyloepiphyseal dysplasia tarda: A rare genetic disorder characterized by skeletal abnormalities and facial malformations [7].

Key Features to Consider:

• Presence of extra vertebrae, ribs, or other skeletal abnormalities
• Facial malformations, including orofacial clefting
• Genetic mutations in GDF11 or other genes associated with VHO

Diagnostic Approach:

A comprehensive diagnostic approach for VHO involves a combination of clinical evaluation, imaging studies (such as X-rays and CT scans), and genetic testing. A thorough medical history and physical examination are essential to identify the presence of skeletal abnormalities and facial malformations.

References:

[6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9