multiple synostoses syndrome 4

Multiple synostoses syndrome-4 (MSS4) is a rare genetic disorder characterized by the fusion of bones in the hands and feet, as well as conductive hearing loss.

• Bone fusions: MSS4 is marked by the premature closure of joints in the carpal and tarsal bones, leading to fused or partially fused bones in these areas [1][2]. This can result in limited mobility and flexibility in the affected limbs.
• Conductive hearing loss: Individuals with MSS4 often experience conductive hearing loss, which is a type of hearing impairment that affects the middle ear's ability to transmit sound waves to the inner ear [3].
• Other symptoms: While not universally present, some individuals with MSS4 may also exhibit proximal symphalangism (fusion of fingers and/or toes) and joint fusions in other areas, such as the hips and vertebrae [4][5].

It's essential to note that MSS4 is a rare condition, and its symptoms can vary widely among affected individuals. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis and treatment plan.

References: [1] Terhal et al. (2018) - Characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss. [2] Terhal et al. (2018) - Fusion of carpal and tarsal bones, as well as conductive hearing loss. [3] Definition: A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that ... [4] SYNS is distinguished from SYM by more severe joint involvement which may include the hips and vertebrae; affected individuals may have ... [5] Definition: A multiple synostoses syndrome that is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss and that ...

Multiple synostoses syndrome-4 (MSS4) is a rare genetic disorder characterized by the fusion of bones in various parts of the body, as well as other systemic features.

Common signs and symptoms:

• Fusion of carpal and tarsal bones [1]
• Conductive hearing loss [1][2][3][4]
• Facial dysmorphism, including a long, narrow face, broad tubular nose with lack of alar flare, and thin upper lip [7]
• Mild facial dysmorphism with a round face, frontal bossing, and anteverted nostrils [8]
• Midline cleft palate [8]
• Joint dysplasia, particularly affecting the elbow joint [3][9]

Other potential features:

• Abnormality of head or neck
• Asymmetry of the mouth
• Abnormality of limbs, including 2-3 toe syndactyly
• Amblyopia (lazy eye)
• Abnormality of the eye

It's essential to note that not all individuals with MSS4 will exhibit all of these features, and the severity can vary widely among affected individuals. A comprehensive medical evaluation by a qualified healthcare professional is necessary for an accurate diagnosis.

References: [1] Terhal et al., 2018 [2] Dec 19, 2016 [3] Multiple synostoses syndrome-4 is characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss (Terhal et al., 2018). [4] A mild facial dysmorphism with a round face with frontal bossing and anteverted nostrils can be evident. Midline cleft palate, conductive hearing loss, joint ... [7] by D Krakow · 1998 [8] by BH Lee · 2014 [9] Multiple synostosis syndrome (SYNS) is a rare autosomal dominant skeletal disorder characterized by variable clinical features, including facial dysmorphism, ...

Multiple synostoses syndrome (MSS) 4, also known as Multiple synostoses syndrome-4, is a rare developmental bone disorder characterized by fusion of carpal and tarsal bones, as well as conductive hearing loss [2]. Diagnostic tests for MSS 4 are crucial in confirming the clinical diagnosis.

• Genetic testing: Genetic tests can be performed to detect pathogenic variants in patients affected with a clinical diagnosis of Symphalangism, proximal, Multiple synostoses syndrome [10]. This test is predicted to detect pathogenic variants in patients affected with MSS 4.
• Dynamic Tests: Eurofins Biomnis offers dynamic tests for Multiple synostoses syndrome 4, which include genetics testing and other diagnostic aids [4], [8].
• Clinical evaluation: A clinical evaluation by a healthcare professional is essential in diagnosing MSS 4. This includes a physical examination to assess the fusion of carpal and tarsal bones and conductive hearing loss.

It's worth noting that genetic testing for MSS 4 can be performed in the US and labs around the world [1]. However, it's always best to consult with a healthcare professional for medical advice and treatment.

Treatment Options for Multiple Synostoses Syndrome 4

Multiple synostoses syndrome 4 (SYNS4), also known as multiple synostoses syndrome, is a rare developmental bone disorder characterized by joint fusions in various parts of the body. While there are no specific treatments that can completely cure SYNS4, several management options and surgical interventions can help alleviate symptoms and improve quality of life.

Medical Management

• Regular systematic examinations: Regular check-ups with a healthcare professional can help monitor the progression of the condition and identify any potential complications early on [2].
• Hearing aids: For individuals with hearing loss associated with SYNS4, hearing aids can be beneficial in improving communication skills [9].

Surgical Interventions

• Surgical treatment for scoliosis: In patients with Shprintzen-Goldberg syndrome, surgical treatment for scoliosis may be necessary to correct spinal curvature and improve mobility [1].
• Tarsal coalitions surgery: Surgical treatment of tarsal synostosis has been performed in some cases, although the outcomes can vary [6].
• Joint fusions: In some instances, joint fusions may be necessary to alleviate pain and improve mobility in affected joints.

Important Considerations

• Consult a healthcare professional: It is essential to consult with a healthcare professional for personalized medical advice and treatment. They can help determine the best course of action based on individual needs [5].
• Limited surgical outcomes: The outcomes of surgical interventions, such as otomicrosurgery, may not be encouraging due to the complex nature of SYNS4 [2].

References

[1] Context 1 [2] Context 2 and Context 9 [5] Context 5 [6] Context 6

Multiple synostoses syndrome type 4 (SYNS4) is an autosomal dominant disorder characterized by carpal-tarsal coalition and otosclerosis-associated conductive hearing loss [3]. When considering the differential diagnosis for SYNS4, several conditions with joint fusions or joint dysfunction must be taken into