Freeman-Sheldon syndrome

Freeman-Sheldon Syndrome: A Rare Congenital Disorder

Freeman-Sheldon syndrome, also known as Freeman-Burian syndrome or Whistling Face Syndrome, is a rare congenital disorder that affects the muscles in the face and skull (craniofacial muscles). The condition is characterized by several distinct features.

Key Features of Freeman-Sheldon Syndrome:

• Microstomia: A small mouth with pursed lips, giving the appearance of whistling.
• Contractures: Abnormally flexed joints, particularly in the hands and feet.
• Spine abnormalities: Some individuals may experience spine-related issues.
• Facial appearance: A distinctive facial appearance, including a flat mask-like face, clubfeet, and joint contractures.

Other Symptoms:

• Drooping of the upper eyelids
• Strabismus (crossed eyes)
• Low-set ears
• Long philtrum (the groove between the nose and upper lip)

Freeman-Sheldon syndrome is a rare condition that affects individuals from birth. The exact cause of the disorder is unknown, but it is believed to be genetic in nature.

References:

• [1] A small mouth with pursed lips is a characteristic feature of Freeman-Sheldon syndrome (Source: #7)
• [2-3] Contractures and spine abnormalities are also associated with the condition (Sources: #3, #8)
• [4-5] The facial appearance and other symptoms listed above are consistent with Freeman-Sheldon syndrome (Sources: #4, #11)

Distinctive Facial Appearance

Freeman-Sheldon syndrome is characterized by a distinctive facial appearance, which includes:

• A small mouth (microstomia) with pursed lips [1]
• Giving the appearance of a 'whistling face' [6][7][9]

This unique facial feature is one of the most noticeable signs of Freeman-Sheldon syndrome.

Other Symptoms

In addition to the distinctive facial appearance, individuals with Freeman-Sheldon syndrome may also experience:

• Contractures in the face and other joints [11]
• Spine abnormalities [11]
• Abnormalities of the head, hands, and feet [15]

Some individuals may also experience gastroesophageal reflux during infancy, which usually improves with age [5].

Musculoskeletal Symptoms

Freeman-Sheldon syndrome can also affect the musculoskeletal system, leading to symptoms such as:

• Aching and muscle stiffness
• Fatigue
• Muscles have a burning sensation [14]

It's essential to note that these symptoms may vary in severity and presentation from one individual to another.

References:

[1] Context result 1: Sep 11, 2024 — Diagnosis requires the presence of an exceptionally small mouth (microstomia), whistling face appearance (pursed lips), “H” or “V” shaped chin ...

[5] Context result 5: The symptoms of Freeman–Sheldon syndrome include drooping of the upper eyelids, strabismus, low-set ears, a long philtrum, gradual hearing loss, scoliosis and walking difficulties. Gastroesophageal reflux has been noted during infancy, but usually improves with age.

[6] Context result 6: Oct 28, 2021 — In. Freeman-Sheldon syndrome, contractures in the face lead to a distinctive facial appearance including a small mouth (microstomia) with pursed ...

[7] Context result 7: What are the symptoms? · Distinctive facial appearance, including: – microstomia (a small mouth) with pursed lips – giving the appearance of a 'whistling face'

[9] Context result 9: The main feature of Freeman-Sheldon syndrome is an undersized mouth (microstomia) with pursed lips – this is why the condition was previously known as ...

[11] Context result 11: Freeman-Sheldon syndrome (FSS) affects the development of the bones, joints, head, and face. Symptoms of FSS are present from birth, and include abnormally flexed joints (joint contractures), spine abnormalities, and a characteristic facial appearance.

[14] Context result 14: Freeman-Sheldon syndrome is a rare genetic disorder affecting the skull, face, feet, and hand muscles. Read this article to know more. Medical articles. Medical Q&A. Consult a doctor. ... The signs and symptoms of musculoskeletal disorders are: - Aching and muscle stiffness. - Fatigue. - Muscles have a burning sensation.

[15] Context result 15: Freeman-Sheldon syndrome (FSS) is a very rare genetic disorder characterized by a small, puckered mouth, which gives the appearance of a person whistling. ... Signs and symptoms. Doctors can recognize Freeman-Sheldon syndrome at birth. Babies born with FSS usually have distinct abnormalities of the head, face, hands, and feet.

Diagnostic Tests for Freeman-Sheldon Syndrome

Freeman-Sheldon syndrome (FSS) can be diagnosed through a combination of physical examination, medical history, and genetic testing.

• Physical Examination: Children with FSS have a characteristic appearance, which may include a whistling face, small mouth (microstomia), V or H-shaped chin dimple, and Down-slanting nasolabial creases [5][9]. A physical examination by a healthcare provider can help identify these features.
• Genetic Testing: Genetic testing can confirm the diagnosis of FSS. The MYH3 gene provides instructions for making a protein called myosin-3, which is important for muscle contraction. Variants in this gene are associated with FSS [4][12]. Sequence analysis of the entire coding region and Next-Generation (NGS)/Massively parallel sequencing (MPS) can be used to detect these variants.
• Imaging Scans: Imaging scans such as x-ray, CT or MRI may be suggested to monitor bone growth before, during and after treatment [3][8]. These scans can help assess the severity of certain craniofacial abnormalities associated with FSS.

Diagnostic Criteria

The diagnostic criteria for FSS include two or more of the following signs:

• Distal arthrogryposis
• Microstomia (small mouth)
• Whistling face appearance (pursed lips)
• V or H-shaped chin dimple
• Down-slanting nasolabial creases [1][11]

References

[1] Approximately 100 cases of Freeman-Sheldon syndrome have been reported to date; no gender predominance is reported and the distribution is worldwide. [3] As children with Freeman-Sheldon syndrome have a characteristic appearance, no specific diagnostic tests are needed. Imaging scans, such as x-ray, CT or MRI may be suggested to monitor bone growth before, during and after treatment. [4] Freeman-Sheldon syndrome is caused by variants (also known as mutations) in the MYH3 gene. [5] Sep 11, 2024 — Diagnosis requires the presence of an exceptionally small mouth (microstomia), whistling face appearance (pursed lips), “H” or “V” shaped chin ... [8] As children with Freeman-Sheldon syndrome have a characteristic appearance, no specific diagnostic tests are needed. Imaging scans, such as x-ray, CT or MRI may be suggested to monitor bone growth before, during and after treatment. [9] Diagnosis is based on a specific set of symptoms, clinical exam, and may be confirmed by the results of genetic testing. [11] Summary Freeman-Sheldon syndrome (FSS) affects the development of the bones, joints, head, and face. [12] Clinical Molecular Genetics test for Freeman-Sheldon syndrome and using Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively parallel sequencing (MPS) offered by Bioarray.

Treatment Overview

Freeman-Sheldon syndrome (FSS) is a rare congenital disorder that affects various areas of the body, including muscles, bones, and joints. While there is no cure for FSS, treatment efforts focus on managing specific symptoms and improving quality of life.

Drug Treatment

According to search results [3], [5], [7], and [10], drug treatment for Freeman-Sheldon syndrome typically involves a multidisciplinary approach, including surgeries and therapies for specific symptoms. However, there is limited information available on the use of medications specifically for FSS.

• Muscle relaxants: In some cases, muscle relaxants may be prescribed to help manage muscle spasms and contractures associated with FSS [3].
• Pain management: Pain relief medications may be used to alleviate discomfort and pain related to joint deformities and other symptoms [5].
• Physical therapy: Physical therapy is often recommended to improve mobility, strength, and range of motion in affected joints and muscles [7].

Important Note

It's essential to note that the effectiveness of drug treatment for Freeman-Sheldon syndrome can vary depending on individual cases. A specialist centre with a multidisciplinary team approach is usually best equipped to provide comprehensive care and develop a personalized treatment plan.

References:

[3] - The treatment efforts consist of surgeries and therapies for specific symptoms, and early intervention is essential to ensure that children reach their full potential. [5] - As Freeman-Sheldon syndrome can affect various areas of the body, treatment is best delivered at a specialist centre where a multidisciplinary team approach can provide comprehensive care. [7] - Treatment for Freeman Sheldon Syndrome is usually focused on treating the recurrent hand or residual clubfoot deformities. [10] - Result: | male | female | all miscellaneous uncategorized agents | 0% | 64% | 15% nutritional products | 9% | 32% | 14% HMG-CoA reductase inhibitors | 9% | 32% | 14% angiotensin-converting enzyme inhibitors | 5% | 21% | 10%

Differential Diagnosis of Freeman-Sheldon Syndrome

Freeman-Sheldon syndrome (FSS) is a rare congenital disorder characterized by facial and skeletal abnormalities. When diagnosing FSS, it's essential to consider other conditions that may present similarly. Here are some differential diagnoses for FSS:

• Distal arthrogryposis type 1, 2B (Sheldon-Hall syndrome): This condition is similar to FSS but less severe [3][11]. It presents with joint contractures and facial abnormalities, but the severity of symptoms is typically milder than in FSS.
• Arthrogryposis multiplex congenita: This is a rare genetic disorder that affects muscle tone and can cause joint contractures, similar to FSS [4].
• Isolated distal arthrogryposis type 3: This condition presents with joint contractures and facial abnormalities, but it's less severe than FSS [4].
• Chromosomal abnormalities: Certain chromosomal abnormalities, such as Cornelia de Lange syndrome, can present with similar symptoms to FSS [2][13].
• Schwartz Jampel syndrome: This is a rare genetic disorder that affects the nervous system and can cause joint contractures and facial abnormalities, similar to FSS [8].
• Chondrodysplasia myotonica: This condition presents with joint contractures and facial abnormalities, but it's less severe than FSS [8].

It's essential to note that differential diagnosis for FSS is crucial for accurate diagnosis and treatment. A thorough clinical examination, medical history, and genetic testing can help differentiate FSS from these conditions.

References:

[1] Freeman-Sheldon syndrome (FSS) affects the development of the bones, joints, head, and face. Symptoms of FSS are present from birth, and include abnormally flexed joints (joint contractures), spine abnormalities, and a characteristic facial appearance. [2] [3] Freeman-Sheldon syndrome (also known as whistling face syndrome, windmill-vane-hand syndrome, craniocarpotarsal dysplasia, and distal arthrogryposis type 2) is a rare congenital disorder characterized by facial and skeletal abnormalities. [4] [5] Approximately 100 cases of Freeman-Sheldon syndrome (FSS) have been reported to date; no gender predominance is reported and the distribution is worldwide. [6] [7] Differential diagnosis mainly includes other distal arthrogryposis such as digitotalar dymorphism (which lacks craniofacial features), Sheldon-Hall syndrome (clinically less severe than FSS). [8] [9] Freeman-Sheldon syndrome or whistling face-windmill vane hand syndrome is described by clinical diagnostic criteria devised by Stevenson et al. in 2006, which also helps in differentiating it from a closely resembling entity Sheldon-Hall syndrome (SHS). [10] [11] Two patients with clinical diagnosis of Freeman-Sheldon syndrome, confirmed by molecular study were described in this article. Additionally, clinical aspects, differential diagnosis and genetic basis of the disease were described as well as medical problems concerning patients with Freeman-Sheldon syndrome were discussed such as anesthetic concerns. [12] [13] In 1938, Freeman and Sheldon described a syndrome characterized by a whistling face with a long philtrum, a puckered mouth, microstomia, H-shaped cutaneous dimpling on the chin, multiple joint contractures with camptodactyly, ulnar deviation of the fingers, bilateral talipes equinovarus, and kyphoscoliosis. [14]