autosomal recessive Whistling face syndrome

Autosomal Recessive Whistling Face Syndrome

Whistling face syndrome, also known as Freeman-Sheldon syndrome, can be inherited in an autosomal recessive manner in rare cases. This form of the condition is characterized by a more severe and potentially life-threatening presentation.

• Inheritance: Autosomal recessive inheritance means that a child must inherit two copies of the mutated gene (one from each parent) to develop the condition.
• Clinical Features:
  • Microstomia: An exceptionally small mouth with pursed lips, giving a "whistling face" appearance.
  • Contractures: Permanent tightening of muscles, skin, tendons, and joints in the hands and feet.
  • Oropharyngeal abnormalities: Abnormalities in the mouth and throat area.
  • Scoliosis: A curvature of the spine.
• Severity: Autosomal recessive Whistling face syndrome is often more severe than the autosomal dominant form, with a higher risk of complications and potentially life-threatening outcomes.

According to summary by Altunhan et al., 2010, there are rare reports of presumably autosomal recessive inheritance in Whistling face syndrome. However, it's essential to note that this form of the condition is extremely rare and may present with a more severe clinical picture than the autosomal dominant form.

References: [1] Altunhan et al., 2010 (summary)

Distinctive Facial Features

The main signs and symptoms of autosomal recessive Whistling face syndrome, also known as Freeman-Sheldon syndrome, include:

• Microstomia: A small mouth with pursed lips [1][3][4]
• Whistling-face appearance: A distinctive facial appearance due to contractures in the face [2][7]
• Chin with V- or H-shaped creased: A characteristic chin shape [2]

Other Physical Features

In addition to these distinctive facial features, patients with Whistling face syndrome may also have:

• Prominent forehead and brow ridges: A prominent forehead and brow area [5]
• Midface hypoplasia: Underdevelopment of the midface area [5]
• Short nose: A short nasal bridge [5]
• Long philtrum: An elongated upper lip area [5]
• Deep-set eyes: Eyes that are deeply set in the orbit [9]

Musculoskeletal Features

Whistling face syndrome is also characterized by:

• Contractures: Contractures of the muscles and joints, leading to limited mobility [8]
• Clubbed feet: A condition where the feet are club-shaped due to contractures [9]
• Masklike whistling facies: A mask-like facial appearance due to contractures [9]

These physical features can vary in severity and may be accompanied by other symptoms, such as respiratory problems or feeding difficulties.

Diagnostic Tests for Autosomal Recessive Freeman-Sheldon Syndrome (Whistling Face Syndrome)

Autosomal recessive Freeman-Sheldon syndrome, also known as whistling face syndrome, is a rare genetic disorder that affects the muscles in the face and skull. While there are no specific diagnostic tests required to confirm the condition, various examinations and genetic testing can help diagnose it.

Physical Examination

• A physical examination by a qualified healthcare professional is essential to identify the characteristic features of Freeman-Sheldon syndrome, such as:
  • Microstomia (exceptionally small mouth) [1]
  • Pursed lips and whistling face appearance [1]
  • "H" or "V" shaped chin [1]

Genetic Testing

• Genetic testing on the MYH3 gene can confirm the diagnosis of Freeman-Sheldon syndrome. The test can identify mutations in the gene that cause the condition.
• In some cases, imaging scans such as x-ray, CT, or MRI may be performed to rule out other conditions that may present with similar symptoms [4].

Inheritance Pattern

• Autosomal recessive inheritance pattern is one of the ways Freeman-Sheldon syndrome can be passed on. This means that a child has to inherit the faulty gene from both parents to develop the condition [10].
• In some cases, the inheritance pattern may be unknown or autosomal dominant.

It's essential to consult with a qualified healthcare professional for an accurate diagnosis and guidance on the best course of action.

References:

[1] Context result 1 [3] Context result 3 [4] Context result 4 [10] Context result 10

Symptomatic treatment is the primary approach for Autosomal Recessive Whistling Face Syndrome

The treatment of Autosomal Recessive Whistling Face Syndrome (ARWFS) focuses on managing the symptoms and improving the quality of life for affected individuals. Since there is no specific therapy or cure for this condition, a multidisciplinary team of healthcare professionals works together to develop a personalized care plan.

• Early intervention with occupational and physical therapy can help improve mobility, strength, and range of motion in affected joints [7].
• Surgery may be necessary to correct contractures, improve joint function, or address other related issues [7].
• Pain management is essential to alleviate discomfort and improve overall well-being.
• Speech and language therapy can help individuals with ARWFS overcome communication challenges associated with the condition.

It's essential to note that each individual with ARWFS may require a unique treatment approach, taking into account their specific symptoms, needs, and medical history. A healthcare professional should be consulted for personalized guidance on managing this condition.

References: [7] - There is no specific therapy for FSS. However, patients benefit from early intervention with occupational and physical therapy and/or surgery. Life expectancy ...

The differential diagnosis for autosomal recessive Whistling face syndrome (also known as Freeman-Sheldon syndrome) primarily involves other distal arthrogryposes, such as:

• Digitotalar dymorphism: This condition lacks craniofacial features and is characterized by contractures of the hands and feet.
• Sheldon-Hall syndrome: Clinically less severe than Whistling face syndrome, this condition presents with similar symptoms but to a lesser extent.
• Gordon syndrome: Another distal arthrogryposis that shares some similarities with Whistling face syndrome.

These conditions can be differentiated from autosomal recessive Whistling face syndrome based on the presence of craniofacial features such as microstomia, puckered lips, and an H-shaped dimple of the chin. The severity and extent of joint contractures also vary among these conditions.

In addition to these distal arthrogryposes, other conditions that may be considered in the differential diagnosis include:

• Craniocarpotarsal dystrophy: This is another name for Whistling face syndrome.
• Freeman-Burian syndrome: An alternative name for Whistling face syndrome.
• Distal arthrogryposis 2A (DA2A): A condition that shares some similarities with Whistling face syndrome and is characterized by contractures of the hands and feet.

It's worth noting that the diagnosis of autosomal recessive Whistling face syndrome requires a comprehensive evaluation, including clinical examination, genetic testing, and imaging studies to rule out other conditions. [1][2][3][4][5]