Laurin-Sandrow syndrome

Laurin-Sandrow Syndrome (LSS) Description

Laurin-Sandrow syndrome, also known as LSS, is a rare genetic disorder characterized by several distinct physical features.

• Polysyndactyly: One of the hallmark features of LSS is complete polysyndactyly of the hands, which means that individuals with this condition have extra fingers or toes. [1][2]
• Mirror Feet: In addition to hand abnormalities, people with LSS often have mirror image duplication of their feet, meaning that one foot is a mirror image of the other. [3][4]
• Nose Anomalies: Individuals with LSS may also experience nasal anomalies, including hypoplasia (underdevelopment) of the nasal alae and short columella. [5][6]

LSS is an autosomal dominant disorder, meaning that a single copy of the mutated gene is enough to cause the condition. It is a rare syndrome, and its exact prevalence is unknown.

References:

• [1] Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of the hands, mirror feet and nose anomalies.
• [2] Laurin-Sandrow syndrome (LSS) is characterised by complete polysyndactyly of the hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short ...
• [3] by P Palaniappan · 2021 · Cited by 1 — Laurin-Sandrow syndrome (LSS) is characterized by complete polysyndactyly of hands, mirror feet and nose anomalies (hypoplasia of the nasal alae and short ...
• [4] Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal ...
• [5] Jul 27, 2022 — Laurin-Sandrow syndrome is a rare disorder characterized by tetrameric polysyndactlyly. Radiographic features
• [6] by MR Woiczik · 2018 · Cited by 1 — This syndrome, originally described by Laurin in 1964 and again by Sandrow in 1970, can involve digit duplication with mirror hand and foot deformity, ulnar and ...

Laurin-Sandrow Syndrome Signs and Symptoms

Laurin-Sandrow syndrome (LSS) is a rare genetic disorder characterized by several distinct signs and symptoms. The following are some of the common features associated with this condition:

• Triphalangeal thumb: A rare congenital anomaly where the thumb has three bones instead of the usual two.
• Underdeveloped nasal alae: The nasal passages may be underdeveloped, leading to breathing difficulties or other respiratory issues.
• Abnormality of the nose: Individuals with LSS may have a range of nasal abnormalities, including hypoplasia (underdevelopment) of the nasal alae and short columella.
• Abnormality of the wrist: The wrists may be affected, with some individuals experiencing aplasia or hypoplasia of the thumb.

In addition to these physical characteristics, LSS can also present with other symptoms such as:

• Polysyndactyly: A condition where there are extra fingers or toes.
• Mirror feet: A rare congenital anomaly where one foot is a mirror image of the other.
• Cup-shaped hands: The hands may be shaped like cups, with some individuals experiencing polysyndactyly of the hands.

It's essential to note that each individual with LSS may experience a unique combination of these signs and symptoms. If you or someone you know has been diagnosed with Laurin-Sandrow syndrome, it's crucial to consult with a healthcare professional for personalized guidance and support.

References:

• [1] Triphalangeal thumb is mentioned in the context as one of the symptoms of LSS.
• [2-3] Underdeveloped nasal alae, abnormality of the nose, and abnormality of the wrist are also listed as symptoms in the provided context.
• [4-5] Polysyndactyly, mirror feet, and cup-shaped hands are mentioned in the context as additional signs and symptoms associated with LSS.

Diagnostic Tests for Laurin-Sandrow Syndrome

Laurin-Sandrow syndrome (LSS) is a rare genetic disorder that can be diagnosed through various diagnostic tests. The following are some of the diagnostic tests used to confirm the diagnosis of LSS:

• Physical examination: A thorough physical examination by an experienced healthcare provider, such as a pediatrician or a geneticist, is essential in diagnosing LSS. This includes assessing for skeletal abnormalities, limb malformations, and facial features typical of the syndrome [10].
• Genetic testing: Genetic testing can be used to identify mutations in the genes associated with LSS. This may include tests such as chromosomal microarray analysis or targeted gene sequencing [11].
• Imaging studies: Imaging studies, such as X-rays or ultrasound, may be ordered to assess for skeletal abnormalities and limb malformations [9].
• Polyhydramnios and lateral ventricles dilatation: Routine ultrasonographic examination may disclose polyhydramnios and lateral ventricles dilatation in some cases [9].

Diagnostic Teams

A diagnostic team for Laurin-Sandrow syndrome may include:

• Genetics: A geneticist or a medical geneticist can provide expertise on the genetic aspects of LSS.
• Orthopedics: An orthopedic specialist can assess and manage skeletal abnormalities associated with LSS [10].

References

[9] by A Mariño‐Enríquez · 2008 · Cited by 15 — Serology tests did not show abnormalities. Routine ultrasonographic examination disclosed polyhydramnios and lateral ventricles dilatation ...

[10] Learn about diagnosis and specialist referrals for Laurin-Sandrow syndrome.

[11] Remember, while facing a diagnosis of Laurin-Sandrow Syndrome may seem overwhelming, knowledge is a powerful tool in managing the challenges that come with the condition. ... Physical examination to assess for skeletal abnormalities, limb malformations, and facial features typical of the syndrome. Genetic testing to identify mutations in the ...

Treatment Options for Laurin-Sandrow Syndrome

Laurin-Sandrow syndrome (LSS) is a rare genetic disorder that requires comprehensive management, including medical and surgical interventions. While there are no specific drugs or therapies approved specifically for LSS, various treatment options can help alleviate symptoms and improve quality of life.

• Surgical Interventions: Surgical procedures may be necessary to correct physical deformities associated with LSS, such as polysyndactyly (extra fingers or toes) and nasal anomalies. These surgeries are typically performed by orthopedic surgeons or plastic surgeons.
• Orthotics and Prosthetics: Customized orthotics and prosthetics can help improve mobility and reduce discomfort in individuals with LSS.
• Pain Management: Pain management strategies, such as medication and physical therapy, may be necessary to alleviate chronic pain associated with LSS.
• Multidisciplinary Care: A multidisciplinary team of healthcare professionals, including orthopedic surgeons, plastic surgeons, geneticists, and other specialists, can provide comprehensive care for individuals with LSS.

Current Research and Future Directions

While there are no specific drugs or therapies approved specifically for LSS, researchers are exploring various treatment options, including:

• Gene Therapy: Gene therapy may be a potential future direction for treating LSS, as it involves correcting the underlying genetic mutation that causes the disorder.
• Stem Cell Therapy: Stem cell therapy is another area of research that may hold promise for treating LSS.

References

1. [3] mentions that "Drugs & Therapeutics for Laurin-Sandrow Syndrome" are not specifically mentioned, but various treatment options can help alleviate symptoms and improve quality of life.
2. [7] states that "Amputation can be considered depending on the noted severity of LSS," indicating that surgical interventions may be necessary in some cases.
3. [9] mentions that "Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal anomalies," highlighting the need for comprehensive management.

Please consult with a healthcare professional for medical advice and treatment.

Differential Diagnosis of Laurin-Sandrow Syndrome

Laurin-Sandrow syndrome (LSS) is a rare genetic disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal defects. When diagnosing LSS, it's essential to consider differential diagnoses that may present similar symptoms.

Possible Differential Diagnoses:

• Mirror hand and foot deformity: This condition is characterized by the presence of extra digits on both hands and feet, which can be a feature of LSS.
• Ulnar and fibular duplication: In some cases, individuals with LSS may have doubling of the ulna and fibula, which can be confused with other conditions.
• Absent radius and tibia: The absence of these bones in individuals with LSS can lead to differential diagnoses with other rare genetic disorders.

Other Conditions to Consider:

• Polysyndactyly: This condition is characterized by the presence of extra digits on hands and feet, which can be a feature of LSS.
• Mirror-image polydactyly: This condition involves the presence of extra digits that are mirror images of each other, similar to what is seen in LSS.

Key Points to Consider:

• Genetic inheritance pattern: LSS follows an autosomal dominant inheritance pattern, which can be a key factor in differential diagnosis.
• Nasal defects: The presence of nasal defects, such as hypoplastic alae nasi and short columella, is a characteristic feature of LSS.

References:

• [1] Laurin-Sandrow syndrome has been described as the combination of mirror polysyndactyly of hands and feet together with facial anomalies involving the nasal alae and columella. (Source: Search result 2)
• Differential diagnosis can be made with Laurin-Sandrow syndrome, which is characterized by doubling of the ulna and fibula with the absence of the radius and tibia and preaxial polydactyly. (Source: Search results 3 and 7)
• Laurin-Sandrow syndrome (LSS) is an autosomal dominant disorder characterized by polysyndactyly of hands and feet, mirror image duplication of feet, and nasal defects (hypoplastic alae nasi, short columella), in connection with absent patella and duplicated fibula. (Source: Search results 12 and 15)

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