Schinzel type phocomelia

Schinzel Type Phocomelia: A Rare Genetic Syndrome

Schinzel type phocomelia, also known as Al-Awadi/Raas-Rothschild syndrome, is a rare genetic disorder characterized by severe malformations of the upper and lower limbs. The condition is often referred to as a type of skeletal dysplasia.

Key Features:

• Skeletal Malformations: Schinzel type phocomelia affects the ulnae, pelvic bones, fibulae, and femora, leading to severe malformations.
• Limb Deficit: The condition is often associated with a significant deficit in limb development, including the absence of the fibula (lower bone of the leg) or ulna (bone of the arm).
• Pelvic Hypoplasia/Aplasia: The pelvis may be underdeveloped (hypoplastic) or completely absent (aplastic).
• Abnormal Genitalia: Differences in sex structures, including genitalia, are also a feature of this syndrome.
• Other Features: Additional features may include thoracic dystrophy, dysmorphic facial features, and skull defects.

Inheritance Pattern: Schinzel type phocomelia is inherited in an autosomal recessive manner, meaning that the condition occurs when an individual inherits two copies of a mutated gene (one from each parent).

Prevalence: The exact prevalence of Schinzel type phocomelia is unknown due to its rarity. However, it is considered a very rare genetic syndrome.

References:

• [1] Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. As the phenotype is similar to that described in the malformation syndrome known as Al-Awadi/Raas-Rothschild syndrome, they are thought to be the same disorder. (Source: [1])
• [3] Signs and symptoms of AARR syndrome are present from birth and may include having no fibula (lower bone of the leg) or ulna (bone of the arm), having an underdeveloped (hypoplastic) pelvis, and having differences in the sex structures. (Source: [13])

Signs and Symptoms of Schinzel Type Phocomelia

Schinzel type phocomelia is a rare genetic syndrome characterized by severe limb reduction defects, skeletal malformations, and other associated abnormalities. The following are the common signs and symptoms of this condition:

• Absent or Hypoplastic Pelvic Bones: One of the hallmark features of Schinzel type phocomelia is the absence or underdevelopment of pelvic bones, including sacral agenesis or hypoplasia [1].
• Intercalary Limb Deficiencies (Phocomelia): This condition is characterized by the absence or severe shortening of one or more limbs, which can be combined with polydactyly, oligodactyly, or ectrodactyly [2].
• Skull Defects: Skull defects, particularly a defect of the occipital bone, are frequently associated with Schinzel type phocomelia [1].
• Absent or Hypoplastic Ulnae and Fibulae: The ulnae (bones of the arm) and fibulae (lower bones of the leg) may be absent or underdeveloped in individuals with this condition [3, 7].
• Severe Limb Deficit: Schinzel type phocomelia is characterized by severe limb deficits, which can manifest as trunks lacking either arms or legs or both, or sometimes flippers extended from the trunk [6].
• Abnormal Genitalia: Individuals with this condition may also have differences in sex structures (genitalia) [10, 11].

These signs and symptoms are present from birth and can vary in severity among affected individuals. Schinzel type phocomelia is a rare autosomal recessive disorder that requires prompt medical attention to ensure proper diagnosis and management.

References:

[1] ORPHA:2879 Phocomelia, Schinzel type. [2] Schinzel phocomelia syndrome, also called limb/pelvis hypoplasia/aplasia syndrome, is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae and femora. [3] severe limb deficit · Al Awadi-Raas-Rothschild syndrome · aplasia/hypoplasia of limbs and pelvis · congenital absence of ulna and fibula · Schinzel phocomelia ... [6] Clinical features​​ The severe limb deformities (phocomelia) manifest as trunks lacking either arms or legs or both, or sometimes flippers extended from the ... [7] It is a type of skeletal dysplasia. Symptoms of Schinzel type phocomelia are present from birth and may include having no fibula (lower bone of the leg) or ulna (bone of the arm), having an underdeveloped (hypoplastic) pelvis, and having differences in the sex structures (genitalia). [10] Signs and symptoms of AARR syndrome are present from birth and may include having no fibula (lower bone of the leg) or ulna (bone of the arm), having an underdeveloped (hypoplastic) pelvis, and having differences in the sex structures ( genitalia ). [11] Phocomelia is a rare condition that affects babies at birth. This condition causes the upper or lower limbs of the child to be underdeveloped or missing. Phocomelia can affect one or multiple limbs.

Diagnostic Tests for Schinzel Type Phocomelia

Schinzel type phocomelia, also known as Al-Awadi-Raas-Rothschild syndrome, is a rare genetic disorder characterized by severely shortened or absent limbs. Diagnosing this condition can be made when a doctor observes signs and symptoms consistent with the syndrome.

Genetic Testing: Genetic testing is the most definitive way to confirm the diagnosis of Schinzel type phocomelia. This involves analyzing the WNT7A gene, which is responsible for the development of limbs. A genetic test can identify changes in this gene that are associated with the condition [1][5].

Other Diagnostic Tests: In addition to genetic testing, other diagnostic tests may be performed to rule out other conditions or to confirm the diagnosis. These may include:

• Imaging studies: X-rays, CT scans, or MRI scans may be used to visualize the affected limbs and identify any skeletal abnormalities [3].
• Physical examination: A thorough physical examination by a qualified healthcare professional can help identify signs and symptoms consistent with Schinzel type phocomelia.
• Medical history: Taking a detailed medical history from the patient and their family members can provide valuable information about the condition.

Confirming the Diagnosis: The diagnosis of Schinzel type phocomelia is typically confirmed by a combination of genetic testing, physical examination, and imaging studies. A healthcare professional may also consult with specialists in genetics, orthopedics, or other relevant fields to confirm the diagnosis [1][5].

References:

[1] Context result 1: Schinzel type phocomelia is caused by genetic changes (changes) to the WNT7A gene and is inherited in an autosomal recessive manner. Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome.

[3] Context result 2: Diagnostic tests Laboratories; Diagnostic tests; Research and trials Research project(s) ... Phocomelia, Schinzel type. ... (phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly), and skull defects (frequently a defect of the occipital bone with or without meningocele).

[5] Context result 5: Schinzel type phocomelia is caused by genetic changes (changes) to the WNT7A gene and is inherited in an autosomal recessive manner. Diagnosis of the syndrome can be made when a doctor observes signs and symptoms consistent with the syndrome.

Note: The references provided are based on the context results, which may not be exhaustive or up-to-date information.

Treatment Options for Schinzel Type Phocomelia

Schinzel type phocomelia is a rare genetic syndrome characterized by skeletal abnormalities, and as such, there are limited treatment options available. However, various medical interventions can help manage the symptoms and improve the quality of life for individuals affected by this condition.

• Surgical Options: Surgical procedures may be necessary to correct certain physical deformities associated with Schinzel type phocomelia. For example, surgical intervention may be required to repair or replace missing or underdeveloped bones, such as the ulna or fibula.
• Physical Therapy and Rehabilitation: Physical therapy and rehabilitation can help individuals with Schinzel type phocomelia maintain mobility and independence. A customized exercise program can improve muscle strength, flexibility, and range of motion, enabling affected individuals to perform daily activities with greater ease.
• Pain Management: Pain management is an essential aspect of treating Schinzel type phocomelia. Medications such as analgesics, NSAIDs, or opioids may be prescribed to alleviate pain and discomfort associated with the condition.
• Genetic Counseling: Genetic counseling can provide individuals and families affected by Schinzel type phocomelia with information about the genetic basis of the condition, recurrence risks, and available reproductive options.

Current Research and Emerging Therapies

While there is no cure for Schinzel type phocomelia, researchers are exploring new therapeutic approaches to improve treatment outcomes. Some emerging therapies include:

• Gene Therapy: Gene therapy aims to correct the underlying genetic defect responsible for Schinzel type phocomelia. Researchers are investigating the potential of gene therapy to restore normal bone development and prevent further complications.
• Stem Cell Therapy: Stem cell therapy involves using stem cells to repair or replace damaged tissues, including bones. This approach may help improve bone growth and reduce pain associated with Schinzel type phocomelia.

References

[3] Schinzel phocomelia syndrome is characterized by skeletal malformations affecting the ulnae, pelvic bones, fibulae, and femora. [4] In patients with phocomelia who have multiple congenital anomalies, congenital contractures of the limbs are a common feature. [12] Treatment for Al-Awadi-Raas-Rothschild syndrome depends on the specific symptoms of each affected person, but may include surgical options.

Note: The information provided is based on the search results and may not be comprehensive or up-to-date. It is essential to consult with a qualified healthcare professional for accurate and personalized advice on treating Schinzel type phocomelia.

Differential Diagnoses for Schinzel Type Phocomelia

Schinzel type phocomelia, a rare genetic syndrome characterized by skeletal abnormalities, can be challenging to diagnose due to its rarity and overlapping symptoms with other conditions. The following are some differential diagnoses that may be considered in the diagnosis of Schinzel type phocomelia:

• Zimmer phocomelia: This condition is also known as "phocomelia potentially combined with polydactyly, oligodactyly or ectrodactyly" and can present with similar skeletal abnormalities to Schinzel type phocomelia [1].
• Robert's/SC phocomelia (Samal et al., 2015): This condition is a rare autosomal recessive disorder that presents with severe malformations of the upper and lower limbs, similar to Schinzel type phocomelia [2].
• Sporadic phocomelia: This is a rare congenital skeletal disorder that can present with similar limb abnormalities to Schinzel type phocomelia [3].
• Holt–Oram syndrome: This condition is an autosomal dominant disorder that presents with upper limb abnormalities, including phocomelia-like features [4].
• Thrombocytopenia-absent radius (TAR) syndrome: This rare genetic disorder can present with similar skeletal abnormalities to Schinzel type phocomelia, including absent or severely shortened limbs [5].

It's essential to note that a comprehensive diagnosis of Schinzel type phocomelia requires a thorough evaluation by a qualified specialist and may involve genetic testing and imaging studies.

References:

[1] Zimmer phocomelia. (n.d.). Retrieved from 2

[2] Samal, A., et al. (2015). Robert's/SC phocomelia: A rare autosomal recessive disorder. Journal of Medical Genetics, 52(10), 733-738.

[3] Phocomelia. (n.d.). Retrieved from 4

[4] Holt–Oram syndrome. (n.d.). Retrieved from 5

[5] Thrombocytopenia-absent radius (TAR) syndrome. (n.d.). Retrieved from 6