ischiocoxopodopatellar syndrome

Ischiocoxopodopatellar Syndrome (ICPPS): A Rare Autosomal Dominant Disorder

Ischiocoxopodopatellar syndrome, also known as small patella syndrome or coxopodopatellar syndrome, is a rare autosomal dominant disorder characterized by abnormalities in the development of certain bones. The main features of this syndrome include:

• Patellar aplasia or hypoplasia: The patellae (kneecaps) are either absent or underdeveloped.
• Pelvic anomalies: There are disruptions in the ossification (bone formation) of the ischia and inferior pubic rami, leading to various pelvic abnormalities.
• Anomalies of the feet: Other bone anomalies, particularly concerning the pelvis and feet, are also present.

This syndrome is caused by mutations in the TBX4 gene on chromosome 17q23.1-q23.2 [1][5]. The exact incidence at birth is difficult to evaluate due to the rarity of the condition, with less than 100 patients described in the literature [2].

Diagnosis of ICPPS can be suspected based on physical examination and imaging tests such as X-rays. Genetic testing can confirm the diagnosis [11].

It's essential to consult a healthcare professional for medical advice and proper diagnosis.

References:

[1] - Context result 3 [2] - Context result 2 [5] - Context result 12

Common Signs and Symptoms

Individuals affected by ischiocoxopodopatellar syndrome, also known as ischiopatellar dysplasia, commonly exhibit abnormalities in the patella and pelvic girdle. These may include:

• Absent or delayed ossification of the ischiopubic junction
• Infraacetabular axe cut notches
• Wide gap between the first and second toes
• Short fourth and fifth rays of the feet
• Pes planus (flat foot)

These symptoms can vary in severity and presentation, but they are commonly associated with this rare genetic condition.

Additional Signs and Symptoms

Other major signs and symptoms that may be present in individuals with ischiocoxopodopatellar syndrome include:

• Abnormalities of the head or neck
• Cleft palate or high palate
• Abnormality of limbs, such as coxa vara or hypoplasia of the lesser trochanter
• Patellar aplasia or hypoplasia

These signs and symptoms can be present at birth or may develop later in life.

References

[4] Individuals affected by ischiopatellar dysplasia commonly have abnormalities of the patella and pelvic girdle, such as absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches. [5] Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus (summary by Bongers et al., 2001).

Diagnostic Tests for Ischiocoxopodopatellar Syndrome

Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by hypoplasia of the patellas and various anomalies of the pelvis and feet. Diagnostic tests are essential to confirm the diagnosis of this condition.

• Imaging Tests: Imaging tests such as X-rays can help identify features that suggest ICPPS, including bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches [2][3].
• Genetic Testing: Genetic testing of the TBX4 gene is recommended to confirm the diagnosis of ICPPS. This type of testing can inform prognosis and guide treatment decisions [9]. Sequence analysis of the entire coding region, Next-Generation (NGS)/Massively Parallel Sequencing (MPS), and other advanced genetic testing methods are available for diagnostic purposes [7][14].
• Clinical Molecular Genetics Test: A clinical molecular genetics test is also available for Coxopodopatellar syndrome, which includes sequence analysis of the entire coding region [8].

Early Detection and Diagnosis

Establishing care with an engaged and dedicated primary care provider (PCP) may improve care and shorten the time it takes to reach an accurate diagnosis. A PCP can help you get specialist referrals, order diagnostic tests, and coordinate providers as you build a healthcare team [11].

Treatment Options for Ischiocoxopodopatellar Syndrome

Ischiocoxopodopatellar syndrome (ICPPS), also known as small patella syndrome, is a rare autosomal dominant disorder characterized by hypoplasia of the patellae and various anomalies of the pelvis and feet. While there is no specific treatment for ICPPS, various management strategies can help alleviate symptoms and improve quality of life.

• Pain Management: Pain relief is often the primary concern in managing ICPPS. Over-the-counter pain medications such as acetaminophen or ibuprofen may be prescribed to help manage discomfort.
• Physical Therapy: Physical therapy can help maintain range of motion, strengthen surrounding muscles, and improve mobility. A physical therapist can create a customized exercise program to address specific needs.
• Orthotics and Assistive Devices: Orthotic devices such as shoe inserts or splints can provide support and stability for the affected limbs. Assistive devices like walkers or canes may be necessary to aid in mobility.
• Surgery: In some cases, surgical intervention may be required to correct deformities or alleviate pain. However, this should only be considered under the guidance of a qualified specialist.

Important Considerations

It is essential to consult with a healthcare professional for proper evaluation and management of ICPPS. A multidisciplinary approach involving orthopedic specialists, physical therapists, and other relevant experts can provide comprehensive care.

References

• [3] Ischiopatellar dysplasia is a rare autosomal dominant disorder characterized by a hypoplasia of the patellae as well as other bone anomalies, especially concerning the pelvis and feet. It is also known as small patella syndrome, with earlier synonyms being Scott-Taor syndrome, Coxo-podo-patellar syndrome, Patella aplasia, coxa vara, tarsal synostosis, Congenital coxa vara, patella ...
• [6] An autosomal dominant bone disease characterized by patellar aplasia or hypoplasia and by anomalies of the pelvis and feet, including disrupted ossification ...

Note: The information provided is based on the search results and should not be considered as a substitute for professional medical advice.

Differential Diagnosis of Ischiocoxopodopatellar Syndrome

Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by hypoplasia of the patellae and various anomalies of the pelvis and feet. When diagnosing ICPPS, it's essential to consider other conditions that may present with similar symptoms.

Conditions to Consider in Differential Diagnosis:

• Dubowitz syndrome (OMIM 223370): An autosomal recessive disorder consisting of blepharophimosis, ptosis, and intellectual disability. While not directly related to ICPPS, it's essential to rule out this condition due to its overlapping symptoms.
• Nail-patella syndrome: A rare genetic disorder characterized by nail dystrophy, elbow abnormalities (such as radial dysplasia), and sometimes patellar aplasia or hypoplasia. This condition shares some similarities with ICPPS, making it a crucial consideration in differential diagnosis.
• Isolated patellar hypoplasia: A condition where the patellae are underdeveloped, which can be observed as a key feature in isolated familial patella cases.

Key Features to Consider:

When considering differential diagnosis for ICPPS, look out for the following features:

• Bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches
• Wide gap between the first and second toes
• Short fourth and fifth rays

Genetic Testing and Imaging Studies:

Diagnosis of ICPPS can be confirmed with genetic testing, which may reveal mutations in the TBX4 gene. Imaging studies such as X-rays are also essential to rule out other conditions that may present with similar symptoms.

References:

[1] Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by a/hypoplasia of the patellas and various anomalies of the pelvis and feet. Pelvic anomalies include bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays... (Source: [10])

[12] Ischiocoxopodopatellar syndrome (OMIM 147891) AD: Patellar aplasia or hypoplasia: ... Other Disorders to Consider in the Differential Diagnosis. Dubowitz syndrome (OMIM 223370) is an autosomal recessive disorder of uncertain etiology consisting of blepharophimosis, ptosis, ... (Source: [12])

[14] The differential diagnosis of SPS is either an isolated finding of displaced patellae or the “nail-patella syndrome” (iliac horns, elbow abnormalities, nail dystrophy). No specific precautions with this medical condition. (Source: [14])