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popliteal pterygium syndrome
ICD-10 Codes
Related ICD-10:
Description
Popliteal pterygium syndrome, also known as Gorlin syndrome, is a rare genetic disorder that affects the development of the face, skin, and genitals.
Key Features:
- Cleft palate and cleft lip are common clinical manifestations [6].
- Popliteal webbing, which refers to a dense web-like structure in the popliteal area (behind the knee), is a characteristic feature of this syndrome [7].
- Other symptoms may include
Additional Characteristics
- Cleft palate and cleft lip
- Popliteal webbing
Signs and Symptoms
Popliteal pterygium syndrome (PPS) is a rare genetic disorder characterized by various physical anomalies. The signs and symptoms of PPS can vary from person to person, but they often include:
- Facial abnormalities: Cleft palate, cleft lip, lower lip pits or sinuses, and other facial deformities are common in individuals with PPS [1][2].
- Limb findings: An extensive web running from behind the knee down to the heel (90%), malformed toenails, and webbed toes are frequently observed [3][4].
- Genital abnormalities: Webbing of the lower limbs, syndactyly (webbed fingers or toes), hypoplasia of the labia majora, and bifid or absent scrotum can also be present [5][6].
In addition to these physical anomalies, individuals with PPS may experience other symptoms such as short stature, vertebral defects, and multiple joints in a single limb. The syndrome is often associated with severe flexion of the knee and equinus deformity of the foot, which can lead to mobility issues.
It's essential to note that the severity and combination of symptoms can vary significantly among individuals with PPS, making each case unique [7].
References: [1] Context 2 [2] Context 4 [3] Context 5 [4] Context 6 [5] Context 9 [6] Context 9 [7] Context 7
Additional Symptoms
- Cleft palate
- cleft lip
- lower lip pits or sinuses
- facial deformities
- extensive web behind knee to heel
- malformed toenails
- webbed toes
- genital abnormalities
- hypoplasia of labia majora
- bifid or absent scrotum
- vertebral defects
- multiple joints in a single limb
- short stature
Diagnostic Tests
Popliteal pterygium syndrome (PPS) can be diagnosed through various diagnostic tests, which are essential for confirming the condition and ruling out other potential causes.
Genetic Analysis Genetic analysis is a recommended diagnostic test for individuals with a personal and/or family history of PPS. This test provides a molecular diagnosis of the disorder, ensuring that the correct genetic mutation is identified [7][9].
Imaging Studies Imaging studies, such as MRI (Magnetic Resonance Imaging), can be used to screen the anatomic location of the popliteal artery and peroneal nerves in patients with PPS. This helps identify any potential complications or abnormalities associated with the condition [6].
Other Diagnostic Tests While not specifically mentioned in the search results, other diagnostic tests such as physical examinations, medical histories, and laboratory tests may also be used to support a diagnosis of PPS.
It's essential to consult with a qualified healthcare professional for an accurate diagnosis and to determine the best course of action. They can help interpret the results of these diagnostic tests and provide guidance on further management.
References: [6] by LF Donnelly · 2002 · Cited by 15 — MR imaging offers a means of screening the anatomic location of the popliteal artery and peroneal nerves in patients with popliteal pterygium syndrome who are ... [7] Genetic analysis to provide a molecular diagnosis of this disorder. Recommended for individuals with a personal and/or family history of this disorder to ensure ... [9] Integrated disease information for Popliteal Pterygium Syndrome including associated genes, mutations, phenotypes, pathways, drugs, and more - integrated ...
Additional Diagnostic Tests
- Physical Examination
- Laboratory Tests
- Imaging Studies
- Medical History
- Genetic Analysis
Treatment
Popliteal pterygium syndrome (PPS) is a rare genetic disorder characterized by abnormalities in the skin and soft tissues, particularly in the lower lip and surrounding areas. While there are no specific "drug treatments" for PPS, various medications may be used to manage its symptoms.
- Antibiotics: Infections near the center of the lower lip, which can appear as depressions (pits) due to salivary and mucous accumulation [8], may require antibiotic treatment. However, this is not a direct treatment for PPS.
- Pain management: Pain relief medications such as acetaminophen or ibuprofen may be prescribed to alleviate discomfort associated with the condition [9].
- Surgical interventions: While not a "drug treatment," surgical excision of fibrous bands and Z-plasty at an early stage can help lengthen skin and soft tissues, which is one of the most recommendable procedures for PPS patients [1]. This may involve shortening the femur or excising pterygium in cases where limb deformity is present.
- Multidisciplinary treatment: A comprehensive approach involving a specialized team, including surgeons, orthodontists, and speech therapists, can help manage symptoms of cleft lip and/or palate associated with PPS [3].
It's essential to note that the manifestation of PPS varies among individuals, and treatment is adjusted accordingly. In some cases, intra-oral bands may require immediate surgery due to their potential for causing harm [9].
Recommended Medications
- Multidisciplinary treatment
- Antibiotics
- Pain management
- Surgical interventions
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Popliteal pterygium syndrome (PPS) is a rare genetic disorder characterized by various clinical features, including orofacial anomalies and musculoskeletal abnormalities. When considering the differential diagnosis for PPS, it's essential to rule out other conditions that may present with similar symptoms.
Similarities with Van der Woude Syndrome
Differential diagnosis between mildly affected patients with the popliteal pterygium syndrome and those with Van der Woude syndrome is crucial [7]. Both conditions share some similarities, such as cleft lip and/or palate, lower lip pits, and other orofacial anomalies. However, PPS typically presents with more extensive musculoskeletal and genitourinary abnormalities.
Other Conditions to Consider
The differential diagnosis for PPS also includes syndromes with orofacial anomalies and limb defects [9]. Some of these conditions may present with similar symptoms, such as:
- Cleft lip and/or palate
- Lower lip pits
- Orofacial clefts
- Musculoskeletal abnormalities (e.g., popliteal pterygium)
- Genitourinary anomalies
Key Differentiators
While the differential diagnosis for PPS is complex, some key differentiators can help distinguish it from other conditions:
- The presence of popliteal pterygium, a characteristic feature of PPS [3]
- Extensive musculoskeletal and genitourinary abnormalities in PPS patients
- Cleft lip and/or palate with or without lower lip pits
References
[1] Popliteal pterygium syndrome may be inherited from an autosomal dominant genetic mutation in the IRF6 gene on chromosome 1. This gene is a transcription factor ...
[3] Diagnosis is based on the presence of the characteristic range of clinical findings (cleft lip with or without cleft palate, popliteal pterygium, genital and ...
[5] Comparisons may be useful for a differential diagnosis: Popliteal pterygium syndrome is a disorder characterized by cleft lip and/or cleft palate, lower lip ...
[7] Differential diagnosis between mildly affected patients with the popliteal pterygium syndrome ... popliteal pterygium syndrome and those with Van der Woude ...
[9] by NW Shanko · 2024 — ... syndrome and PPS. The differential diagnosis includes syndromes with orofacial anomalies and limb defects.
Additional Differential Diagnoses
- or palate, lower lip pits, orofacial clefts, musculoskeletal abnormalities, genitourinary anomalies)
- Van der Woude syndrome
Additional Information
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- popliteal web syndrome
- IAO_0000115
- A syndrome characterized by abnormal development of the face, skin and genitals. Clinical expressions of the disease include cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail. It has_material_basis_in mutations in the IRF6 gene on chromosome 1.
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