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McKusick-Kaufman syndrome
Description
McKusick-Kaufman Syndrome (MKS) is a rare, genetic disorder that affects the development of multiple body systems.
- Genitourinary Malformations: In females, MKS is characterized by the accumulation of fluid in the vagina and uterus, known as hydrometrocolpos. This can cause a large cystic abdominal mass to form.
- Postaxial Polydactyly: Extra fingers or toes, typically on the hands or feet, are a common feature of MKS.
- Congenital Heart Defects: Individuals with MKS often have heart defects, which can range from mild to severe.
In males, MKS is associated with genital malformations, such as hypospadias (a condition where the urethra opens on the underside of the penis), cryptorchidism (undescended testes), and chordee (a curvature of the penis).
MKS is an autosomal recessive disorder, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition.
References:
- [1] McKusick-Kaufman syndrome is characterized by the combination of postaxial polydactyly (PAP), congenital heart disease (CHD), and hydrometrocolpos (HMC) in females and genital malformations in males. ([Source 14])
- The condition affects the development of multiple body systems, including the genitourinary system, hands and feet, and heart. ([Sources 10, 15])
- MKS is a rare, genetic disorder that is inherited in an autosomal recessive pattern. ([Sources 8, 9])
Additional Characteristics
- Chordee
- Cryptorchidism
- Hypospadias
- Congenital Heart Defects
- Postaxial Polydactyly
- Genitourinary Malformations
Signs and Symptoms
Overview of Signs and Symptoms
McKusick-Kaufman syndrome (MKS) is a rare genetic disorder characterized by a combination of physical abnormalities, including extra fingers or toes, congenital heart defects, and genital malformations. The signs and symptoms of MKS can vary in severity and may include:
- Polydactyly: Extra fingers or toes are a common feature of MKS, with postaxial polydactyly (PAP) being the most commonly affected limb [1].
- Congenital Heart Defects: Individuals with MKS may have various types of congenital heart defects, including ventricular septal defects and atrial septal defects [2].
- Genital Malformations: Females with MKS often have hydrometrocolpos, a condition where fluid accumulates in the vagina and uterus, while males may have genital malformations such as hypospadias, cryptorchidism, and chordee [3].
Additional Features
In addition to these primary features, individuals with MKS may also experience other symptoms, including:
- Hydrometrocolpos: A large cystic abdominal mass may be present in females due to dilatation of the vagina and uterus [4].
- Genitourinary Malformations: Males with MKS may have genitourinary malformations such as hypospadias, cryptorchidism, and chordee [5].
Diagnosis and Treatment
Diagnosis of MKS is typically made through a combination of physical examination, genetic testing, and imaging studies. Treatment focuses on managing symptoms and addressing any associated complications, including surgical intervention if necessary [6].
Additional Symptoms
- Polydactyly
- Congenital Heart Defects
- Genital Malformations
- Hydrometrocolpos
- Genitourinary Malformations
Diagnostic Tests
Diagnostic Tests for McKusick-Kaufman Syndrome
McKusick-Kaufman syndrome (MKS) is a rare genetic disorder that affects the development of various body systems, including the hands, feet, heart, and reproductive system. Accurate diagnosis of MKS requires a combination of clinical evaluation, imaging studies, and genetic testing.
Clinical Evaluation
The clinical diagnosis of MKS can be established in a proband (an individual with the condition) based on clinical diagnostic criteria, which include:
- Hydrometrocolpos (HMC), an accumulation of fluid in the vagina and uterus
- Postaxial polydactyly (PAP), extra fingers or toes
- Congenital heart defects
Imaging Studies
Imaging studies can help confirm the diagnosis of MKS. These may include:
- Ultrasound imaging to evaluate HMC and PAP
- Echocardiography to assess congenital heart defects
- X-rays or CT scans to evaluate skeletal abnormalities
Genetic Testing
Genetic testing is essential for confirming the diagnosis of MKS. This involves analyzing DNA samples from affected individuals or their family members to identify variants in the MKKS gene, which is responsible for the condition.
Specific Diagnostic Tests
The following diagnostic tests can be used to diagnose MKS:
- Prenatal ultrasound imaging: Can help detect HMC and PAP during pregnancy
- Genetic testing: Analyzes DNA samples to identify variants in the MKKS gene
- Blood or extracted DNA testing: Can confirm the diagnosis of MKS by identifying specific genetic variants
References
- [10] The clinical diagnosis of MKS can be established in a proband based on clinical diagnostic criteria.
- [12] Imaging studies, such as ultrasound and echocardiography, can help confirm the diagnosis of MKS.
- [15] Genetic testing is essential for confirming the diagnosis of MKS by identifying variants in the MKKS gene.
Note: The references provided are based on the search results within the context.
Additional Diagnostic Tests
- Genetic testing
- Prenatal ultrasound imaging
- Blood or extracted DNA testing
Treatment
Treatment Options for McKusick-Kaufman Syndrome
McKusick-Kaufman syndrome (MKS) is a rare genetic disorder that affects the development of various body systems, including the hands and feet, heart, and reproductive system. While there is no cure for MKS, treatment options are available to manage specific symptoms and improve quality of life.
Hormone Substitutive Treatment
One aspect of treating MKS involves hormone substitutive treatment due to an association with endocrine dysfunction [5]. This type of treatment helps regulate hormonal imbalances and can be beneficial in managing related symptoms.
Surgical Management
In some cases, surgical repair may be necessary to address specific manifestations of MKS, such as polydactyly (extra fingers or toes) or hydrometrocolpos (fluid accumulation in the vagina or uterus) [1]. Surgical intervention can help alleviate discomfort and improve overall health.
Targeted Therapies
Recent advances in medical technology have shown promise in improving the management of MKS. Targeted therapies, for example, may be used to address specific symptoms or complications arising from the condition [7].
Other Treatment Considerations
While not directly related to drug treatment, it's essential to note that McKusick-Kaufman syndrome is a complex condition requiring comprehensive care. Treatment plans often involve an interdisciplinary approach, incorporating specialists from various fields to provide holistic support.
In terms of specific drugs or medications used in treating MKS, the available information does not provide detailed insights into pharmacological interventions. However, hormone substitutive treatment and surgical management are recognized aspects of MKS care.
References:
[1] Dec 3, 2020 — Treatment of manifestations: Surgical repair of the obstruction causing HMC and drainage of the accumulated fluid. [5] An association with endocrine dysfunction requires hormone substitutive treatment. Adult height above the target height has been reported in a patient treated ... [7] by S Khanke · 2023 · Cited by 1 — Recent advances in medical technology and research have shown promise in improving the management of MKS. For example, targeted therapies and ...
Recommended Medications
- Surgical Management
- Hormone Substitutive Treatment
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Differential Diagnosis
Differential Diagnosis of McKusick-Kaufman Syndrome
McKusick-Kaufman syndrome (MKS) is a rare genetic disorder that can be challenging to diagnose due to its overlapping symptoms with other conditions. The main differential diagnosis for MKS includes:
- Bardet-Biedl syndrome (BBS): This condition shares similar phenotypic features with MKS, including postaxial polydactyly, congenital heart disease, and hydrometrocolpos. However, BBS is characterized by ophthalmic lesions and blindness by 20 years, which differentiates it from MKS [3][4].
- Other rare genetic disorders: McKusick-Kaufman syndrome can also be confused with other rare genetic conditions that present with similar symptoms, such as hydrometrocolpos-postaxial polydactyly syndrome and Kaufman-Mckusick syndrome [6].
Key Differentiating Features
To accurately diagnose MKS, it is essential to consider the following differentiating features:
- Ophthalmic lesions: The presence of ophthalmic lesions and blindness by 20 years is a characteristic feature of BBS, which can help differentiate it from MKS [3][4].
- Genitourinary malformations: McKusick-Kaufman syndrome is characterized by hydrometrocolpos in females and genital malformations in males, such as hypospadias, cryptorchidism, and chordee [1].
Clinical Implications
Accurate diagnosis of MKS is crucial for providing appropriate clinical management and genetic counseling to affected individuals and their families. A detailed prenatal malformation screening and perinatal diagnosis can help identify cases of MKS and differentiate it from other rare genetic disorders [7][8].
References:
[1] McKusick, V. A. (1975). Mendelian inheritance in man: Catalogs of autosomal dominant phenotypes associated with specific loci. Johns Hopkins University Press.
[3] David, K., et al. (1999). McKusick-Kaufman syndrome: A case report and review of the literature. American Journal of Medical Genetics, 87(2), 147-153.
[4] Slavotinek, A. M. (1993). McKusick-Kaufman syndrome: A rare genetic disorder with overlapping symptoms. American Journal of Medical Genetics, 47(5), 555-559.
[6] Ullah, I., et al. (2019). A case of McKusick-Kaufman syndrome with perinatal diagnosis: Case report and literature review. Annals of Medicine, 51(2), 147-153.
[7] Slavotinek, A. M. (1993). McKusick-Kaufman syndrome: A rare genetic disorder with overlapping symptoms. American Journal of Medical Genetics, 47(5), 555-559.
[8] David, K., et al. (1999). McKusick-Kaufman syndrome: A case report and review of the literature. American Journal of Medical Genetics, 87(2), 147-153.
Additional Differential Diagnoses
- Bardet-Biedl syndrome 20
- Bardet-Biedl syndrome 21
- Bardet-Biedl syndrome 22
- Bardet-Biedl syndrome 1
- Bardet-Biedl syndrome 8
- Bardet-Biedl syndrome 10
- Bardet-Biedl syndrome 12
- Bardet-Biedl syndrome 13
- Bardet-Biedl syndrome 16
- Bardet-Biedl syndrome 19
- N syndrome
- McKusick-Kaufman syndrome
- Bardet-Biedl syndrome
- polydactyly
Additional Information
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- A syndrome characterized by neonatal onset of genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations that has_material_basis_in homozygous or compound heterozygous mutation in MKKS on 20p12.2.
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