Guttmacher syndrome

Guttmacher syndrome is an extremely rare genetic disorder characterized by a combination of abnormalities in the distal limbs and genital tract.

Key Features:

• Hypoplastic thumbs and halluces (underdeveloped or small thumbs and big toes)
• 5th finger clinobrachydactyly (shortened fingers, specifically the little finger)
• Postaxial polydactyly of the hands (extra finger on the outer side of the hand)
• Short or uniphalangeal 2nd toes with absent nails
• Hypospadias (a condition where the urethra opens on the underside of the penis instead of at the tip)

Inheritance: Guttmacher syndrome is inherited in an autosomal dominant pattern, meaning that a single copy of the mutated gene is enough to cause the condition. This means that if one parent has the condition, each child has a 50% chance of inheriting it.

Other Information:

• Guttmacher syndrome has been described in a few families, including a father and his son and daughter.
• The affected individuals have normal mental development, but may experience other health issues related to their physical abnormalities.

References:

[1] - [12]

Guttmacher syndrome is an extremely rare genetic disorder characterized by several distinct physical features. Some of the common signs and symptoms associated with this condition include:

• Hypoplastic thumbs and halluces: This means that the thumbs and big toes are underdeveloped or missing.
• 5th finger clinobrachydactyly: The little fingers may be short and club-shaped, with possible fusion of the extra digit (pollex).
• Enlarged kidneys with numerous fluid-filled cysts: People with Guttmacher syndrome may have kidney abnormalities, which can lead to various complications.
• Occipital encephalocele: This is a rare condition where a sac-like protrusion of the brain occurs through an opening in the skull.

Additionally, individuals with Guttmacher syndrome may experience other physical malformations, such as:

• Malformations of the fingers and toes: Missing or fused digits are common.
• Abnormalities in the urogenital system: This can include issues with the kidneys, bladder, or reproductive organs.

It's essential to note that Guttmacher syndrome is a rare condition, and not all individuals will exhibit these symptoms. A proper diagnosis by a medical professional is necessary for an accurate assessment of this condition.

References:

• [1] Description of Guttmacher syndrome
• [4] Malformations associated with Guttmacher syndrome
• [5] Unique skeletal defects in Guttmacher syndrome

Guttmacher syndrome can be diagnosed through genetic testing, which involves analyzing the HOXA13 gene.

• Next-generation sequencing (NGS) technology: This cutting-edge test uses NGS to analyze the HOXA13 gene and identify mutations associated with Guttmacher syndrome [5].
• Genetic testing by DNA Labs India: The NGS Genetic Test for Guttmacher Syndrome offered by DNA Labs India is a reliable and accurate diagnostic tool that can confirm the diagnosis of HOXA13 Gene Guttmacher Syndrome [6].
• HOXA13 gene test by DNA Labs UAE: This specialized genetic test is designed to identify mutations in the HOXA13 gene associated with Guttmacher syndrome [9].

Additionally, there are other genetic tests available that may also be relevant for diagnosing Guttmacher syndrome. For example:

• Clinical Genetic Test offered by Intergen: This test is offered for conditions including Guttmacher syndrome and involves analyzing genes such as HOXA13 [3].
• The Invitae Limb and Digital Malformations Panel: This panel analyzes genes associated with conditions affecting the limbs and/or digits, which may include Guttmacher syndrome [10].

It's worth noting that a diagnosis of Guttmacher syndrome can be confirmed through genetic testing, and these tests are designed to identify mutations in the HOXA13 gene.

Treatment Overview

Guttmacher syndrome, an extremely rare genetic disorder, does not have a specific treatment protocol. However, the symptoms and associated conditions can be managed through various medical interventions.

• Recurrent urinary tract infections: Prophylactic antibiotic therapy may improve symptoms in affected individuals [4].
• Pain management: Nonopioid medications are recommended for pain management, while maintaining the minimum OUD treatment dose of methadone or BUP is essential [5].

Opioid Use Disorder (OUD) Treatment

While Guttmacher syndrome itself does not involve opioid use disorder, the context provided suggests that pregnant women with OUD may be treated in a licensed outpatient program. Methadone induction is often initiated in these programs, and some obstetric services also provide opioid treatment [8][10].

Other Considerations

• Molecular diagnosis: Knowledge of the HOXA13 gene mutation associated with Guttmacher syndrome can aid in molecular diagnosis [6].
• Rare diseases and orphan drugs: Research on rare diseases and orphan drugs may provide insights into potential treatments or management strategies for Guttmacher syndrome [7].

Consultation with a Healthcare Professional

It is essential to consult with a healthcare professional for personalized medical advice and treatment. They can assess individual needs and develop a tailored plan to manage symptoms and associated conditions.

References: [4] Context 4 [5] Context 5 [6] Context 6 [7] Context 7 [8] Context 8 [10] Context 10

Guttmacher syndrome, also known as HOXA13-related disorder, is a rare genetic condition characterized by preaxial deficiency, postaxial polydactyly of the hands only, and hypospadias. When considering differential diagnoses for Guttmacher syndrome, several conditions should be taken into account.

• Fanconi anemia syndrome: This condition shares some similarities with Guttmacher syndrome in terms of limb malformations and genitourinary tract abnormalities [5].
• Rothmund Thomson syndrome: Although not directly related to limb or urogenital malformations, this rare genetic disorder can present with similar skeletal defects as seen in Guttmacher syndrome [8].
• Holt-Oram syndrome: This autosomal dominant condition is characterized by upper limb abnormalities and congenital heart disease. It should be considered in the differential diagnosis of Guttmacher syndrome due to overlapping features [6, 3].
• SALL4-related disorders: These genetic conditions can present with similar limb malformations as seen in Guttmacher syndrome, making them a relevant consideration for differential diagnosis [5].

It's essential to note that each of these conditions has distinct characteristics and should be considered on an individual basis. A comprehensive physical examination, including radiographs and imaging studies, is crucial for accurate diagnosis.

References: [3] - by MJ Piazza · 2018 · Cited by 1 [5] - by E Yokoyama · 2017 · Cited by 4 [6] - by MJ Piazza · 2018 · Cited by 1 [8] - by SC Quinonez · 2014 · Cited by 219