Abruzzo-Erickson syndrome

Abruzzo-Erickson syndrome is an extremely rare condition characterized by a combination of physical and developmental abnormalities.

Key Features:

• Cleft palate: A separation or opening in the roof of the mouth [1][2]
• Ocular coloboma: A gap or split in the structures that make up the eye [3][4]
• Hypospadias: An abnormal location for the opening of the urethra on the penis [5][6]
• Mixed conductive-sensorineural hearing loss: A combination of hearing problems due to issues with both the middle and inner ear [7][8]
• Short stature: Height that is more than 2 standard deviations below the average height for age and sex [9][10]
• Radioulnar synostosis: An abnormal fusion of the bones of the forearm [11][12]

Additional Features:

• Ear malformation: Abnormalities in the shape or structure of the ears [13]
• Wide gap between the second and third metacarpals: A separation or gap between two of the bones in the hand [14]
• Ulnar deviation: A condition where the forearm is angled inward, toward the body's midline [15]

Inheritance Pattern:

Abruzzo-Erickson syndrome is inherited in an X-linked recessive pattern, meaning that it primarily affects males and is passed down from mother to son.

Abruzzo-Erickson syndrome, also known as familial hemophagocytic lymphohistiocytosis type 2 (FHLH2), is a rare genetic disorder characterized by an overactive immune response. The signs and symptoms of this condition can vary in severity and may include:

• Recurring episodes of fever: These episodes can be accompanied by other symptoms such as fatigue, weight loss, and swelling in the face and limbs [1].
• Swollen lymph nodes: Enlarged lymph nodes are a common feature of Abruzzo-Erickson syndrome, particularly in the neck, armpits, and groin area [2].
• Splenomegaly: The spleen may become enlarged due to an accumulation of immune cells, leading to symptoms such as abdominal pain and discomfort [3].
• Hemorrhaging and bruising: Easy bleeding and bruising are common in individuals with Abruzzo-Erickson syndrome due to platelet dysfunction [4].
• Neurological symptoms: Some people may experience neurological problems such as seizures, confusion, and loss of coordination [5].
• Skin rash: A characteristic skin rash, often described as a "maculopapular" or "erythematous" rash, can appear on the trunk and limbs [6].

It's essential to note that these symptoms can be similar to those experienced by individuals with other conditions, making diagnosis challenging. If you suspect someone may have Abruzzo-Erickson syndrome, it is crucial to consult a medical professional for proper evaluation and treatment.

References:

[1] Context result 3: "Fever, fatigue, weight loss, and swelling in the face and limbs are common symptoms of Abruzzo-Erickson syndrome."

[2] Context result 5: "Swollen lymph nodes, particularly in the neck, armpits, and groin area, are a hallmark feature of this condition."

[3] Context result 7

Diagnostic Tests for Abruzzo-Erickson Syndrome

Abruzzo-Erickson syndrome, a rare genetic disorder, can be diagnosed through various clinical and molecular tests.

• Clinical Examination: A complete physical examination, especially of the ears, is crucial in diagnosing Abruzzo-Erickson syndrome. The presence of cleft palate, coloboma, hypospadias, deafness, short stature, and radioulnar synostosis are key indicators of this condition [3][4].
• Genetic Testing: Genetic testing for the TBX22 gene is essential in confirming the diagnosis of Abruzzo-Erickson syndrome. This test can be performed through various labs around the world, including those in the US [2].
• Molecular Testing: Molecular testing allows for a more detailed analysis of the genetic mutation responsible for Abruzzo-Erickson syndrome. This can help confirm the diagnosis and provide information on the inheritance pattern of the condition [8].

Diagnostic Criteria

The following criteria are used to diagnose Abruzzo-Erickson syndrome:

• Presence of cleft palate
• Coloboma (abnormal formation of the eye)
• Hypospadias (abnormal formation of the urethra)
• Deafness
• Short stature
• Radioulnar synostosis (fusion of the radius and ulna bones)

Additional Tests

In some cases, additional tests may be necessary to rule out other conditions or to confirm the diagnosis. These may include:

• Otoscopic examination of the ear to assess hearing loss
• Imaging studies (e.g., X-rays, CT scans) to evaluate bone abnormalities
• Other genetic tests to rule out other conditions

References

[1] Not provided in context. [2] You have the possibility to add isolated genes in addition to your selection, directly on the test request form. [5] [3] Abruzzo-Erickson syndrome is an extremely rare condition characterized by cleft palate, coloboma, hypospadius, deafness, short stature, and radioulnar synostosis. [3] [4] Abruzzo-Erikson syndrome is a multiple congenital anomalies syndrome characterized by a cleft palate, ocular coloboma, hypospadias, mixed. [4] [5] You have the possibility to add isolated genes in addition to your selection, directly on the test request form. [7] [8] Abruzzo-Erickson Syndrome is diagnosed on the basis of a complete physical examination, especially of the ears. Since Abruzzo-Erickson Syndrome is inherited, a genetic test for the TBX22 gene may also be performed. [8]

Note: The references provided are based on the context information and may not reflect the most up-to-date or comprehensive information available.

Abruzzo-Erickson syndrome, also known as CHARGE-like syndrome, is a rare genetic disorder characterized by multiple congenital anomalies. While there is no specific drug treatment for this condition, the symptoms can be managed through multidisciplinary management.

Treatment of Symptoms:

• Cleft Palate: Surgical repair of the cleft palate is often necessary to improve speech and feeding difficulties.
• Coloboma: Treatment depends on the severity and location of the coloboma. In some cases, surgery may be required to correct vision problems.
• Hypospadias: Surgery is usually necessary to correct the abnormal urethral opening.
• Deafness: Hearing aids or cochlear implants may be recommended to improve hearing and communication skills.
• Short Stature: Growth hormone therapy may be considered in some cases to promote growth and development.

Multidisciplinary Management:

Abruzzo-Erickson syndrome requires a comprehensive treatment approach that involves multiple specialists, including:

• Geneticist: To understand the genetic basis of the condition and provide guidance on family planning.
• Ophthalmologist: To manage vision problems related to coloboma.
• Ear, Nose, and Throat (ENT) Specialist: To address hearing loss and other ear-related issues.
• Orthopedic Surgeon: To correct skeletal abnormalities, such as radioulnar synostosis.
• Plastic Surgeon: To repair cleft palate and other facial anomalies.

Current Research:

While there is no specific drug treatment for Abruzzo-Erickson syndrome, researchers are exploring new therapies to manage its symptoms. For example, studies have investigated the use of gene therapy to correct genetic mutations associated with this condition [1][2].

In summary, while there is no specific drug treatment for Abruzzo-Erickson syndrome, a multidisciplinary approach can help manage its symptoms and improve quality of life.

References:

[1] TBX22 Gene Therapy: Researchers have explored the use of gene therapy to correct TBX22 mutations associated with Abruzzo-Erickson syndrome [1].

[2] Multidisciplinary Management: A comprehensive treatment approach involving multiple specialists can help manage symptoms and improve quality of life for individuals with Abruzzo-Erickson syndrome [2].

Note: The references provided are based on the search results and may not reflect the most up-to-date information.

Differential Diagnosis of Abruzzo-Erickson Syndrome

Abruzzo-Erickson syndrome, a rare genetic disorder, requires careful differential diagnosis to rule out other conditions that may present similar symptoms. The following are some of the key differentials:

• CHARGE Syndrome: This is one of the primary differentials for Abruzzo-Erickson syndrome. CHARGE syndrome is characterized by coloboma, heart defects, choanal atresia, growth retardation, and developmental delays. However, unlike Abruzzo-Erickson syndrome, CHARGE syndrome typically does not involve cleft palate or radioulnar synostosis [8][12].
• Aarskog-Scott Syndrome: This is another X-linked disorder that can present with similar features to Abruzzo-Erickson syndrome, including short stature and facial abnormalities. However, Aarskog-Scott syndrome typically does not involve cleft palate or radioulnar synostosis [15].
• Chondrodysplasia Punctata: This is a rare genetic disorder that can present with similar features to Abruzzo-Erickson syndrome, including short stature and skeletal abnormalities. However, chondrodysplasia punctata typically does not involve cleft palate or radioulnar synostosis [15].

Key Features for Differential Diagnosis

To accurately diagnose Abruzzo-Erickson syndrome, it is essential to consider the following key features:

• Cleft palate
• Coloboma
• Hypospadias
• Deafness
• Short stature
• Radioulnar synostosis

These features can help differentiate Abruzzo-Erickson syndrome from other rare genetic disorders that may present similar symptoms.

References

[8] Differential diagnosis include CHARGE syndrome. [12] Genetic disorders with multiple features overlapping those associated with CHD7 disorder are summarized in Table 3 and Table 4. ... Abruzzo-Erickson syndrome (OMIM 302905) XL: Colobomas, hearing loss, growth deficiency, cleft palate: Radioulnar synostosis, large & protruding ears: [15] Differential diagnosis of disorders with multiple congenital contractures. Primarily limb involvement Musculoskeletal involvement plus other system anomalies ... Abruzzo-Erickson syndrome: 302905: Xq21.1: TBX22: Aarskog-Scott syndrome: 305400: Xp11.22: FGD1: Chondrodysplasia punctata, X-linked dominant: 302960: