Abidi Syndrome - Causes, Symptoms, Diagnosis, and Treatment

Creator: Dr. Devanga Manjushree Selvaraj
Published: 2023-01-19T16:01:18

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Abidi syndrome is a rare genetic disorder. Read the article below to know more about it.

Written by

Dr. Devanga Manjushree Selvaraj

Medically reviewed by

Dr. Kaushal Bhavsar

January 19, 2023

April 9, 2024

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Contents

What Is Abidi Syndrome?
What Causes Abidi Syndrome?
What Are the Clinical Features of the Abidi Syndrome?
How Does Abidi Syndrome Affect Gastrointestinal Tract?
What Is the Recurrence Risk of Abidi Syndrome?
How Is the Diagnosis Made for Abidi Syndrome?
What Is the Treatment for Abidi X-Linked Mental Retardation Syndrome?

Introduction:

Genetic disorders occur when mutations affect the genes or when there is a wrong amount of genetic material. Genes are made of deoxyribonucleic acid (DNA), which contains directions for cell functioning and the characteristics that make the individual unique.

Individuals receive half of the genes from each biological parent and may inherit a gene from one mutated parent or both parents. Sometimes these changes do occur due to DNA mutations. Some genetic mutations occur at birth, while some develop over time.

Mutations can be of three types:

Chromosomal: This mutation occurs on the structures holding the DNA. The individuals with these conditions have missing or duplicated chromosomal material.
Complex (Multifactorial): These disorders occur due to a combination of gene mutations and other factors, which includes diet, certain medications, tobacco, chemical exposure, or alcohol use.
Single-gene (Monogenic): Group of conditions that occur from a single gene mutation.

What Is Abidi Syndrome?

Abidi syndrome is a rare genetic disorder characterized by observable physical abnormalities, including short stature, sloping forehead, small head circumference, and underdevelopment of the testes. This syndrome could be inherited through generations. The condition is more common in males than females. It affects males between 16 to 50 years of age. A particular presentation of genetic abnormality is X-linked mental retardation which is five to ten percent of all cases of intellectual disability.

What Causes Abidi Syndrome?

Abidi syndrome is X-linked mental retardation caused by primary mutations in the Xq24-q25 genetic region; the exact cause of these genetic mutations and abnormality is unknown. Other possible causes are linked to the progression and development of Abidi X-linked mental retardation. Other possible causes related to the condition are conductive hearing loss, disorders in the external auditory canal, otitis externa (inflammation of the external ear), atresia of the external auditory canal (congenital malformation of the external auditory canal), hemotympanum (blood in middle ear cavity), middle ear disorders, and perilymph fistula (abnormal communication due to leak in perilymph fluid), hypoxic-ischemic encephalopathy (hypoxia-related brain damage), cochlear malformations (congenital anomalies of the ear).

What Are the Clinical Features of the Abidi Syndrome?

The physical features associated with Abidi syndrome X-linked mental retardation do not appear at birth. They progress during the prepubertal period. During this time, it is evidently noticed that the stature, head circumference, and forehead cease to develop also with testicular developments. Prior to the features of Abidi syndrome, other cognitive features appear with memory, problem-solving, comprehension, and attention.

The other primary clinical features associated with Abidi X- linked mental retardation:

Short stature.
Sloping head circumference.
Sloping forehead.
Testicular abnormalities.
Cupped ears (deformity where the top rim of the ear is either folded over tight or wrinkled).
Hearing loss.
Muscle wasting of the lower legs.
Kyphosis (increased back and front curve of the spine is kyphosis)
Joint hyperextensibility (a condition in which individuals joint have an extremely large unusual range of movement).
Decreased attention span.
Cognitive impairment, along with IQ falling between 12 to 62.
Growth and development factors generally collaborated with Abidi X-linked mental retardation.

How Does Abidi Syndrome Affect Gastrointestinal Tract?

In all the cohorts of patients with X-Linked disorder, it has been recorded that up to 35 percent had concurrent gastrointestinal manifestations, and around ten percent had a diagnosis of irritable bowel disease or enteritis. Most commonly, the mutations were missense, associated with a less severe XLA phenotype. The severity of the symptoms was wide-ranging, and management strategies were diverse and experimental.

What Is the Recurrence Risk of Abidi Syndrome?

Molecular genetic diagnosis and accurate genetic advice have to be provided to the individual, but still, rarely the cases arise when the family presents in a clinic and recurrences risk. Recurrence risks for isolated mental retardation were 8.4 percent if the firstborn child is isolated mental retardation as compared with hearing loss of 4.7 to 5.7 percent. Vision impairment of 5.3 to 6.9 percent, cerebral palsy of 2.9 to 3.6 percent. If the firstborn child has mental retardation, the recurrence risk for mild and severe mental retardation can range from 7.1 percent and 4.7 percent, respectively.

How Is the Diagnosis Made for Abidi Syndrome?

Clinical features themselves reveal the unique characteristics of the syndrome along with the visual clinical features. Some tests are done to confirm the diagnosis:

Overall Mental Health: Overall mental health tests include analysis of physiological, emotional, and social well-being. Depends on the choices, how one feels and how one handles stress.
Home Testing: Also known as direct- to consumer genetic testing. Customers directly send DNA samples directly to the company and often receive results online.
Home Emotional Stress Tests: It is a psychological test.
Routine Blood Test: A routine blood test is done for analysis of abnormal values.
Gene Mapping: Process of determining the location of genes on chromosomes. Sequencing a genome and using a computer program to analyze the sequence to identify the location of genes.
CT-Scan (Computed Tomography): A combination of X-rays and computer technology is used in this diagnostic procedure to produce images of the body tissues.
MRI (Magnetic Resonance Imaging): Highly detailed images are produced using a strong magnetic field and high-frequency radio waves. Magnetic resonance imaging is usually very safe as X-rays are not used.
Radiographic X-ray: Quick, painless procedure that produces images of the structures of the body- especially bones.

What Is the Treatment for Abidi X-Linked Mental Retardation Syndrome?

Abidi X-linked mental retardation has no direct treatment. With advanced modern medical technologies, the prevention of the disorder is possible. Efforts for alleviating X-linked diseases have been found. A possible method for prevention is gamete donation, and this would retard the progression of the disorder. Along with it, enough parenteral diagnosis and genetic counseling should be made.

Conclusion:

Abidi syndrome is a rare genetic disorder that is characterized by numerous physical abnormalities. Patients with X-linked disease may require very close monitoring with particular attention to gastrointestinal manifestations, including irritable bowel disease and infectious enteritis. More studies and research is required to improve the diagnosis and management of gastrointestinal conditions in XLA patients.

Frequently Asked Questions

1. How Is Cystic Fibrosis Inherited?

It is a type of genetic disorder that causes the formation of sticky mucus and damages the respiratory and digestive systems. It occurs due to an alteration in the CFTR (CF transmembrane conductance regulator) gene on chromosome 7. It is passed down in a pattern, where two copies of mutated genes should be present in each parent to pass down the disorder called an autosomal recessive pattern.

2. Which Psychological Disorder Is Strongly Inherited?

A highly inherited psychological disorder is a bipolar disorder that can affect about one to four percent of the population. Bipolar disorder causes extreme emotions such as going into depression or mania (high energy levels). The cause of bipolar disorder (a mental health condition) is not yet identified, but factors like brain function, structure, and environment play an important role.

3. How Much Is the Risk of Becoming a Carrier of a Genetic Disorder?

In females who carry two X chromosomes, if the mutation is present in one chromosome, she is referred to as a carrier and does not present any symptoms. There is a 50 percent risk of being carriers by their children in case of autosomal dominant and autosomal recessive disorders. There is a 25 percent risk of being carriers by their children in case of X-linked recessive disorder.

4. What Is Huntington’s Disease?

It is a neurodegenerative inherited disorder where the nerve cells present in the brain slowly break down. This is due to an alteration in the gene called huntingtin. This mutation can cause CAG (nucleotide bases in DNA) to repeat, and more than 36 CAG repeats can develop this disease. This gene is passed down in a pattern where one copy of the mutated gene is enough to cause the disorder. People have a 50 percent chance of passing down the condition to their offspring, called the autosomal dominant pattern.

5. Which Genetic Disorder Causes Abnormal Red Blood Cells?

Sickle cell disorder is a genetic disorder that distorts the red blood cells in a crescent or sickle shape. It causes anemia, recurrent infections, and episodes of pain. It is handed down in a pattern, where the genetic alterations that cause the disorder should be present in both parents, called the autosomal recessive pattern.

6. What Is a Karyotype Image, and What Conditions Can Be Diagnosed?

Karyotype imaging is a genetic test that helps study the size, shape, and total number of chromosomes in the body. It can be used to detect genetic abnormalities in the fetus. It can detect conditions such as Down’s syndrome, Klinefelter syndrome, Turner syndrome, multiple myeloma, anemia, and leukemia.

7. What Is Alzheimer’s Disease?

Alzheimer’s disease causes memory loss and destroys thinking skills, including simple tasks. The gene associated with this is the apolipoprotein E (APOE) gene, also a risk factor. In contrast, in autosomal dominant Alzheimer’s disease, the responsible genes are APP (Amyloid protein precursor), PSEN1 (presenilin-1), and PSEN2(presenilin-2).

8. What Is Autism?

It is a neurodevelopmental genetic disorder. This disease is associated with many genes, and a single one is not responsible. The concordance rate between identical twins is high. This requires early diagnosis, which can be difficult due to delays in verbal IQ (intelligence quotient) and language. There are several forms of autism; the classical form includes deficits in language development, social cognition, and repetitive, restrictive movements.

9. How Is a Recessive Genetic Disorder Inherited?

A recessive genetic disorder means two copies of mutations are required to cause the disorder. It can be an autosomal recessive or X-linked recessive disorder. An autosomal recessive pattern is when the mutated gene is present in both parents and is passed down to the child with two copies of the mutated gene. The X-linked recessive disorder occurs when the mutations are present on the X chromosome.

10. Why Can Genetic Disorders Cannot Be Treated?

There is no cure for genetic disorders since the mutated gene is present in every body cell. Most genetic disorders involve the management of pain and discomfort. Specific genetic therapies, such as gene addition, in which a new gene replaces a missing gene, are also used.

11. How to Diagnose Genetic Disorders in a Fetus?

Prenatal diagnostic tests can be done with the samples such as placenta or amniotic fluid. Amniocentesis involves the testing of amniotic fluid for genetic disorders such as Edward’s or Down syndrome. Chorionic villus sampling involves the placental biopsy for genetic testing.

12. Which Blood Clotting Disorder Is Genetically Inherited?

Factor V Leiden thrombophilia is a type of genetic disorder that causes blood clotting. This occurs due to a mutation in the F5 (coagulation factor V) gene located on chromosome 1. This gene is passed down in a pattern, where one copy of the mutated gene is enough to cause the autosomal dominant pattern disorder.

13. How are Genetic Disorders Passed Down?

There are four types:

- Autosomal Recessive: Each parent should have two copies of mutated genes to pass down the disorder.

- Autosomal Dominant: The presence of one single gene from one parent is enough to cause this disorder.

- X- X-linked Pattern: Genetic disorders occur when mutations occur in the X chromosome. It can be recessive or dominant.

- Mitochondrial: A type of genetic disorder that occurs due to mutation in the DNA of mitochondria, which can be passed down from mothers.

14. What Is Emphysema?

Emphysema is a genetic disorder that affects the lungs and causes difficulty in breathing. It affects the lung’s air sac. The genetic condition of this disorder is related to alpha-1 antitrypsin deficiency. It is also due to exposure to irritants such as fumes, exhaust, vapor, and air pollution.

Sources

Dr. Kaushal Bhavsar

Pulmonology (Asthma Doctors)

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