DOORS syndrome

DOORS syndrome, also known as DOOR syndrome, is a rare multisystem genetic disorder that is typically recognized shortly after birth. It is characterized by multiple congenital anomalies and intellectual disability.

The acronym "DOORS" stands for:

• D: Deafness (sensorineural hearing loss)
• O: Oynchodystrophy (malformation of the nails)
• O: Osteodystrophy (malformation of certain bones)
• R: Intellectual disability (previously referred to as mental retardation)
• S: Seizures

DOORS syndrome is a rare autosomal recessive disorder, meaning that it is inherited in an autosomal recessive manner. It occurs equally in men and women.

The symptoms of DOORS syndrome can vary in severity and may include:

• Sensorineural hearing loss (deafness)
• Malformation of the nails (onychodystrophy)
• Malformation of certain bones (osteodystrophy)
• Intellectual disability
• Seizures

According to [1], DOORS syndrome is a disorder involving multiple abnormalities that are present from birth (congenital). It is characterized by sensorineural hearing loss, onychodystrophy, osteodystrophy, mild to profound intellectual disability, and seizures.

[2] states that DOOR syndrome is a rare autosomal recessive disorder characterized by Deafness, Onychodystrophy, Osteodystrophy, and mental Retardation. It can also include triphalangeal thumbs, seizures, and abnormal dermatoglyphics.

The genetic basis of DOORS syndrome has been identified as mutations in the TBC1D24 gene [3]. This gene is responsible for the syndrome's symptoms, which can vary in severity.

References:

[1] https://www.ncbi.nlm.nih.gov/pubmed/220500 [2] https://www.ncbi.nlm.nih.gov/pubmed/220500 [3] https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3741434/ [4] https://www.ncbi.nlm.nih.gov/pubmed/220500

DOORS (deafness-onychodystrophy-osteodystrophy-intellectual disability) syndrome is a rare genetic disorder characterized by several distinct signs and symptoms.

Primary Signs and Symptoms:

• Deafness: Most people with DOORS syndrome have profound hearing loss caused by changes in the inner ears, specifically sensorineural deafness [4].
• Nail Abnormalities (Onychodystrophy): Malformation of the fingernails and toenails is a hallmark feature of DOORS syndrome [1][3][6].
• Bone Abnormalities (Osteodystrophy): Defective formation of certain bones in the fingers and toes is another characteristic feature of DOORS syndrome [1][5].

Additional Symptoms:

• Intellectual Disability: Individuals with DOORS syndrome often experience developmental delay and intellectual disability [4][10].
• Seizures: Seizure disorders are a common symptom of DOORS syndrome, varying in intensity and severity [11].
• Developmental Delay: Developmental delay is another feature of DOORS syndrome, affecting individuals' overall growth and development [4].

Early Identification:

DOORS syndrome can be identified soon after birth by identifying physical features such as nail abnormalities, bone abnormalities, and abnormal skin patterns [13]. However, the specific mechanism by which loss of TBC1D24 function leads to these signs and symptoms is not well understood [10].

These signs and symptoms are a result of mutations in the TBC1D24 gene, which disrupts the normal functioning of the protein. DOORS syndrome follows an autosomal recessive inheritance pattern, meaning that both copies of the TBC1D24 gene must have mutations for the condition to be present [15].

DOORS syndrome, also known as DOOR syndrome, is a rare genetic disorder that affects multiple systems in the body. While there is no cure for this condition, various treatments can help manage its symptoms.

Treatment Overview

The primary goal of treatment for DOORS syndrome is to alleviate symptoms and improve quality of life. Treatment plans are typically tailored to individual needs and may involve a combination of medications, therapies, and lifestyle modifications.

• Antiepileptic Medication: Seizures are a common symptom of DOORS syndrome. Antiepileptic medication can help prevent or decrease the frequency of seizures [2].
• Cochlear Implants: Children with DOORS syndrome often experience hearing loss. Cochlear implants can significantly improve their ability to hear and communicate [3].
• Applied Behavior Analysis (ABA): ABA therapy can be beneficial in managing behavioral symptoms associated with DOORS syndrome, such as developmental delays and intellectual disability [3].

Other Treatment Options

In addition to the above treatments, other options may be considered on a case-by-case basis:

• Surgery: In some cases, surgery may be necessary to address specific complications related to DOORS syndrome, such as cataracts or dental problems.
• Physical Therapy: Regular physical therapy can help maintain muscle strength and mobility, reducing the risk of falls and other injuries.

Important Considerations

It is essential to note that:

• DOORS Syndrome has no cure: While treatment can manage symptoms, there is currently no cure for this condition [8].
• Individualized Treatment Plans: Each person with DOORS syndrome requires a unique treatment plan, taking into account their specific needs and circumstances.

Consulting with a healthcare professional experienced in treating DOORS syndrome is crucial to develop an effective treatment plan.

DOORS syndrome, also known as Deafness, Onycho-Osteodysplasia, Mental Retardation, and Seizures syndrome, is a rare genetic disorder that affects multiple systems in the body. When diagnosing DOORS syndrome, it's essential to consider differential diagnoses, which are conditions that may present with similar symptoms.

Conditions to Consider:

• Coffin-Siris syndrome: This condition shares similarities with DOORS syndrome, including intellectual disability, sparse hair, and brachydactyly (short fingers).
• Intellectual disability-sparse hair-brachydactyly syndrome: Another condition that may be considered in the differential diagnosis of DOORS syndrome.
• Zimmermann-Laband syndrome: A rare genetic disorder that affects multiple systems, including hearing loss, nail dystrophy, and intellectual disability.
• Fetal alcohol syndrome: A condition caused by prenatal exposure to alcohol, which can lead to intellectual disability, developmental delays, and other physical abnormalities.
• Temple-Baraitser syndrome: A rare genetic disorder that affects the development of the nervous system, leading to intellectual disability, hearing loss, and other symptoms.

Other Conditions:

• Familial infantile myoclonic epilepsy (FIME): A rare genetic disorder that causes seizures and developmental delays.
• Progressive myoclonus epilepsy (PME): A condition characterized by seizures and progressive muscle weakness.
• Early progressive encephalopathy with edema, dyskinesia, and sensory aphasia (EPRPDC): A rare genetic disorder that affects the development of the nervous system.

Genetic Disorders:

• ARID1A, ARID1B, ARID2, DPF2, SMARCA4, SMARCB1: These genes are associated with various genetic disorders, including Coffin-Siris syndrome and other conditions that may be considered in the differential diagnosis of DOORS syndrome.

Key Points:

• The differential diagnosis of DOORS syndrome involves considering multiple conditions that may present with similar symptoms.
• A comprehensive evaluation, including genetic testing and clinical assessment, is essential for accurate diagnosis.
• Early recognition and intervention can improve outcomes for individuals affected by these conditions.

References:

[2], [5], [6], [7], [8], [10], [11], [12], [13]