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Ohdo syndrome
ICD-10 Codes
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Description
Ohdo syndrome, also known as Ohdo blepharophimosis syndrome (OBS), is a rare multiple congenital malformation syndrome characterized by several distinct physical and developmental features.
Physical Characteristics:
- Blepharophimosis: The eyelids are abnormally small or closed.
- Ptosis: The eyelids droop or fall, often covering the pupil.
- Dental hypoplasia: Teeth are underdeveloped or missing.
- Hearing impairment: Some individuals may experience hearing loss or difficulties.
- Intellectual disability: Affected children may have delayed development and intellectual disabilities.
Developmental Features:
- Severe hypotonia (low muscle tone) at birth, leading to feeding problems and a generally floppy appearance.
- Joint laxity (loose joints) and abnormally long thumbs are common skeletal issues.
- Microcephaly (small head size) is also associated with Ohdo syndrome.
Variants:
There are different variants of Ohdo syndrome, including the Say-Barber-Biesecker-Young-Simpson (SBBYS) variant, which primarily affects males and presents with genital abnormalities. Another variant, the Maat-Kievit-Brunner type, is characterized by intellectual disability and distinctive facial features.
References:
- [5] Ohdo blepharophimosis syndrome (OBS) is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment.
- [7] A multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
- [8] A rare multiple congenital malformation syndrome with characteristics of blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.
Additional Characteristics
- Blepharophimosis: The eyelids are abnormally small or closed.
- Ptosis: The eyelids droop or fall, often covering the pupil.
- Dental hypoplasia: Teeth are underdeveloped or missing.
- Hearing impairment: Some individuals may experience hearing loss or difficulties.
- Intellectual disability: Affected children may have delayed development and intellectual disabilities.
- Severe hypotonia (low muscle tone) at birth, leading to feeding problems and a generally floppy appearance.
- Joint laxity (loose joints) and abnormally long thumbs are common skeletal issues.
- Microcephaly (small head size) is also associated with Ohdo syndrome.
Signs and Symptoms
Ohdo syndrome, also known as Ohdo blepharophimosis syndrome (OBS), is a rare genetic disorder characterized by multiple congenital malformations. The signs and symptoms of Ohdo syndrome can vary in severity and may include:
- Blepharophimosis: A condition where the eyelids are abnormally small or webbed, leading to ptosis (drooping eyelid) [4].
- Dental problems: Affected individuals may experience dental hypoplasia, which is a condition where the teeth do not develop properly [1][5].
- Hearing loss: Ohdo syndrome can be associated with hearing impairment or deafness [1][5].
- Weak muscle tone (hypotonia): Individuals with Ohdo syndrome may have decreased muscle tone, making it difficult to move their limbs or maintain posture [1][5].
- Long thumbs and first toes: Many people with this condition have long thumbs and first (big) toes [2].
- Delayed development: Affected children often experience delayed developmental milestones, including speech and motor skills [8][9].
- Severe mental retardation: In some cases, Ohdo syndrome is associated with severe intellectual disability [9].
- Facial features: Individuals with Ohdo syndrome may have an immobile mask-like face, severe blepharophimosis, ptosis, tear duct abnormalities, a broad nasal bridge, bulbous nasal tip, and small mouth [6][7].
It's essential to note that the severity of these symptoms can vary greatly among individuals with Ohdo syndrome.
Additional Symptoms
- Blepharophimosis
- Hearing loss
- Weak muscle tone (hypotonia)
- Facial features
- Delayed development
- Dental problems (dental hypoplasia)
- Long thumbs and first toes
- Severe mental retardation
Diagnostic Tests
Ohdo syndrome, also known as Ohdo blepharophimosis syndrome (OBS), is a rare genetic disorder that affects multiple systems in the body. Diagnostic tests for Ohdo syndrome are crucial for accurate diagnosis and management of the condition.
Blood or DNA Testing
According to search result [2], blood or extracted DNA testing can be used to diagnose Ohdo syndrome. This involves collecting a sample of blood or DNA from the individual, which is then analyzed for genetic mutations associated with the condition.
Specific Gene Testing
Search result [5] states that diagnosis of Ohdo syndrome is established by identifying a heterozygous pathogenic variant in the KAT6B gene on molecular genetic testing. This specific gene testing can be performed if there is a clinical suspicion of the condition.
Clinical Examination and Imaging Studies
In addition to genetic testing, search result [6] mentions that diagnosis of Ohdo syndrome also involves clinical examination, brain imaging, and molecular studies. A thorough physical examination and medical history are essential for identifying the characteristic features of the condition.
Other Diagnostic Tests
Search results [3] and [8] mention other possible diagnostic tests that may be used to identify Ohdo syndrome, including:
- Dental X-rays to assess dental hypoplasia
- Audiological evaluation to assess hearing impairment
- Thyroid function tests to rule out hypothyroidism
Genetic Tests
Search result [9] lists genetic tests related to Ohdo Syndrome, including the KAT6B gene and other genes associated with similar conditions.
In summary, diagnostic tests for Ohdo syndrome include blood or DNA testing, specific gene testing (KAT6B), clinical examination, brain imaging, molecular studies, dental X-rays, audiological evaluation, thyroid function tests, and genetic tests related to Ohdo Syndrome.
Additional Diagnostic Tests
- Genetic Tests
- Brain Imaging
- Clinical Examination
- Thyroid Function Tests
- Blood or DNA Testing
- Specific Gene Testing (KAT6B)
- Molecular Studies
- Dental X-rays
- Audiological Evaluation
Treatment
Treatment Options for Ohdo Syndrome
Ohdo syndrome, also known as Say-Barber-Biesecker-Young-Simpson (SBBYS) variant, is a rare genetic disorder that affects various parts of the body. While there is no specific cure for this condition, various treatment options are available to manage its symptoms and improve quality of life.
Medications
According to recent studies [8], valproic acid (VPA), a broad-spectrum histone deacetylase inhibitor, has been explored as a potential therapeutic agent for Ohdo syndrome. VPA has shown promise in treating various conditions, including epilepsy, bipolar disorder, and depression [8]. However, more research is needed to confirm its efficacy in managing Ohdo syndrome.
Surgical Interventions
In some cases, surgical interventions may be necessary to correct physical abnormalities associated with Ohdo syndrome. For instance, cryptorchidism (undescended testes) and scrotal hypoplasia (underdeveloped scrotum) are common features in male patients [5]. Surgery can help alleviate these symptoms and improve overall health.
Rehabilitation Therapies
In addition to medical treatments, rehabilitation therapies may be instituted to address the physical and cognitive impairments associated with Ohdo syndrome. These therapies can include physical therapy, occupational therapy, and speech therapy, among others [4].
Genetic Counseling
Given the genetic nature of Ohdo syndrome, genetic counseling is essential for families affected by this condition. This type of counseling helps individuals understand their risk of passing on the disorder to future generations.
While these treatment options are available, it's essential to note that each individual with Ohdo syndrome may require a unique approach tailored to their specific needs and circumstances.
References:
[5] - Male patients may show cryptorchidism and scrotal hypoplasia. Genetic counseling. Most reported cases are sporadic, except the original cases of Ohdo who ...
[4] - Mar 13, 2023 — NORD rare disease drug development ad. NORD ... Ohdo syndrome called Say ... medicine and rehabilitation therapies may be instituted.
[8] - by MI Bergamasco · 2024 · Cited by 5 — Valproic acid (VPA) is a broad-spectrum HDAC inhibitor, currently in clinical use for the treatment of epilepsy, bipolar disorder, depression, ...
[9] - by H Ura · 2024 · Cited by 2 — The KMUGMCi010-A hiPSC can be used as proper in vitro disease modelling of X-linked Ohdo syndrome and also valuable tools to screen for drugs that might provide ...
Recommended Medications
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Differential Diagnosis
Differential Diagnosis of Ohdo Syndrome
Ohdo syndrome, also known as Say-Barber-Biesecker-Young-Simpson (SBBYS) variant, is a rare genetic disorder characterized by multiple congenital malformations. The differential diagnosis of Ohdo syndrome involves considering other genetic syndromes that may present with similar features.
Key Features to Consider
- Genitopatellar syndrome: This syndrome shares overlapping signs and symptoms with Ohdo syndrome, making it a key consideration in the differential diagnosis.
- Intellectual disability: Many individuals with Ohdo syndrome exhibit intellectual disability, which should be considered when evaluating patients for this condition.
- Congenital malformations: The presence of congenital malformations such as blepharophimosis, ptosis, dental hypoplasia, and hearing impairment are characteristic features of Ohdo syndrome.
Other Conditions to Consider
- KAT6B-related disorders: These rare genetic neurodevelopmental disorders may present with similar features to Ohdo syndrome.
- Structural cardiac defects: The presence of structural cardiac defects in around 50% of cases should be considered when evaluating patients for Ohdo syndrome.
- Dental anomalies: Small and pointed teeth are common dental anomalies associated with Ohdo syndrome.
Differential Diagnosis Considerations
When considering the differential diagnosis of Ohdo syndrome, it is essential to evaluate the patient's overall clinical presentation, including their medical history, physical examination findings, and laboratory results. A thorough evaluation by a multidisciplinary team of healthcare professionals, including geneticists, pediatricians, and other specialists, may be necessary to accurately diagnose this condition.
References
- [1] Ohdo syndrome is a multiple congenital malformation syndrome characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment, and intellectual disability. (Source: Search result 5)
- [2] The differential diagnosis of Ohdo syndrome includes other genetic syndromes that may present with similar features. (Source: Search result 8)
- [3] Genitopatellar syndrome is a key consideration in the differential diagnosis of Ohdo syndrome due to overlapping signs and symptoms. (Source: Search result 8)
Additional Differential Diagnoses
- Dental anomalies
- KAT6B-related disorders
- Congenital malformations
- Structural cardiac defects
- N syndrome
- intellectual disability
Additional Information
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