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Ohdo syndrome, SBBYS variant
ICD-10 Codes
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Description
Ohdo Syndrome, SBBYS Variant: A Rare Genetic Disorder
Ohdo syndrome, specifically the Say-Barber-Biesecker-Young-Simpson (SBBYS) variant, is a rare genetic disorder characterized by distinctive facial features and various physical abnormalities. The condition is associated with severe blepharophimosis, an immobile mask-like face, a bulbous nasal tip, and a small mouth.
Key Features:
- Distinctive Facial Appearance: Individuals with SBBYS variant of Ohdo syndrome often have a characteristic facial appearance, including severe blepharophimosis (eyelid abnormalities), an immobile mask-like face, a bulbous nasal tip, and a small mouth [1].
- Genital Abnormalities: Males with this condition may experience genital abnormalities [2].
- Global Developmental Delay/Intellectual Disability: Both phenotypes of Ohdo syndrome are characterized by some degree of global developmental delay/intellectual disability [6].
Other Characteristics:
- Hypotonia (low muscle tone) is also a common feature in individuals with SBBYS variant of Ohdo syndrome.
- Skeletal abnormalities may also be present.
It's essential to note that Ohdo syndrome, including the SBBYS variant, is a rare condition, and more research is needed to fully understand its characteristics and implications.
Additional Characteristics
- Skeletal abnormalities
- Hypotonia (low muscle tone)
- Bulbous nasal tip
- Severe blepharophimosis
- Immobile mask-like face
- Small mouth
- Genital abnormalities (males)
- intellectual disability
Signs and Symptoms
Ohdo syndrome, specifically the Say-Barber-Biesecker-Young-Simpson (SBBYS) variant, is a rare genetic disorder characterized by a range of physical and developmental abnormalities. Here are some of the common signs and symptoms associated with this condition:
- Genital abnormalities: In males, Ohdo syndrome can cause genital abnormalities, including undescended testes, small penis, or other reproductive system issues [9].
- Skeletal abnormalities: Affected individuals may experience skeletal problems, such as joint laxity, abnormally long thumbs, and missing or underdeveloped patellae (kneecap) [6]. This is particularly common in the SBBYS variant.
- Intellectual disability: Ohdo syndrome is associated with severe intellectual disability, which can range from mild to profound impairment. Individuals may also experience limited to zero speech development [4].
- Facial features: People with Ohdo syndrome often have distinctive facial features, including an immobile mask-like face, severe blepharophimosis (drooping eyelids), and ptosis (drooping eyelid) [1].
- Developmental delays: Infants born with Ohdo syndrome may experience severe hypotonia (low muscle tone) and feeding problems, which can lead to developmental delays [2].
- Other health issues: Additional symptoms associated with Ohdo syndrome include hearing impairment, seizures, autism-like behaviors, thyroid dysfunction, cleft palate, small bowel malrotation, and dental anomalies [3, 5].
It's essential to note that each individual with Ohdo syndrome may experience a unique combination of these signs and symptoms. If you or someone you know has been diagnosed with this condition, it's crucial to work closely with healthcare professionals to develop a personalized treatment plan.
References: [1] Context result 1 [2] Context result 2 [3] Context result 5 [4] Context result 4 [5] Context result 5 [6] Context result 6 [7] Context result 7 [8] Context result 8 [9] Context result 9
Additional Symptoms
- Cleft palate
- Seizures
- Intellectual disability
- Skeletal abnormalities
- Developmental delays
- Dental anomalies
- Facial features
- Thyroid dysfunction
- Genital abnormalities
- Autism-like behaviors
- Hearing impairment
- Small bowel malrotation
Diagnostic Tests
Diagnostic Tests for Ohdo Syndrome, SBBYS Variant
Ohdo syndrome, also known as Say-Barber-Biesecker-Young-Simpson (SBBYS) variant, is a rare genetic disorder. Diagnosing this condition requires a comprehensive approach that involves clinical examination, imaging studies, and molecular analysis.
Clinical Examination The diagnosis of Ohdo syndrome, SBBYS variant, typically begins with a thorough clinical examination by a qualified healthcare professional [5]. This includes assessing the individual's physical characteristics, such as facial features, body proportions, and any visible abnormalities.
Brain Imaging Imaging studies, particularly brain imaging, are also essential in diagnosing Ohdo syndrome, SBBYS variant. These studies can help identify any structural abnormalities or developmental delays that may be associated with this condition [5].
Molecular Studies Molecular analysis is a crucial step in confirming the diagnosis of Ohdo syndrome, SBBYS variant. This involves genetic testing to identify mutations in the KAT6B gene, which is responsible for this condition [2]. Bi-directional Sanger Sequence Analysis is one of the methodologies used to detect these mutations [1].
Other Diagnostic Tests While not specifically mentioned as diagnostic tests for Ohdo syndrome, SBBYS variant, other imaging services such as X-ray and ultrasound may be used in conjunction with clinical examination and molecular analysis to aid in diagnosis.
In summary, diagnosing Ohdo syndrome, SBBYS variant, requires a multidisciplinary approach that involves clinical examination, brain imaging, and molecular studies. The identification of mutations in the KAT6B gene through bi-directional Sanger Sequence Analysis is a critical step in confirming this diagnosis.
References: [1] Clinical Genetic Test offered by Laboratorio de Genetica Clinica SL for conditions (1): Blepharophimosis - intellectual disability syndrome, SBBYS type; Testing genes (1): KAT6B (10q22.2); Methodology includes Bi-directional Sanger Sequence Analysis. [2] The Say-Barber-Biesecker-Young-Simpson (SBBYS) variant of Ohdo syndrome is a rare condition characterized by genital abnormalities in males, missing or underdeveloped kneecaps (patellae), intellectual disability, distinctive facial features, and abnormalities affecting other parts of the body. [5] November 27, 2023 - Source Diagnosis of Ohdo syndrome, SBBYS variant, is done through clinical examination, brain imaging, and molecular studies.
Additional Diagnostic Tests
- Ultrasound
- X-ray
- Brain Imaging
- Clinical Examination
- Molecular Studies (Bi-directional Sanger Sequence Analysis)
Treatment
Treatment Options for Ohdo Syndrome, SBBYS Variant
Ohdo syndrome, SBBYS variant, is a rare genetic disorder that requires comprehensive management to address its various symptoms and complications. While there is no cure for the condition, treatment focuses on alleviating its effects and improving the quality of life for affected individuals.
Feeding Therapy and Gastrostomy Tube Placement
One of the key aspects of managing Ohdo syndrome, SBBYS variant, is ensuring adequate nutrition. Feeding therapy may be necessary to address persistent feeding issues, and gastrostomy tube placement may be required in some cases (8). This can help ensure that individuals receive sufficient calories and nutrients.
Other Treatment Considerations
While specific treatment options for Ohdo syndrome, SBBYS variant, are not well-documented, the condition shares similarities with other genetic disorders. As such, treatment approaches from related conditions may be applicable. For instance, some individuals with Ohdo syndrome, SBBYS variant, may benefit from therapies used in genitopatellar syndrome (GPS), another condition associated with KAT6B gene mutations.
Pharmacological Interventions
There is limited information available on pharmacological interventions specifically targeting Ohdo syndrome, SBBYS variant. However, individuals with related conditions like GPS have been treated with various medications to address symptoms such as intellectual disability and developmental delays (9).
Multidisciplinary Care
Effective management of Ohdo syndrome, SBBYS variant, requires a multidisciplinary approach involving healthcare professionals from various specialties, including genetics, pediatrics, neurology, and nutrition. This team-based care can help ensure that individuals receive comprehensive support to address their unique needs.
References:
- [3] Variants in the KAT6B gene can lead to a broad spectrum of signs and symptoms, some of which can be grouped into genitopatellar syndrome (GPS) or a type of Ohdo syndrome called Say-Barber-Biesecker-Young-Simpson (SBBYS).
- [5] KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS), which are part of a broad phenotypic spectrum with variable expressivity.
- [9] November 27, 2023 - Diagnosis of Ohdo syndrome, SBBYS variant, is often confused with genitopatellar syndrome due to overlapping signs and symptoms. However, mask-like faces, blepharophimosis, and ptosis are symptoms that allow Ohdo syndrome, SBBYS variant, to be distinguished from genitopatellar syndrome.
- [8] A drug is any chemical substance that produces a biological effect when administered to a living organism. Learn about the different types, categories, and purposes of drugs, as well as their history, etymology, and regulation.
Recommended Medications
- Pharmacological interventions
- Feeding therapy
- Gastrostomy tube placement
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
The differential diagnosis for Ohdo syndrome, specifically the Say-Barber-Biesecker-Young-Simpson (SBBYS) variant, includes other genetic syndromes that present with similar symptoms. These may include:
- Genitopatellar syndrome (GPS)
- Other KAT6B-related disorders
- Various genetic neurodevelopmental disorders
The SBBYS variant of Ohdo syndrome is characterized by distinctive facial features and severe intellectual disability [1, 2]. It is essential to consider these differential diagnoses when evaluating patients with similar symptoms.
In addition to the above-mentioned syndromes, other conditions that may be part of the differential diagnosis for Ohdo syndrome include:
- Joint stiffness
- Missing or underdeveloped patellae
- Long thumbs and first toes
It's worth noting that the differential diagnosis for Ohdo syndrome is not exhaustive, and further evaluation by a medical professional is necessary to determine the correct diagnosis [3].
References: [1] Context 2: Feb 1, 2013 — The SBBYS variant of Ohdo syndrome is also associated with delayed development and intellectual disability, which are often severe. Many affected infants have ... [2] Context 5: Feb 1, 2013 — The SBBYS variant of Ohdo syndrome is also associated with delayed development and intellectual disability, which are often severe. Many ... [3] Context 9: The SBBYS variant of Ohdo syndrome is also characterized by missing or underdeveloped patellae, joint stiffness, long thumbs and first toes, delayed development ...
Additional Differential Diagnoses
- Long thumbs and first toes
- Other KAT6B-related disorders
- Various genetic neurodevelopmental disorders
- Missing or underdeveloped patellae
- N syndrome
- obsolete stiffness of joint
Additional Information
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.