Clark-Baraitser syndrome

Clark-Baraitser syndrome, also known as CLABARS, is a rare genetic disorder characterized by various physical and developmental abnormalities.

• Intellectual disability: Individuals with Clark-Baraitser syndrome often experience intellectual disabilities or developmental disabilities [4][5].
• Delayed speech development: Speech development is typically delayed in individuals with this condition [4][5].
• Autistic features/behavioral abnormalities: Autistic-like behavior, aggressive tantrums, and other behavioral issues are common in those affected by Clark-Baraitser syndrome [6][7].
• Obesity and macrocephaly: Obesity and macrocephaly (larger-than-average head size) are also characteristic features of this condition [4][5][8].
• Macroorchidism: Large testicular size is another feature associated with Clark-Baraitser syndrome [9].

It's essential to note that each individual may exhibit a unique combination of these characteristics, and the severity of symptoms can vary widely among those affected by this rare genetic disorder.

References: [4] - A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. [5] - Clark-Baraitser syndrome. Suggest an update ... Disease definition. A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities (such as aggressive tantrums and autistic-like behavior), and delayed speech development. [6] - Clark-Baraitser Syndrome (CLABARS) is characterized by intellectual disabilities/developmental disabilities, delayed speech, autistic features/behavioural ... [7] - Clark-Baraitser syndrome is a rare genetic disorder characterized by intellectual disability, delayed speech development, obesity, macrocephaly, behavioral ... [8] - Clark-Baraitser syndrome · Description · Synonyms · Two SOX11 variants cause Coffin-Siris syndrome with a new feature of sensorineural hearing loss. · The ... [9] - Overall large stature, craniofacial manifestations, and macroorchidism define the phenotype. Macrocephaly with square forehead and prominent supraorbital ridges ...

Clark-Baraitser syndrome, also known as KINSSHIP syndrome or severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome, is a rare genetic disorder characterized by several distinct signs and symptoms.

Physical Characteristics:

• Anteverted nares (upturned nostrils) [4]
• Depressed nasal bridge
• Downturned corners of mouth
• Epicanthus (skin fold at the inner corner of the eye)
• Exaggerated cupid bow (upper lip curve)
• High palate
• Long philtrum (upper lip groove)
• Low hanging columella

Developmental and Intellectual Disability:

• Overall large stature [5]
• Macrocephaly (larger-than-normal head size) with square forehead and prominent supraorbital ridges
• Severe intellectual disability, often accompanied by poor language development [3]

Behavioral Abnormalities:

• Aggressive behavior
• Anxiety
• Autistic behavior
• Hyperactivity

Other Features:

• Macroorchidism (enlarged testes)
• Obesity
• Strabismus (crossed eyes)

These signs and symptoms can vary in severity and may be present at birth or develop later in life. Clark-Baraitser syndrome is a rare condition, and its diagnosis is often challenging due to the complexity of its presentation.

References: [1] Orphanet summary [2] [3] 7q11.23 microduplication syndrome [4] [5] Overall large stature, craniofacial manifestations, and macroorchidism define the phenotype [6] [8] Clark-Baraitser syndrome is characterized by intellectual disability with or without autism spectrum disorders, speech delay, motor delay, ...

Clark-Baraitser syndrome can be diagnosed through various diagnostic tests, including:

• Genetic testing: This is the primary method for diagnosing Clark-Baraitser syndrome. Genetic tests can identify mutations in the TRIP12 gene, which causes the condition [6]. Exome sequencing can also be used to detect pathogenic variants in this gene [9].
• Physical examination: Doctors may perform a physical examination to evaluate developmental milestones and assess intellectual functioning.
• Developmental assessments: These evaluations can help determine if an individual has delayed speech development or other behavioral abnormalities associated with Clark-Baraitser syndrome.

It's worth noting that genetic testing is the most accurate method for diagnosing Clark-Baraitser syndrome. According to [11], doctors may also perform physical examinations, evaluate developmental milestones, and assess intellectual functioning to make a diagnosis.

Additionally, prenatal presentation and diagnosis of Clark-Baraitser syndrome using exome sequencing have been reported in medical literature [12].

It's also mentioned that diagnostic aids, such as genetic testing, can be used to diagnose Clark-Baraitser syndrome.

Clark-Baraitser syndrome, also known as Baraitser-Winter syndrome, is a rare genetic disorder characterized by intellectual disability, delayed speech development, obesity, macrocephaly, and behavioral abnormalities.

Treatment Overview

While there is no specific treatment for Clark-Baraitser syndrome, the management of associated symptoms and complications can significantly improve the quality of life for individuals with this condition. The perioperative management of antiepileptic drug therapy is crucial for seizure control in these patients [4].

Medications Used

• Antiepileptic medications: These are used to manage seizures and other related neurological symptoms [4].
• Behavioral interventions: Behavioral therapies, such as applied behavior analysis (ABA), can help manage behavioral abnormalities associated with Clark-Baraitser syndrome.
• Obesity management: A healthy diet and regular exercise can help manage obesity-related complications.

Important Considerations

• Consultation with a healthcare professional is essential for medical advice and treatment [5].
• Early intervention and multidisciplinary care can significantly improve outcomes for individuals with Clark-Baraitser syndrome.

References:

[1] - A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities. [2] - A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by intellectual disability, obesity, macrocephaly, behavioral abnormalities. [4] - Aug 30, 2024 — The perioperative management of antiepileptic drug therapy is important for seizure control in these patients. This case report describes the ... [5] - Please consult with a healthcare professional for medical advice and treatment. Print. Synonyms. Baraitser syndrome; Clark-Baraitser syndrome; MRD49; autosomal ...

Clark-Baraitser syndrome is a rare genetic disorder characterized by intellectual disability, delayed speech development, obesity, macrocephaly, behavioral abnormalities, and distinctive facial features [1][2]. When considering the differential diagnosis for Clark-Baraitser syndrome, several other conditions should be taken into account.

• Other autosomal dominant intellectual disability syndromes: Conditions such as Sotos syndrome, Beckwith-Wiedemann syndrome, and Perlman syndrome also present with intellectual disability and distinctive facial features [3][4].
• X-linked intellectual disability syndromes: Although Clark-Baraitser syndrome is now known to be autosomal dominant, X-linked conditions like Fragile X syndrome should still be considered in the differential diagnosis, especially if there are concerns about autism spectrum disorders or other X-linked traits [5].
• Metabolic and genetic disorders: Conditions such as Prader-Willi syndrome, which also presents with obesity and intellectual disability, may need to be ruled out through further diagnostic testing [6].

It's essential to note that Clark-Baraitser syndrome is a rare condition, and the differential diagnosis should be approached on a case-by-case basis. A comprehensive medical history, physical examination, and genetic testing can help differentiate Clark-Baraitser syndrome from other conditions.

References: [1] - Context result 2 [2] - Context result 5 [3] - Context result 4 [4] - Context result 7 [5] - Context result 3 [6] - Context result 8