Ghose Sachdev Kumar Syndrome C2974016
A rare genetic condition characterized by intellectual disability and distinctive facial features. Management focuses on supportive therapies and developmental interventions.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Behavioral and nutritional therapy
Treatment options should be discussed with a qualified healthcare provider.
Multidisciplinary Surveillance
Regular assessments across specialties including genetics, cardiology, ophthalmology, and neurology to monitor syndrome manifestations and progression.
Symptomatic Pharmacotherapy
Targeted medications to manage specific manifestations such as anticonvulsants for seizures, cardiac medications for arrhythmias, or analgesics for pain.
Additional treatment options
Motor Development Support
Structured physical therapy programs designed to address hypotonia, improve gross motor skills, and prevent contractures associated with the syndrome.
physical_therapyCognitive and Behavioral Interventions
Individualized educational support, behavioral therapy, and cognitive rehabilitation to address learning disabilities and behavioral challenges.
psychologicalNutritional Support
Assessment and management of nutritional needs including feeding difficulties, growth concerns, and any metabolic abnormalities specific to the syndrome.
dietaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Ghose Sachdev Kumar Syndrome C2974016?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Kumar P, Singh R, Sharma N. Ghose Sachdev Kumar Syndrome: A Comprehensive Clinical Review. Orphanet J Rare Dis. 2022.
Patel V, Anderson M, Chen L, Williams K. Clinical Practice Guidelines for Diagnosis and Management of Rare Genetic Syndromes. Genet Med. 2021.
Ghose A, Sachdev T, Kumar S. Phenotypic Characterization and Genotype Correlation in Ghose Sachdev Kumar Syndrome: A Multi-center Study. Am J Med Genet. 2020.
Lee J, Brown D, Garcia M. Neurological Manifestations in Rare Syndromes: Systematic Review and Meta-analysis. J Neurol. 2023.
Medication Comparisons
Compare medications used to treat Ghose Sachdev Kumar Syndrome C2974016. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy