Schinzel-Giedion Syndrome (SGS) is a rare genetic disorder caused by mutations in the SETBP1 gene. It is characterized by severe developmental delays, distinctive facial features, multiple congenital anomalies, and a high risk of childhood cancers.
Causes of Schinzel-Giedion Syndrome
- SETBP1 Gene Mutation-
The SETBP1 gene is located on chromosome 18 (18q12.3).
Mutations in this gene lead to abnormal protein function, which disrupts normal cell growth, development, and differentiation.
These mutations cause abnormal brain development, facial features, and organ malformations.
- De Novo Mutations-
In almost all cases, the mutation occurs spontaneously (de novo) in the affected child.
This means that parents do not carry or pass down the mutation.
The risk of having another child with SGS is very low, but genetic counseling is recommended.
- Mechanism of Disease
The mutant SETBP1 protein is overactive, leading to excessive cell signaling and abnormal tissue development.
This affects brain function, and organ formation, and increases the risk of tumors.
- Is SGS Inherited?
No, SGS is not inherited in the typical sense.
Since mutations happen randomly, parents are usually not affected carriers.
Rarely, mosaicism (when some of a parent’s cells carry the mutation) could slightly increase the risk in future pregnancies.
Symptoms of Schinzel-Giedion Syndrome
Schinzel-Giedion Syndrome (SGS) is a severe genetic disorder that affects multiple body systems. Symptoms are present from birth and worsen over time.
- Distinctive Facial Features
Prominent forehead (frontal bossing)
Deep-set eyes with a wide nasal bridge
Upturned nose with a short philtrum (space between nose and upper lip)
Low-set, malformed ears
Wide mouth with a thin upper lip
Excess facial hair (hirsutism) in some cases
- Severe Developmental Delay & Neurological Symptoms
Profound intellectual disability (severe cognitive impairment)
Hypotonia (low muscle tone) leading to poor motor skills
Seizures (often resistant to treatment.
Feeding difficulties requiring tube feeding
Hearing and vision impairments
- Skeletal & Growth Abnormalities
Short stature and slow growth
Clubfoot or other limb deformities
Delayed bone development
- Organ Malformations
Kidney abnormalities, such as hydronephrosis (swelling of kidneys)
Heart defects, including congenital heart disease
Respiratory issues, leading to frequent infections and difficulty breathing
- Increased Cancer Risk
Higher chance of developing childhood tumors, especially neuroepithelial tumors.
- Other Symptoms
Frequent respiratory infections
Gastrointestinal issues, including reflux and constipation
Difficulty swallowing (dysphagia)
Homeopathy Medicine for Schinzel-Giedion Syndrome
1)Cuprum Metallicum – For seizures with muscle spasms.
2)Belladonna – For sudden, intense seizures with fever.
3)Bufo Rana – Used for seizure disorders with developmental delays.
4)Calcarea Phosphorica – Supports bone and muscle growth.
5)Baryta Carbonica – For delayed mental and physical development.
Frequently Asked Questions (FAQs) About Schinzel-Giedion Syndrome (SGS)
- What is Schinzel-Giedion Syndrome (SGS)?
Ans-Schinzel-Giedion Syndrome (SGS) is a rare genetic disorder caused by mutations in the SETBP1 gene. It leads to severe developmental delays, facial abnormalities, organ malformations, and a higher risk of childhood tumors.
- What causes SGS?
Ans-SGS is caused by de novo (new) mutations in the SETBP1 gene, meaning it is not inherited from parents. These mutations happen randomly during early development.
- What are the main symptoms of SGS?
Ans-Distinctive facial features (prominent forehead, deep-set eyes, wide nasal bridge, low-set ears).
Severe developmental delays & intellectual disability.
Seizures (often resistant to treatment).
Organ malformations, especially in the kidneys and heart.
Frequent infections & feeding difficulties.
Higher risk of childhood tumors.
- How is SGS diagnosed?
Ans-SGS is diagnosed through genetic testing (Whole Exome Sequencing or SETBP1 gene analysis) after identifying characteristic symptoms.
- Is there a cure for SGS?
Ans- There is no cure for SGS. Treatment focuses on managing symptoms and improving quality of life through supportive care.
In conclusion, Homeo Care Clinic offers a holistic approach to treating Schinzel Giedion Syndrome. The remedies mentioned above can treat the underlying causes of the condition and offer relief from the discomfort. However, it is important to consult a qualified homeopathic practitioner for the correct dosage and duration of treatment. Homeo Care Clinic provides comprehensive care for various ailments and offers customized treatment plans based on individual requirements.
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