Jeune Syndrome, asphyxiating thoracic dystrophy (ATD) is a rare genetic disorder that primarily affects the development of the bones, particularly the ribs and chest. It is part of a group of disorders known as skeletal dysplasia.
Causes Of Jeune Syndrome
Jeune syndrome is inherited in an autosomal recessive pattern and is caused by mutations in genes IFT80, DYNC2H1 involved in cilia function. These genes are important for the proper formation and function of the skeletal system.
Types Of Jeune Syndrome
Jeune Syndrome (Asphyxiating Thoracic Dystrophy) is considered a single disorder; it’s classified into types or subtypes based on genetic mutations and the severity of symptoms.
- Genetic Subtypes
Jeune syndrome is caused by mutations in different genes, which vary in symptoms.
- IFT80-related Jeune syndrome has classic skeletal features, a part of the intraflagellar transport complex B.
- DYNC2H1-related Jeune syndrome has more severe skeletal involvement with short-rib thoracic dysplasia.
- WDR19, TTC21B, WDR35: These genes works in ciliary function and complicates kidney and liver functions. These genetic forms has Short-Rib Thoracic Dysplasia (SRTD) with or without polydactyly.
- Clinical Subtypes:
It’s divided, in terms of severity:
In Mild form, chest narrowing is milder, with fewer respiratory problems.
In the Severe form, there is thoracic restriction, with early respiratory failure, which is serious in infancy. Jeune syndrome with organ severity has serious kidney, liver, and retinal issues in childhood or adolescence.
Symptoms Of Jeune Syndrome
Jeune Syndrome affects multiple parts of the body, mainly the skeleton, but also affects internal organs. Symptoms vary in severity and appear at birth or develop later in life.
- Skeletal Symptoms: The patient has a narrow, constricted chest with limited lung expansion and respiratory difficulties. They have short ribs resulting in a small, bell-shaped thoracic cavity, with short limbs, short fingers and toes due to abnormal bone growth.
Few patients have extra fingers or toes with bowed limbs or spine curvature.
- Respiratory Symptoms: The patients have breathing difficulties at birth due to chest restriction with recurrent respiratory infections. In infancy, respiratory failure is life-threatening.
- Kidney dysfunction: In childhood or adolescence, patients suffer from progressive kidney dysfunction, which leads to kidney failure
- Liver dysfunction: The patient suffers from liver fibrosis, which worsens over time.
- Eye problems: The patients have retinal degeneration leading to vision problems.
- Growth and Development: The patient has short stature with delayed motor development.
General Approach And Its Side Effects:
Jeune Syndrome has no cure, so treatment focuses on managing symptoms, supporting organ function, and improving quality of life.
- Respiratory support manages breathing difficulties caused by a narrow chest.
Patients are given oxygen therapy with low blood oxygen levels. In severe neonatal cases are managed with mechanical ventilation. The Surgical rib expansion or chest reconstruction, to enlarge the thoracic cavity and improve lung function.
Side Effects/Risks: Surgical risks for infection, bleeding, and scarring. The Long-term ventilator can cause lung damage or dependency
- Orthopaedic care is to monitor and manage skeletal abnormalities. Physical therapy is given to support mobility. Surgical correction for spine deformities or limb alignment.
Side Effects/Risks: Surgery-related complications with joint stiffness or delayed healing.
- Kidney monitoring and management help to detect and manage renal dysfunction earlier.
Regular kidney function tests for early signs of kidney disease or electrolyte imbalances. If kidney failure, dialysis or a kidney transplant is needed.
Side Effects/Risks:
Medication side effects, immunosuppressants post-transplant, with dialysis complications.
- Liver and Eye ultrasound or liver function tests to monitor eye and liver health.
Side Effects/Risks to observe disease progression.
- Genetic counselling is given to families explaining inheritance patterns and recurrence risk.
Homeopathic Approach With Remedies:
Homeopathic Approach to Jeune Syndrome
Homeopathy supportive help manage secondary symptoms like recurrent infections, slow growth, or fatigue.
- Calcarea Carbonica: Its indicated for poor bone development, frequent respiratory infections, delayed milestones, sweating on the head during sleep.
- Silicea: It’s choosen for weak immune system, recurrent chest infections, poor assimilation of nutrients with delayed healing of bones and tissues.
- Calcarea Phosphorica: Its indicated for delayed bone and tooth development, growing pains, for thin, undernourished children who are restless and irritable.
- Arsenicum Album: Its choosen for burning urination or protein loss with anxiety, restlessness, fatigue, weakness after illness.
- Phosphorus: It’s choosen for lung weakness and frequent respiratory infections with Bleeding tendencies or fatigue.
Diet Chart Of Jeune Syndrome
Jeune Syndrome primarily affects the skeletal and respiratory systems, with kidney and liver dysfunctioning. Foods Supporting bone growth, reducing inflammation, boosting immune function, protecting kidney and liver health
Diet Chart:
Early morning:
Warm water with a pinch of turmeric.
Breakfast:
If kidney is healthy, boiled egg with paneer and whole grain oats and banana can be taken.
Mid-morning:
Fresh fruits with almonds and walnuts.
Lunch:
Brown rice or tofu with steamed vegetables.
Evening:
Herbal tea or warm milk.
Dinner:
Vegetable soup with khichdi and boiled vegetables, grilled fish or moongdal.
Before bed:
Warm milk with turmeric should be taken.
Diet guidelines
Do’s:
- Food should be high in calcium, vitamin D and protein for bone support
- Low sodium, phosphorus, and potassium should be taken.
- Anti-inflammatory foods to support lung and liver health should be included.
Don’ts:
Processed foods, junk food.
High-sodium items.
Excess phosphorus.
Sugary snacks or drinks.
FAQ’S OF JEUNE SYNDROME:
- Is Jeune Syndrome curable?
No, there is no cure, but with early detection and supportive treatment quality of life and lifespan is improved.
- How is Jeune Syndrome diagnosed?
Ultrasound, X-rays to assess bone structure, Genetic testing to confirm mutations, Organ function tests helps to confirm the diagnosis.
- What treatments are available?
- Respiratory support, monitoring and managing kidney/liver function, Physical therapy for mobility, nutritional support, genetic counseling.
- What is the life expectancy?
It varies. Some children may die in infancy due to respiratory failure, others with milder forms survive with proper care.
- Can future children be affected if I have one child with Jeune Syndrome?
Yes. If both parents are carriers, there’s a 25% chance with each pregnancy that the child will be affected. Genetic counseling is suggested.
Conclusion
It is a challenging disease, but by the intervention in early stages, good management, and combined treatments such as homeopathy, patients can improve their quality of life. Dr. Vaseem Choudhary and his experienced team of professionals at Homeo Care Clinic are homeopathic treatment specialists who treat children afflicted with neurological disorders by providing them with natural but effective individualized medicines.
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