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A Rare Story That Highlights the Importance of Early Diagnosis
Every year, a small number of babies around the world are born with rare genetic conditions that require highly specialized medical care from birth. One such condition is Ellis Van Creveld (EVC) syndrome, an uncommon inherited disorder affecting approximately 1 in 60,000 to 200,000 live births.
A recently published case from Kashmir demonstrated how early prenatal suspicion, coordinated multidisciplinary care, prompt neonatal management, and continuous family support helped stabilize an infant born with Ellis Van Creveld syndrome complicated by severe pulmonary hypertension—a potentially life-threatening condition affecting the blood vessels of the lungs.
The case serves as an important reminder that timely diagnosis and expert medical care can significantly improve outcomes, even in rare and complex disorders.
What is Ellis Van Creveld Syndrome?
Ellis Van Creveld syndrome is a rare inherited genetic disorder caused by mutations in the EVC or EVC2 genes. It follows an autosomal recessive inheritance pattern, meaning a child must inherit an altered gene from both parents to develop the condition.
The syndrome primarily affects:
Bone growth
Hands and feet
Heart
Teeth
Nails
Hair
Chest development
Although uncommon, the condition requires lifelong medical follow-up because several body systems may be involved.
Common Features of Ellis Van Creveld Syndrome
Children with EVC syndrome may present with:
Short stature with shortened arms and legs
Extra fingers or toes (polydactyly)
Congenital heart defects
Narrow chest
Abnormal fingernails and toenails
Dental abnormalities
Sparse hair
Characteristic facial features
Not every child develops all these features, and the severity can vary considerably.
Prenatal Detection Can Make a Difference
Many cases can first be suspected during a detailed second-trimester fetal anomaly scan.
Healthcare professionals may identify warning signs such as:
Shortened long bones
Extra fingers
Narrow chest
Possible congenital heart abnormalities
When these findings are present, parents are usually offered:
Detailed fetal ultrasound
Fetal echocardiography
Genetic counselling
Close pregnancy monitoring
Delivery planning at a hospital equipped with neonatal intensive care
Early recognition allows medical teams to prepare for specialized care immediately after birth.
Understanding Severe Pulmonary Hypertension in Newborns
One of the most serious complications in this case was severe pulmonary hypertension.
Pulmonary hypertension occurs when the blood pressure inside the arteries supplying the lungs becomes dangerously high. This forces the heart to work much harder and reduces oxygen delivery throughout the body.
Symptoms may include:
Rapid breathing
Bluish discoloration of the lips or skin (cyanosis)
Poor feeding
Low oxygen levels
Difficulty gaining weight
Respiratory distress
Without timely treatment, pulmonary hypertension can become life-threatening.
Diagnosis After Birth
Following delivery, babies suspected of having Ellis Van Creveld syndrome undergo careful clinical evaluation.
Investigations may include:
Complete physical examination
Echocardiography
Chest X-ray
Oxygen monitoring
Blood investigations
Genetic testing (when available)
These tests help doctors understand the extent of heart, lung, and skeletal involvement and guide treatment planning.
Treatment and Multidisciplinary Care
There is currently no cure for Ellis Van Creveld syndrome, but many complications can be successfully managed with early intervention.
Treatment depends on each child's needs and may include:
Oxygen therapy
Medicines to reduce pulmonary hypertension
Cardiac support
Nutritional support
Neonatal intensive care (NICU)
Monitoring for respiratory infections
Developmental assessment
Orthopaedic care
Dental follow-up
Planned cardiac surgery when necessary
Successful management often requires collaboration between:
Obstetricians
Fetal medicine specialists
Paediatricians
Neonatologists
Paediatric cardiologists
Geneticists
Radiologists
NICU nurses
Rehabilitation specialists
This multidisciplinary approach gives affected children the best opportunity for improved health and quality of life.
Why Genetic Counselling Matters
Since Ellis Van Creveld syndrome is inherited in an autosomal recessive manner, genetic counselling plays an essential role.
Counselling helps families understand:
The genetic cause of the disorder
Risks in future pregnancies
Available prenatal screening options
Emotional and practical support
Long-term care planning
Families are encouraged to discuss future pregnancy planning with their healthcare team.
What Parents Should Remember
Although Ellis Van Creveld syndrome is rare, early recognition can make a significant difference.
Parents should seek immediate medical attention if a newborn develops:
Difficulty breathing
Persistent bluish discoloration
Poor feeding
Excessive sleepiness
Poor weight gain
Signs of heart disease
Prompt evaluation allows life-saving treatment to begin as early as possible.
Hope Through Early Intervention
Rare genetic disorders often present significant medical and emotional challenges for families. However, advances in prenatal imaging, neonatal intensive care, paediatric cardiology, and multidisciplinary teamwork have greatly improved outcomes for many affected children.
The recently reported case from Kashmir highlights how coordinated care, early diagnosis, continuous monitoring, and family-centred support can help infants with complex genetic disorders survive and receive the specialized treatment they need.
While every child is unique, this experience reinforces an important message: timely diagnosis and expert medical care can change lives.
Key Takeaways
Ellis Van Creveld syndrome is a rare inherited genetic disorder.
Prenatal anomaly scans may identify the condition before birth.
Congenital heart disease and severe pulmonary hypertension can be life-threatening complications.
Early multidisciplinary care improves outcomes.
Genetic counselling is important for affected families.
Long-term follow-up helps support healthy growth and development.
References
Shabir B, Daraz ZH. Severe Pulmonary Hypertension in an Infant with Ellis Van Creveld Syndrome: A Rare Case Report. Asian Journal of Pregnancy and Childbirth. 2026;9(1):236–242. doi: 10.9734/AJPCB/2026/v9i1206
https://journalajpcb.com/index.php/AJPCB/article/view/206
ETV Bharat. Kashmiri Infant's Survival Story Sheds Light On Little-Known Syndrome. Published July 3, 2026.
https://www.etvbharat.com/en/health/infant-kashmir-ellis-van-creveld-syndrome-enn26070304993