Short answer · Medically reviewed summary · Last updated: 2026-05-08
Costello syndrome is a rare genetic disorder characterized by multisystem involvement, most notably failure to thrive in infancy, distinct craniofacial features, and cardiac abnormalities. Symptoms typically manifest early in life and require a multidisciplinary approach to manage the diverse physical and developmental challenges associated with Costello syndrome. What are the primary clinical features of Costello syndrome? Individuals with Costello syndrome often exhibit a spectrum of symptoms that affect physical growth, heart health, and cognitive development.
Which are the symptoms of Costello Syndrome?
Symptoms of Costello Syndrome reported by real patients, from the most common to the most limiting, plus a medically reviewed summary with sources.
Costello syndrome is a rare genetic disorder characterized by multisystem involvement, most notably failure to thrive in infancy, distinct craniofacial features, and cardiac abnormalities. Symptoms typically manifest early in life and require a multidisciplinary approach to manage the diverse physical and developmental challenges associated with Costello syndrome.
What are the primary clinical features of Costello syndrome?
Individuals with Costello syndrome often exhibit a spectrum of symptoms that affect physical growth, heart health, and cognitive development. While each person's experience is unique, the most frequently observed clinical features include:
- Growth and feeding: Severe failure to thrive in infancy followed by short stature and a tendency toward macrocephaly.
- Cardiac health: A high prevalence of hypertrophic cardiomyopathy, congenital heart defects, and arrhythmias.
- Dermatological findings: Loose, soft skin, deep palmar creases, and papillomata (small skin growths) that often appear in childhood.
- Developmental delays: Mild to moderate intellectual disability and delayed motor milestones.
- Musculoskeletal issues: Tight Achilles tendons and joint laxity.
How does Costello syndrome affect daily quality of life?
The impact of Costello syndrome on daily life is largely dictated by feeding difficulties and cardiac management. Many infants require gastrostomy tubes due to significant oral-motor dysfunction. Furthermore, the increased risk of malignancy—specifically rhabdomyosarcoma and neuroblastoma—requires ongoing surveillance, which can be emotionally and logistically taxing for families.
When should families seek immediate medical attention?
Given the cardiovascular risks inherent to Costello syndrome, families should seek urgent evaluation if a child experiences unexplained fainting (syncope), chest pain, or sudden shortness of breath. Additionally, any rapidly growing skin lesions should be evaluated by a dermatologist, as Costello syndrome carries an elevated lifetime risk of cancer.
How do symptoms progress over time?
The clinical presentation of Costello syndrome is dynamic. While feeding issues may improve with age, the risks of cardiac complications and potential malignancies persist into adulthood. Regular screening protocols, including echocardiograms and cancer surveillance, are essential as the patient matures.
Next steps
- Consult a clinical geneticist to confirm the diagnosis via HRAS gene testing.
- Schedule regular follow-ups with a pediatric cardiologist familiar with Costello syndrome.
- Join the DiseaseMaps.org community to connect with the 13 members currently sharing their experiences.
- Engage with the Costello Kids Foundation for specialized resources and peer support.
Medical disclaimer: This information is for educational purposes only and does not replace professional medical advice, diagnosis, or treatment.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Costello Syndrome
- Orphanet: Costello Syndrome (ORPHA:205)
- OMIM (Online Mendelian Inheritance in Man): Costello Syndrome (#218040)
- Costello Kids Foundation (costellokids.com)
