Living with Child syndrome
A genetic condition that affects how parts of the body form, mostly on one side, including the skin and limbs.
Understanding Child syndrome
The name stands for congenital hemidysplasia with ichthyosiform erythroderma and limb defects. The right side of the body is affected more often than the left. Skin changes are usually present at birth or appear in the first few weeks of life, and they may improve with time. Some children also have limb differences, curved spine (scoliosis), or stiff joints (contractures). In some cases the brain, heart, lungs, and kidneys are affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Red, inflamed skin with yellow flaky scales
- Thickened skin (hyperkeratosis)
- Changes in the nails
- Shortened or missing bones in the hands or feet
- Shortened bones in the hand (short metacarpals)
- Speckled spots in the bone ends on X-ray (epiphyseal stippling)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include bone and joint specialists, cancer specialists, genetic specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in NSDHL are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Foundation for Ichthyosis and Related Skin Types may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Cancer specialists (oncologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Foundation for Ichthyosis and Related Skin Types
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Foundation for Ichthyosis and Related Skin Types and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the NSDHL gene cause CHILD syndrome. It is X-linked, which means the gene is on the X chromosome.
Also known as: child (congenital hemidysplasia, ichthyosiform erythroderma, limb defects) syndrome; child nevus; child syndrome, x-linked dominant; congenital hemidysplasia with ichthyosiform erythroderma and limb defects syndrome; congenital hemidysplasia with ichthyosiform nevus and limbs defects; ichthyosis, child syndrome
Patient organizations
- Foundation for Ichthyosis and Related Skin TypesIchthyosis · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Child syndrome.
Explore research for Child syndrome
Explore actively recruiting Child syndrome studies with HealthSpark.
Find actively recruiting studies for Child syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Child syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Child syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Child syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.