Overview
CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects) is an extremely rare X-linked dominant disorder caused by mutations in the NSDHL gene (NAD[P]H steroid dehydrogenase-like protein), which encodes an enzyme involved in cholesterol biosynthesis. The condition is characterized by a striking unilateral (one-sided) distribution of skin and skeletal abnormalities. It occurs almost exclusively in females, as it is typically lethal in affected males during embryonic development. The hallmark feature of CHILD syndrome is an inflammatory ichthyosiform (scaly, red) skin eruption that is sharply demarcated at the midline and predominantly affects one side of the body. The skin lesions are waxy, yellowish, and may be associated with epidermal nevi. Limb defects on the affected side range from mild shortening of fingers or toes (brachydactyly) to complete absence of a limb (amelia). Ipsilateral (same-side) involvement of internal organs can also occur, including hypoplasia of the lung, kidney, or brain hemisphere. Cardiac defects, particularly on the affected side, have also been reported. Treatment of CHILD syndrome is primarily supportive and symptomatic. Topical therapies aimed at correcting the local cholesterol deficiency, such as topical cholesterol combined with lovastatin (a cholesterol synthesis pathway modulator), have shown promising results in improving the skin manifestations. Orthopedic interventions may be necessary for limb defects, and multidisciplinary care involving dermatology, orthopedics, cardiology, and other specialties is recommended depending on the organs involved. Genetic counseling is important for affected families.
Clinical phenotype terms— hover any for plain English:
X-linked dominant
Carried on the X chromosome; a single copy can cause the condition
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
10 eventsNational Cancer Institute (NCI)
Steffi Baker
Central Hospital, Nancy, France
University Hospital, Grenoble — NA
Riphah International University — NA
Riphah International University — NA
Mao Jianhua — PHASE2
University of Surrey — NA
Nantes University Hospital
Children's Hospital of Fudan University
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for CHILD syndrome.
3 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Rare Disease Specialist
Rare Disease Specialist
Rare Disease Specialist
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to CHILD syndrome.
Community
No community posts yet. Be the first to share your experience with CHILD syndrome.
Start the conversation →Latest news about CHILD syndrome
Disease timeline:
New recruiting trial: Precision Medicine for L/GCMN and Melanoma 1
A new clinical trial is recruiting patients for CHILD syndrome
New recruiting trial: A Study of Pembrolizumab (MK-3475) in Pediatric Participants With an Advanced Solid Tumor or Lymphoma (MK-3475-051/KEYNOTE-051)
A new clinical trial is recruiting patients for CHILD syndrome
New recruiting trial: Project: Every Child for Younger Patients With Cancer
A new clinical trial is recruiting patients for CHILD syndrome
New recruiting trial: DETERMINE Trial Treatment Arm 02: Atezolizumab in Adult, Paediatric and Teenage/Young Adult Patients With Cancers With High Tumour Mutational Burden (TMB) or Microsatellite Instability-high (MSI-high) or Proven Constitutional Mismatch Repair Deficiency (CMMRD) Disposition
A new clinical trial is recruiting patients for CHILD syndrome
New recruiting trial: Quality of Life and Stigmatization in Children With Congenital Melanocytic Nevi Before and After Nevus Excision
A new clinical trial is recruiting patients for CHILD syndrome
New recruiting trial: MELCAYA - Novel Health Care Strategies for Melanoma in Children, Adolescents, and Young Adults - Work Package 3 (WP3)
A new clinical trial is recruiting patients for CHILD syndrome
New recruiting trial: Artificial Intelligence Based Melanoma Early Diagnosis and Risk Prediction in Children, Adolescents and Young Adults
A new clinical trial is recruiting patients for CHILD syndrome
New recruiting trial: Effects of Alexander Technique in Children With Upper Cross Syndrome.
A new clinical trial is recruiting patients for CHILD syndrome
New recruiting trial: Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism
A new clinical trial is recruiting patients for CHILD syndrome
New recruiting trial: Effect of Sodium-glucose Cotransporter-2 Inhibitors (SGLT-2i) on Proteinuria in Nephrotic Children Older Than 10 Years
A new clinical trial is recruiting patients for CHILD syndrome
Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Common questions about CHILD syndrome
What is CHILD syndrome?
CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects) is an extremely rare X-linked dominant disorder caused by mutations in the NSDHL gene (NAD[P]H steroid dehydrogenase-like protein), which encodes an enzyme involved in cholesterol biosynthesis. The condition is characterized by a striking unilateral (one-sided) distribution of skin and skeletal abnormalities. It occurs almost exclusively in females, as it is typically lethal in affected males during embryonic development. The hallmark feature of CHILD syndrome is an inflammatory ichthyosiform (scaly, re
How is CHILD syndrome inherited?
CHILD syndrome follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does CHILD syndrome typically begin?
Typical onset of CHILD syndrome is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for CHILD syndrome?
Yes — 3 recruiting clinical trials are currently listed for CHILD syndrome on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat CHILD syndrome?
25 specialists and care centers treating CHILD syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.