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CHILD Syndrome Clinical Presentation

  • Author: Neil Alan Fenske, MD; Chief Editor: Dirk M Elston, MD  more...
Updated: Aug 05, 2014


CHILD syndrome is a congenital disorder, often with a constellation of striking physical anomalies that assist the clinician in making the diagnosis.[14] Nevertheless, taking a careful history and review of systems, in addition to performing a physical examination and further testing, is important in order to determine the extent of involvement in the individual patient. In addition, the family history should also be explored. Although the inheritance pattern of CHILD syndrome is X-linked dominant, the majority of cases are sporadic. However, reports of families in which female relatives exhibit milder and limited clinical features suggest that a thorough history may reveal an X-linked dominant pattern.[15]



CHILD syndrome is a disorder with ipsilateral involvement of the skin, the viscera, and the musculoskeletal and central nervous systems.

Skin and nails

Cutaneous manifestations include unilateral, waxy, scaling, (ichthyosiform) erythematous plaques with a sharp midline demarcation present at birth or shortly thereafter and persistent throughout life. The distinct unilateral pattern may be diffuse and/or linear, with streaks following the lines of Blaschko.[16] The face is usually spared. Right-sided involvement occurs at least twice as often as left-sided involvement. Small patches of involved skin can occur on the contralateral side, and bilateral, symmetric involvement has been described.[6, 17] Ptychotropism, or affinity for body folds, is common.[18] The most frequently affected areas are the vulva, axillae, and gluteal folds.

Verruciform xanthomas (VXs) have also been associated with CHILD syndrome; VXs are rare benign tumors usually found on the oral mucosa or in the anogenital region, but the VXs found in CHILD syndrome are usually nonoral and nongenital. VXs are also associated with chronic inflammation, graft versus host disease, and lymphedema.[19]

The nails are often affected, and a scarring alopecia can occur, most often on the affected side.[20, 21]


Musculoskeletal abnormalities include ipsilateral limb reduction defects ranging from hypoplasia of the phalanges to agenesis of an extremity. Ipsilateral hypoplasia of the axial skeleton, including the calvaria, mandible, scapula, ribs, and vertebrae, which can lead to scoliosis, can also be present. Epiphyseal stippling can be noted on radiographs in infants.[22]


Multiple ipsilateral anomalies of the viscera and central nervous system are observed in individuals with CHILD syndrome. These anomalies include cardiac malformations and ipsilateral hypoplasia of the brain, lungs, thyroid, and reproductive tract. The ipsilateral kidney also may be involved. Cardiovascular malformations are the most common causes of early death and are encountered most often in left-sided cases.



CHILD syndrome is caused by an X-linked dominant mutation in the NSDHL gene encoding for an enzyme in the cholesterol biosynthetic pathway.[5, 6] The exact pathogenesis by which this mutation causes the clinical findings in individuals with CHILD syndrome is still under investigation, but contributing factors likely include deficient cholesterol synthesis, buildup of toxic metabolites in the cholesterol biosynthesis pathway, and abnormal sonic hedgehog signaling.[21, 23]

Contributor Information and Disclosures

Neil Alan Fenske, MD Chairman, Department of Dermatology and Cutaneous Surgery, Professor, Department of Dermatology and Cutaneous Surgery, Department of Pathology and Cell Biology, Department of Oncologic Sciences, Medical Director, Health Cosmetic and Laser Center, University of South Florida College of Medicine

Disclosure: Received none from Abbvie for speaking and teaching; Received none from Valeant for speaking and teaching.


Garrett J Nelson, MD Resident Physician, Department of Dermatology, University of South Florida Morsani College of Medicine

Garrett J Nelson, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Society for Dermatologic Surgery

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Van Perry, MD Assistant Professor, Department of Medicine, Division of Dermatology, University of Texas School of Medicine at San Antonio

Van Perry, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Abdul-Ghani Kibbi, MD Professor and Chair, Department of Dermatology, American University of Beirut Medical Center, Lebanon

Disclosure: Nothing to disclose.


Elizabeth Arrington, MD Resident Physician, Department of Dermatology, University of South Florida

Elizabeth Arrington, MD is a member of the following medical societies: Alpha Omega Alpha

Disclosure: Nothing to disclose.

Richard (Rick) L Moore, MD Staff Physician, Department of Dermatology and Cutaneous Surgery, University of South Florida

Richard (Rick) L Moore, MD is a member of the following medical societies: American Academy of Dermatology and American Medical Association

Disclosure: Nothing to disclose.

Babak Roshdieh, MD Consulting Staff, Department of Dermatology, Sierra View District Hospital

Disclosure: Nothing to disclose.

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