CHILD Syndrome Clinical Presentation

Updated: Aug 20, 2019
  • Author: Amanda T Moon, MD; Chief Editor: Dirk M Elston, MD  more...
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CHILD (congenital hemidysplasia with ichthyosiform erythroderma and limb defects) syndrome is a congenital disorder, often with a constellation of striking physical anomalies that assist the clinician in making the diagnosis. [19] 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 majority of CHILD syndrome cases are sporadic, there is a known X-linked dominant inheritance pattern. Reports have described families in which there is extreme X-inactivation resulting in milder and limited clinical features of the disease. Therefore, a thorough history may reveal an X-linked dominant pattern. [20]


Physical Examination

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. [21] 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, 22] Skin lesions seen in CHILD syndrome typically involve the neck, body, extremities, and perineum. [8] Unilateral ptychotropism, or affinity for body folds, is common. [23] The most frequently affected skinfolds 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. [24] VXs are also associated with chronic inflammation, graft versus host disease, and lymphedema. [25]

The nails are also commonly affected in CHILD syndrome. According to the Human Phenotype Ontology database, 30-79% of people have nail abnormalities and hyperkeratosis. [11] Additionally, a scarring alopecia can occur, most often on the affected side. [16, 26]


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. [27] Unilateral epiphyseal stippling of the pelvis, ribs, vertebrae, and extremities can be noted on radiographs in infants. [3] Of individuals with CHILD syndrome, 80-99% have aplasia/hypoplasia of the extremities and epiphyseal stippling. [11]


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.



Noncutaneous anomalies contribute to the most serious complications. Congenital cardiac defects are the main cause of early death in children. Other significant problems can occur with involvement of the musculoskeletal, renal, pulmonary, or central nervous systems.