Skip to
  1. Homepage
  2. Rare diseases
  3. Search
Simple search

Simple search

(*) mandatory field


Other search option(s)

CHILD syndrome

Synonym(s) CHILD nevus
Congenital hemidysplasia with ichthyosiform nevus and limbs defects
Prevalence <1 / 1 000 000
Inheritance X-linked dominant
or Not applicable
Age of onset Infancy
  • Q87.8
  • C0265267
MeSH -
MedDRA -


Disease definition

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.


Less than 60 cases have been reported to date, mainly in female patients.

Clinical description

CS patients present at birth or shortly thereafter with unilateral yellow ichthyosiform nevi in the form of patches halting abruptly at the midline, with an affinity to skin folds (ptychotropism), generally sparing the face. A claw-like onychodystrophy and periungual hyperkeratosis are common and ipsilateral bald patches may be present. This is accompanied by ipsilateral limb defects, ranging from shortened metacarpals and phalanges to the absence of an entire limb. Additional malformations may include the absence of ribs, vertebrae and long bones, and scoliosis and joint contractures. During the first months of life, punctate calcification of cartilage (stippled epiphyses) may be noted on X-rays. Ipsilateral renal defects have been reported (unilateral hydronephrosis, renal agenesis; see this term). Most patients present with normal intellectual development, although unilateral CNS defects have often been reported including unilateral hypoplasia of cranial nerves and the spinal cord, lissencephaly and cerebellar malformation (see these terms). The involvement may be right or left-sided, but mild contralateral lesions are often noted. Over two-thirds of cases have presented with right-sided involvement, perhaps due to more severe cardiac involvement causing prenatal death in left-sided cases. Lung hypoplasia has also been reported in several cases. Hearing loss, optic atrophy, absence of some facial muscles, thrombocytosis, congenital bilateral hip dislocation, unilateral hypoplasia of the thyroid gland, adrenal glands, ovaries and fallopian tubes have been reported in single cases.


NSDHL (Xq28) encodes a protein responsible for cholesterol biosynthesis, mutations are typically lethal in males. X-inactivation creates a mosaic of cells lacking the enzyme in females, disrupting embryonic development and leading to a highly variable spectrum of anomalies.

Diagnostic methods

In most cases, the striking lateralization of all lesions, also noted on X-rays, is a strong diagnostic clue. Skin lesion histology reminiscent of psoriasis reveals hyperkeratosis and parakeratosis with inflammatory infiltrates. Biopsies from papillomatous lesions involving the body folds, however, show highly characteristic verruciform xanthoma in the form of lipid-laden histiocytes in the papillary dermis. Ultrasound of viscera, echocardiogram and full brain MRI are required to complement X-rays and identify all anomalies. Genetic testing confirms the diagnosis.

Differential diagnosis

Differential diagnoses include X-linked dominant chondrodysplasia punctata, linear nevus sebaceous syndrome and inflammatory linear verrucous epidermal nevus (see these terms).

Antenatal diagnosis

Genetic testing from chronic villus samples is available; certain anomalies may be identified during routine sonograms.

Genetic counseling

Transmission is X-linked dominant. Sporadic cases have been reported, but extreme X-inactivation may mask the phenotype. Mothers should be examined for the presence of minimal symptoms and tested for a NSDHL mutation. Carriers have a 50% chance of transmission to daughters, but cannot transmit to live-born sons.

Management and treatment

Lung and heart anomalies are potentially fatal and may require immediate surgical intervention. Renal anomalies may also require draining or removal of the affected kidney. Orthopedic braces or corrective surgery may be necessary. Contralateral autologous skin grafts have been successfully performed. Skin lesions are best treated by topical application of a lotion or ointment containing lovastatin or simvastatin in combination with cholesterol.


Prognosis is highly variable and based upon skeletal or cardiac anomalies. Cases of minimal involvement carry the risk of a severe disease in offspring.

Expert reviewer(s)

  • Pr Rudolf HAPPLE

(*) Required fields.

Attention: Only comments seeking to improve the quality and accuracy of information on the Orphanet website are accepted. For all other comments, please send your remarks via contact us. Only comments written in English can be processed.

Captcha image

Detailed information

Summary information
Practical genetics
Clinical genetics review
Get Acrobat Reader
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.