[MIM 308 050]

Acronym for Congenital Hemidysplasia with Ichtyosiform nevus and Limb Defects.

X-linked dominant transmission of mutations of the NSDHL gene (Xq28) causing abnormal cholesterol biosynthesis (3β-hydroxysteroiderol dehydrogenase) and blood hypocholesterolemia. Generally lethal in males.

Association of:

-         unilateral erythroderma with a strict delimitation on the midline. It is present at birth or appears in the first weeks of life. This lesion is accompanied by ichtyoid lesions, mainly on the flexion creases and along the bands of Blaschko (lines of progression of fetal ectodermic cells); sometimes localized alopecia 

-         homolateral limb anomalies: aplasia of one finger, or even of one limb; hypoplasia of one limb; calcifications in cartilaginous structures

-        ipsilateral hypoplasia of other parts of the skeleton: scoliosis, hemivertebrae

-         possible ipsilateral hypoplasia of some organs: liver, brain, lung and kidney. sometimes cardiac defects.

-        sometimes: cleft lip.

Anesthetic implications: 

echocardiography;  chest XRay; difficult peripheral venous access and problems securing the venous catheters on the affected side.

References : 

-        du Souich C, Raymond FL, Grzeschick KH et al. 
NSDHL-related disorders. 
Gene Reviews Feb 16, 2012

-        Happle R, Koch H, Lenz W. 
The CHILD syndrome : Congenital Hemidysplasia with Ichtyosiform nevus and Limb Defects 
Eur J Pediatr 1980; 134: 27-33.

Updated: October 2019