Brain and cerebellar hemidysplasia in a case with ipsilateral body dysplasia and suspicion of CHILD syndrome.

[child syndrome]

CHILD syndrome is an acronym for Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects . This is an X-linked dominant disorder affecting females with early lethality in hemizygous males . The clinical features are congenital hemidysplasia with ichthyosiform erythroderma and ipsilateral hypoplasia of limbs and other parts of the skeleton as well as defects of the brain , heart , kidney and lung . CHILD syndrome is caused by mutations in the NSDHL (steroid dehydrogenase-like protein ) gene at Xq 28 , which affects cholesterol biosynthesis . A female premature newborn with left side body hemidysplasia and ipsilateral defects of the skin , visceral organs and brain is reported . Analysis of child DNA isolated from skin fibroblasts showed missense mutation c .1046 A >G ;PpY 349 C in the NSDHL gene that could cause the phenotype .

Diseases
Validation

Diseases presenting "skin fibroblasts" symptom

child syndrome

cowden syndrome

cystinuria

dentinogenesis imperfecta

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

gm1 gangliosidosis

homocystinuria without methylmalonic aciduria

krabbe disease

malignant atrophic papulosis

monosomy 21

neonatal adrenoleukodystrophy

pyruvate dehydrogenase deficiency

werner syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

You can validate or delete this automatically detected symptom