Congenital Hemidysplasia with Ichthyosiform Erythroderma and Limb Defects [Supplementary Concept]

mutation in NSDHL

Date introduced: November 5, 2012

MeSH Unique ID: C562515

Heading Mapped to:

• Abnormalities, Multiple
• Ichthyosiform Erythroderma, Congenital
• Limb Deformities, Congenital
• Genetic Diseases, X-Linked

Entry Terms:

• CHILD Syndrome
• Ichthyosiform Erythroderma, Unilateral, with Ipsilateral Malformations, Especially Absence Deformity Of Limbs