Lethal restrictive dermopathy (Q94225): Difference between revisions

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Latest revision as of 09:21, 16 August 2026

Lethal tight skin contracture syndrome is an inherited syndrome characterised by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. The major manifestations are the result of restricted in utero movements secondary to defective skin.

Language	Label	Description	Also known as
default for all languages	ID_713433700
English	Lethal restrictive dermopathy	Lethal tight skin contracture syndrome is an inherited syndrome characterised by the skin being drawn tightly over the face causing a narrow, pinched nose, small mouth, limited jaw mobility, and entropion. Severe and constant intrauterine growth retardation is observed as well as multiple joint contractures, and rigid and tense skin is easily eroded with fissures in the axilla and neck. The major manifestations are the result of restricted in utero movements secondary to defective skin.