Microphthalmia with linear skin defects syndrome

doi:10.32388/6l7a9l

Abstract

Summary Disease characteristics. Microphthalmia with linear skin defects (MLS) syndrome is characterized byunilateral or bilateral microophthalmia and/or anophthalmia and linear skin defects, usually involving theface and neck, which are present at birth and heal with age, leaving minimal residual scarring. Otherfindings can include central nervous system involvement (such as structural anomalies and infantileseizures); developmental delay; heart defects (such as hypertrophic cardiomyopathy, oncocyticcardiomyopathy, and arrhythmias); short stature; diaphragmatic hernia; nail dystrophy; preauricular pitsand hearing loss; and genitourinary malformations. Inter- and intrafamilial variability is considerable. Diagnosis/testing. Diagnosis is based on clinical findings and detection of either a chromosomalabnormality that results in monosomy for Xp22 or mutation of HCCS, the only gene known to beassociated with MLS syndrome. Such testing is clinically available. Management. Treatment of manifestations:

Highlights

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin
MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), called microphthalmia with linear skin defects syndrome, is characterized by ocular defects and linear skin dysplasia of the neck, head, and chin
Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an Xlinked dominant trait with male lethality

Summary

Introduction

MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin.

Results

Conclusion