GTR Home > Conditions/Phenotypes > Microphthalmia syndromic 7

Disease characteristics

Excerpted from the GeneReview: Microphthalmia with Linear Skin Defects Syndrome
Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microophthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include central nervous system involvement (e.g., structural anomalies, infantile seizures), developmental delay, heart defects (e.g., hypertrophic cardiomyopathy, oncocytic cardiomyopathy, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, preauricular pits and hearing loss, and genitourinary malformations. Inter- and intrafamilial variability is considerable.

Available tests

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Associated genes

Clinical features

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  • Irregular heart beat
  • Short stature
  • Agenesis of corpus callosum
  • Microcephaly
  • Intellectual disability, progressive
  • Clitoral hypertrophy
  • Anteriorly placed anus
  • Ventricular septal defect
  • Seizure
  • Cataract
  • Hydrocephalus
  • Hypoplasia of the uterus
  • Chordee
  • Hypospadias
  • Micropenis
  • Hearing impairment
  • Microphthalmos
  • Pigmentary retinopathy
  • Iris coloboma
  • Sclerocornea
  • Congenital diaphragmatic hernia
  • Absent septum pellucidum
  • Defect in the atrial septum
  • Abnormality of metabolism/homeostasis
  • Anal atresia
  • Overriding aorta
  • Oncocytic cardiomyopathy
  • Asymmetric, linear skin defects
  • Ovotestis
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