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GTR Home > Conditions/Phenotypes > Linear skin defects with multiple congenital anomalies 3

Linear skin defects with multiple congenital anomalies 3

Synonyms
LINEAR SKIN DEFECTS WITH CARDIOMYOPATHY AND OTHER CONGENITAL ANOMALIES

Summary

Excerpted from the GeneReview: Microphthalmia with Linear Skin Defects Syndrome
Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia 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 a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
References
Chapter Notes
Authors:
Manuela Morleo
Brunella Franco
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Available tests

15 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (15 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: CI-ESSS, ESSS, MC1DN30, NP17.3, Np15, P17.3, NDUFB11
    Summary: NADH:ubiquinone oxidoreductase subunit B11

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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