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Dictionary » Microphthalmia-dermal aplasia-sclerocornea syndrome
 

Microphthalmia-dermal aplasia-sclerocornea syndrome

Introduction: Microphthalmia-dermal aplasia-sclerocornea syndrome

Description of Microphthalmia-dermal aplasia-sclerocornea syndrome

Microphthalmia-dermal aplasia-sclerocornea syndrome: Linear areas of erythematous skin dysplasia involving the chin, neck, and head, occurring in association with microphthalmia, corneal opacities, and orbital cysts. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, mental retardation, and nail dystrophy. Some features of the phenotype of this syndrome overlap those of Aicardi and Goltz syndromes.
Source: Diseases Database

Microphthalmia-dermal aplasia-sclerocornea syndrome: Related Topics

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Source: Diseases Database

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