Orphanet: Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

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Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

Disease definition

A rare mitochondrial DNA depletion syndrome characterized by congenital or early-onset lactic acidosis, hypotonia, and severe global developmental delay with feeding difficulties and failure to thrive. It is frequently associated with variable dysmorphic facial features. Additional manifestations include seizures, movement disorders, and cardiac and ophthalmologic anomalies, among others. Brain imaging may show generalized atrophy and white matter abnormalities.

ORPHA:369897

Classification level: Disorder

Synonym(s):
- mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
ICD-10: E88.8
OMIM: 615471
UMLS: -
MeSH: -
GARD: -
MedDRA: -

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Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies

ORPHA:369897

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