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Microcephaly-cardiac defect-lung malsegmentation syndrome
Disease definition
Microcephaly - cardiac defect - lung malsegmentation syndrome is a very rare syndrome characterized by the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate.
ORPHA:2516
Classification level: DisorderSummary
Epidemiology
It has been described in three female sibs (including a fetus).
Clinical description
Dysmorphic features were not characteristic.
Genetic counseling
The condition seems to be hereditary, and transmitted as an autosomal recessive trait.
Prognosis
Prognosis is poor and all infants died in infancy.
Additional information
Further information on this disease
Patient-centred resources for this disease
Research activities on this disease
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