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The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 2516
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.
It has been described in three female sibs (including a fetus).
Dysmorphic features were not characteristic.
The condition seems to be hereditary, and transmitted as an autosomal recessive trait.
Prognosis is poor and all infants died in infancy.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
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