Macrocephaly-developmental delay syndrome

Macrocephaly-developmental delay syndrome is a rare, intellectual disability syndrome characterized by macrocephaly, mild dysmorphic features (frontal bossing, long face, hooded eye lids with small, downslanting palpebral fissures, broad nasal bridge, and prominent chin), global neurodevelopmental delay, behavioral abnormalities (e.g. anxiety, stereotyped movements) and absence or generalized tonic-clonic seizures. Additional features reported in some patients include craniosynostosis, fifth finger clinodactyly, recurrent pneumonia, and hepatosplenomegally.

Also known as: intellectual disability, autosomal recessive type 41, mental retardation, autosomal recessive type 41, MRT41, intellectual disability, autosomal recessive 41, mental retardation, autosomal recessive 41

0 clinical trials for this condition and its sub-types, 0 tagged with Macrocephaly-developmental delay syndrome itself.