/macrocephaly-developmental delay syndrome

macrocephaly-developmental delay syndrome

Rare Disease

MONDO:0014289

Also Known As

intellectual disability, autosomal recessive type 41mental retardation, autosomal recessive type 41MRT41intellectual disability, autosomal recessive 41mental retardation, autosomal recessive 41

Definition

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.