Syndromes with macrocephaly

autosomal recessive disease that occurs rarely and is characterized by excessive physical growth during the first 2 to 3 years of life

an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma

human disease

Human disease

acrocephalosyndactylia that has material basis in mutation in the GLI3 gene which results in abnormal development located in limb, located in head, located in face

a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas.

developmental malformation syndrome characterized by craniofacial abnormalities, congenital heart defects, and cerebellar brain malformations.

Human disease

syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome

human disease