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Differential Diagnosis For Macrocephaly/Large head


List of current finding(s):

Infectious Disorders (Specific Agent)
Syphilis, congenital
Syphilis, congenital, late
Infected organ, Abscesses
Brain abscess
Neoplastic Disorders
Brain tumor
Brain, ependymoma
Choroid Plexus Carcinoma
Choroid plexus, papilloma
Metabolic, Storage Disorders
Hurler's mucopolysaccharidosis syndrome
Tay-Sachs disease
Gangliosidosis, generalized (GM1)
Glutaric aciduria/Acidemia
Glutaric aciduria/type II
Hunter's mucopolysaccharidosis syndrome
Maple syrup urine disease
Morquio's mucopolysaccharidosis synd.
Sandhoff disease
Biochemical Disorders
Deficiency Disorders
Rickets (vitamin D deficiency)
Rickets/X-linked hypophosphatemic
Congenital, Developmental Disorders
Hydrocephalus, obstructive
Aqueductal stenosis
Cretinism, goitrous sporadic
Hydrocephalus, communicating
Kenny-Caffey syndrome/KCS (1q42-q43)
Alexander disease
Arnold-Chiari syndrome
Dandy-Walker anomaly/syndrome
Cerebral gigantism of childhood (Sotos)
Robinow dwarfing syndrome/mesomelic dys
Rubinstein-Taybi syndrome
Velocardiofacial (22q gene) syndrome
Fetal CVA disorder
Vein of Galen/AVM congenital
Weaver syndrome (Marshall-Smith)
Hereditary, Familial, Genetic Disorders
Osteopetrosis (Albers-Schonberg)
Sickle cell/thalassemia disease
Thalassemia major
Sickle cell anemia
Basal cell nevus syndrome (Gorlin)
Fragile X syndrome/X-linked retardation
Osteogenesis imperfecta
Tuberous Sclerosis
Canavan disease
Hyperphosphatasia, hereditary
Incontinentia pigmenti/hereditary
Klipple-Feil syndrome
Leukodystrophy, Krabbe
Acrocallosal syndrome (ACS)
Adducted thumbs-Mental retardation syndrome
Familial Vitamin D dependent Rickets
Neuhauser Syndrome
Usage, Degenerative, Necrosis, Age Related Disorders
Acro-osteolysis/Hadju-Cheney Syndrome
Relational, Mental, Psychiatric Disorders
Autism/Autistic child
Anatomic, Foreign Body, Structural Disorders
Intraventricular brain hemorrhage
Newborn intracranial hemorrhage
Intracranial mass effect
Middle fossa mass
Cerebellar mass lesion
Arteriosclerotic, Vascular, Venous Disorders
Remote subarachnoid hemorrhage
Vegetative, Autonomic, Endocrine Disorders
Acromegaly (Gigantism)
Gigantism, pituitary
Hypothyroidism, juvenile
Hydrocephalus Syndrome
Reference to Organ System
Paget's disease (osteitis deformans)
Osteopathia striata with cranial stenosis
frontal hyperostosis, HEAD ENLARGEMENT, hyperostosis frontal, Hyperostosis of skull, Hyperostosis of skull (disorder), hyperostosis skull, LARGE HEAD, Large head (disorder), Large skull, Skull enlargement, Skull hyperostosis

Macrocephaly is when the head circumference is above +2SD.


External Links Related to Macrocephaly/Large head
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)