familial macrocephaly are considered to have megalencephaly. Many people with abnormally large heads or large skulls are healthy, but macrocephaly may be...

Proteus syndrome Other names Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, Wiedemann syndrome Alex Green, a 7-year-old boy with Proteus...

distinct syndrome in 1997 and named macrocephaly-cutis marmorata telangiectasia congenita or M-CMTC. A new name, macrocephaly-capillary malformation, abbreviated...

aspects of the disorder: Macrosomia (excessive birth weight), Obesity, Macrocephaly (excessive head size) and Ocular abnormalities. It is unknown if it is...

(low muscle tone), and a characteristic facial appearance including macrocephaly (an abnormally large head). FG syndrome's major clinical features include...

most individuals with macrocephaly are healthy.[citation needed] Hemimegalencephaly is an extremely rare form of macrocephaly and is characterized by...

gene. It is characterized by hypotonia, intellectual disability, and macrocephaly. Children with JS may also have epilepsy or meet criteria for diagnosis...

multi-system disorder that also includes neurodevelopmental disorders such as macrocephaly. The incidence of Cowden's disease is about 1 in 200,000, making it quite...

(often to the detriment of other areas) is called urban primacy or urban macrocephaly. Urban primacy can be measured as the share of a country's population...

Para-sagittal MRI of the head in a patient with benign familial macrocephaly....

his legacy. Laurence Kim Peek was born in Salt Lake City, Utah, with macrocephaly, damage to the cerebellum, and agenesis of the corpus callosum, a condition...

large heads (macrocephaly). Macrocephaly is amongst the earliest signs of GA1. It is thus important to investigate all cases of macrocephaly of unknown...

2 cm for females with average size varying proportionally with height Macrocephaly can be an indicator of increased risk for some types of cancer in individuals...

CHD3 gene. It is characterized by impaired intellectual development, macrocephaly, dysarthria and apraxia of speech, and certain distinctive facial features...

Neuroimaging Para-sagittal MRI of the head in a patient with benign familial macrocephaly Purpose Indirectly (directly) image structure, function/pharmacology...

syndrome Macrocephaly cutis marmorata telangiectatica Macrocephaly dominant type Macrocephaly mental retardation facial dysmorphism Macrocephaly mesodermal...

Para-sagittal MRI of the head in a patient with benign familial macrocephaly...

involving the heart valves. Individuals with MPS VI may also experience macrocephaly, hydrocephalus, distinctive coarse facial features, macroglossia, dysostosis...

Associated abnormalities include the following: Body asymmetry (extremities; macrocephaly) Glaucoma Cutaneous atrophy Neurological anomalies Vascular anomalies...

axillary/inguinal freckling, pulmonary valvular stenosis, relative macrocephaly, short stature, and neurofibromas. Watson syndrome is allelic to NF1...

diagnosis if the child has abnormal physical signs such as microcephaly, macrocephaly, a change in head circumference, focal neurological signs, or epilepsy...

were various paintings or artifacts depicting children or adults with macrocephaly (large head) or clinical findings of hydrocephalus. The earliest scientific...

An MRI of a male's head showing benign familial macrocephaly (head circumference > 60 cm)...

Relationships have been found between autism, duplications of genes and macrocephaly on one side. On the other side, a relationship has been found between...

Cohen-Gibson syndrome is a disorder linked to overgrowth and is characterized by dysmorphic facial features and variable intellectual disability. Scoliosis...

symptoms in infants include lack of motor skills, weak muscle tone, and macrocephaly. It may also be accompanied by difficulties in feeding and swallowing...

achondroplasia is fairly straightforward. A combination of key clinical (that is, macrocephaly, short limbed-short stature with rhizomelia and redundant skin folds)...

autosomal recessive mutations in the DIS3L2 gene. PS is characterized by macrocephaly, neonatal macrosomia, nephromegaly, renal dysplasia, dysmorphic facial...

Limb CM + congenital non-progressive limb overgrowth Maffucci syndrome Macrocephaly - CM (M-CM / MCAP) Microcephaly - CM (MICCAP) CLOVES syndrome Proteus...

syndrome CLOVES syndrome Fragile X syndrome Klippel–Trénaunay syndrome Macrocephaly-capillary malformation Neurofibromatosis Proteus syndrome Simpson–Golabi–Behmel...