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Abnormally large head size
familial macrocephaly are considered to have megalencephaly. Many people with abnormally large heads or large skulls are healthy, but macrocephaly may be
Macrocephaly
Human genetic disorder
Proteus syndrome Other names Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome, Wiedemann syndrome Alex Green, a 7-year-old boy with Proteus
Proteus_syndrome
Disproportionately largest city of a country or region
(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
Primate_city
Medical condition
CHD3 gene. It is characterized by impaired intellectual development, macrocephaly, dysarthria and apraxia of speech, and certain distinctive facial features
Snijders Blok–Campeau syndrome
Snijders_Blok–Campeau_syndrome
Medical condition
distinct syndrome in 1997 and named macrocephaly-cutis marmorata telangiectasia congenita or M-CMTC. A new name, macrocephaly-capillary malformation, abbreviated
Macrocephaly-capillary malformation
Macrocephaly-capillary_malformation
Neurodegenerative disorder
symptoms in infants include lack of motor skills, weak muscle tone, and macrocephaly. It may also be accompanied by difficulties in feeding and swallowing
Spongy degeneration of the central nervous system
Spongy_degeneration_of_the_central_nervous_system
Rare genetic disease
(low muscle tone), and a characteristic facial appearance including macrocephaly (an abnormally large head). FG syndrome's major clinical features include
FG_syndrome
Medical condition
most individuals with macrocephaly are healthy.[citation needed] Hemimegalencephaly is an extremely rare form of macrocephaly and is characterized by
Megalencephaly
American savant (1951–2009)
He had two siblings: a brother and a sister. Kim was diagnosed with macrocephaly, damage to the cerebellum, and agenesis of the corpus callosum, a condition
Kim_Peek
Rare genetic disorder
aspects of the disorder: Macrosomia (excessive birth weight), Obesity, Macrocephaly (excessive head size) and Ocular abnormalities. It is unknown if it is
MOMO_syndrome
Familial syndrome causing hamartomas and cancers
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
Cowden_syndrome
serially examined. Presence of neurological abnormality or macrocephaly can suggest macrocephaly-capillary malformation syndrome. Hemihypertrophy-multiple
Diffuse capillary malformation with overgrowth
Diffuse_capillary_malformation_with_overgrowth
Rare disorder linked to overgrowth and is characterized by dysmorphic facial features
Cohen-Gibson syndrome is a disorder linked to overgrowth and is characterized by dysmorphic facial features and variable intellectual disability. Scoliosis
Cohen–Gibson_syndrome
Medical condition
large heads (macrocephaly). Macrocephaly is amongst the earliest signs of GA1. It is thus important to investigate all cases of macrocephaly of unknown
Glutaric_aciduria_type_1
Upper portion of the human body
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
Human_head
Overgrowth syndrome caused by DIS3L2 gene mutation
autosomal recessive mutations in the DIS3L2 gene. PS is characterized by macrocephaly, neonatal macrosomia, nephromegaly, renal dysplasia, dysmorphic facial
Perlman_syndrome
Abnormal increase in cerebrospinal fluid in the ventricles of the brain
were various paintings or artifacts depicting children or adults with macrocephaly (large head) or clinical findings of hydrocephalus. The earliest scientific
Hydrocephalus
List of medical conditions involving craniosynostosis
Brachycephaly Macrocephaly Char syndrome Childhood hypophosphatasia Dolichocephaly Chromosome 5p13 duplication syndrome Brachycephaly, turricephaly Macrocephaly Cloverleaf
List of conditions with craniosynostosis
List_of_conditions_with_craniosynostosis
Congenital malformation of the cerebellar vermis
Dandy–Walker malformation (DWM), also known as Dandy–Walker syndrome (DWS), is a rare congenital brain malformation in which the part joining the two hemispheres
Dandy–Walker_malformation
Rare neurodevelopmental disorder
shared developmental symptoms. Initial clinical findings may include macrocephaly, hypotonia, epilepsy, ophthalmologic abnormalities, and dysmorphic facial
Jordan's_syndrome
Protein-coding gene in the species Homo sapiens
haploinsufficiency is also associated with intellectual disability and macrocephaly, as are NFIA and NFIX. The NFIB gene is a part of the NFI gene complex
Nuclear_factor_1_B-type
Set of techniques to measure and visualize aspects of the nervous system
Neuroimaging Para-sagittal MRI of the head in a patient with benign familial macrocephaly Purpose Indirectly (directly) image structure, function/pharmacology
Neuroimaging
Application of physics in medicine or healthcare
Para-sagittal MRI of the head in a patient with benign familial macrocephaly.
Medical_physics
Scientific study of the nervous system
An MRI of a human head showing benign familial macrocephaly (head circumference > 60 cm)
Neuroscience
Branch of neuroscience
Para-sagittal MRI of the head in a patient with benign familial macrocephaly
Neuroanatomy
Medical condition
Associated abnormalities include the following: Body asymmetry (extremities; macrocephaly) Glaucoma Cutaneous atrophy Neurological anomalies Vascular anomalies
Cutis marmorata telangiectatica congenita
Cutis_marmorata_telangiectatica_congenita
Disorder that affects development of the limbs, head, and face
widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly), and a high, prominent forehead. Rarely, affected individuals may have
Greig cephalopolysyndactyly syndrome
Greig_cephalopolysyndactyly_syndrome
Medical condition
The signs of this disease are: Very frequent: Intellectual disability Macrocephaly Frequent: Abnormal facial shape Abnormality of speech Curly hair Seizure
Smith–Kingsmore_syndrome
Man with severe deformities (1862–1890)
Tibbles said Merrick showed the following signs of Proteus syndrome: "macrocephaly; hyperostosis of the large skull; hypertrophy of long bones; and thickened
Joseph_Merrick
Vascular anomaly
Limb CM + congenital non-progressive limb overgrowth Maffucci syndrome Macrocephaly - CM (M-CM / MCAP) Microcephaly - CM (MICCAP) CLOVES syndrome Proteus
Port-wine_stain
Genetic disease
Man (OMIM): Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails - 600399 - Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails
Zori–Stalker–Williams syndrome
Zori–Stalker–Williams_syndrome
Congenital disorder
Luscan–Lumish syndrome is a rare condition characterized by overgrowth, macrocephaly, obesity, type I Chiari malformation, and language delays. It has been
Luscan–Lumish_syndrome
Medical condition
Metspalu A, Õunap K (November 2014). "Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B
Coffin–Siris_syndrome
Human disease
Limb CM + congenital non-progressive limb overgrowth Maffucci syndrome Macrocephaly - CM (M-CM / MCAP) Microcephaly - CM (MICCAP) CLOVES syndrome Proteus
Cystic_hygroma
Form of body alteration
Egyptians are among those identified as often being naturally elongated, and macrocephaly may be a familial characteristic. For example, Rivero and Tschudi describe
Artificial cranial deformation
Artificial_cranial_deformation
Kyphosis Larsen syndrome Laurence–Moon syndrome Lissencephaly Lordosis Macrocephaly Marfan syndrome Megalencephaly Microcephaly Micromelia Microtia Moebius
List_of_congenital_disorders
Medical condition
Characteristics of this syndrome include agenesis of the corpus callosum, macrocephaly, hypertelorism, poor motor skills, intellectual disability, extra fingers
Acrocallosal_syndrome
Rare condition caused by a microdeletion on the short arm of chromosome 16
majority of medical challenges for adults with 16p11.2 deletion syndrome. Macrocephaly is slightly more prevalent in 16p11.2 deletion syndrome compared to the
16p11.2_deletion_syndrome
Medical condition
aspect of the size and development of the brain is related to autism (macrocephaly) and schizophrenia (microcephaly). It has been proposed that a deletion
1q21.1_deletion_syndrome
Delayed development in children
diagnosis if the child has abnormal physical signs such as microcephaly, macrocephaly, a change in head circumference, focal neurological signs, or epilepsy
Global_developmental_delay
Clinical sign for neurofibromatosis
such as Legius syndrome (cafe-au-lait spots, axillary freckling, and macrocephaly without Lisch nodules, neurofibromas or CNS tumors), and, homozygous
Crowe_sign
Birth defect of the development of the brain
abilities, was born with agenesis of the corpus callosum, along with macrocephaly and damage to the cerebellum. "ACC - What is agenesis of the corpus callosum
Agenesis of the corpus callosum
Agenesis_of_the_corpus_callosum
Medical condition
hamartomatous disorder with occurrence of multiple subcutaneous lipomas, macrocephaly and hemangiomas. The disease is inherited in an autosomal dominant manner
Bannayan–Riley–Ruvalcaba syndrome
Bannayan–Riley–Ruvalcaba_syndrome
Genetic condition, the most common form of dwarfism
achondroplasia is fairly straightforward. A combination of key clinical (that is, macrocephaly, short limbed-short stature with rhizomelia and redundant skin folds)
Achondroplasia
Genetic overgrowth disorder
large at birth and are often taller, heavier, and have larger skulls (macrocephaly) than is normal for their age. Signs of the disorder, which vary among
Sotos_syndrome
Medical condition
Common facial features include frontal bossing, hypertelorism, and macrocephaly. Around 18 and 29% of patients with 1q21.1 microduplications have congenital
1q21.1_duplication_syndrome
Region with a lack of blood flow due to vein malformation
Limb CM + congenital non-progressive limb overgrowth Maffucci syndrome Macrocephaly - CM (M-CM / MCAP) Microcephaly - CM (MICCAP) CLOVES syndrome Proteus
Cavernous_hemangioma
Medical condition
have a concave appearance, micrognathism (severely underdeveloped jaw), macrocephaly (enlarged head), thoracic hypoplasia (underdeveloped chest), enlarged
Fibrochondrogenesis
Medical condition
bossing, hypertelorism, mandibular prognathism, cleft lip or palate, and macrocephaly. Bilateral ovarian fibromas 10% develop cardiac fibromas ocular abnormalities:
Nevoid basal-cell carcinoma syndrome
Nevoid_basal-cell_carcinoma_syndrome
Medical condition
characterized by intellectual disabilities, psychomotor developmental delays, macrocephaly, and Parkinson's disease which starts before the age of 45 (early onset
Early-onset parkinsonism-intellectual disability syndrome
Early-onset_parkinsonism-intellectual_disability_syndrome
Rare genetic overgrowth disorder
which may include several, but not all, of the following features: Macrocephaly Large bifrontal diameter Flattened occiput Long philtrum Retrognathia
Weaver_syndrome
syndrome Macrocephaly cutis marmorata telangiectatica Macrocephaly dominant type Macrocephaly mental retardation facial dysmorphism Macrocephaly mesodermal
List_of_diseases_(M)
Medical condition
leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism". American Journal of Human Genetics
Megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic_leukoencephalopathy_with_subcortical_cysts
number of developmental delays and neurodevelopment disorders such as macrocephaly. Additionally, one study found the level of C12orf66 expression is down-regulated
KICSTOR_subunit_2
Male genetic disorder in which the subject has abnormally large testicles
signs include protruding ears, long face, bulging jaw and forehead, macrocephaly, mid-facial hypoplasia, and a high arched palate. Even though FXS affects
Macroorchidism
Rare genetic disorder
Beck–Fahrner syndrome, also known as BEFAHRS and TET3 deficiency, is an ultra-rare genetic disorder caused by pathogenic variants of the TET3 gene. The
Beck–Fahrner_syndrome
Protein-coding gene in the species Homo sapiens
disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy
NDUFAF2
Medical condition
roof of the mouth), with crowding and misalignment of the upper teeth; macrocephaly (enlarged skull) with a prominent forehead, hypernasal speech (voice)
Lujan–Fryns_syndrome
Field of study
Para-sagittal MRI of the head in a patient with benign familial macrocephaly
Epigenetics of neurodegenerative diseases
Epigenetics_of_neurodegenerative_diseases
Protein-coding gene in humans
syndrome, a condition associated with intellectual disability, autism, macrocephaly, hypotonia, functional gastrointestinal abnormalities and epilepsy. GRCh38:
KMT2E
French royal; grandson of Louis XIV (1700–1760)
physically, as he was very short, had a bilious complexion and suffered from macrocephaly. He was intelligent and well-educated but had an extremely ferocious
Charles de Bourbon, Count of Charolais
Charles_de_Bourbon,_Count_of_Charolais
Mammalian protein found in Homo sapiens
"A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome"
OFD1
Protein-coding gene in the species Homo sapiens
autosomal recessive metabolic disorder. Symptoms for this disease include: macrocephaly, acute encephalitis-like crises, spasticity, dystonia, choreoathetosis
Glutaryl-CoA_dehydrogenase
Protein-coding gene in humans
the brain this upregulation can cause brain overgrowth also known as macrocephaly. Some studies have determined the role of CHD8 in autism spectrum disorder
CHD8
Medical condition
names Familial scaphocephaly syndrome, McGillivray type, Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome This condition is
McGillivray_syndrome
Lysosomal storage disease
involving the heart valves. Individuals with MPS VI may also experience macrocephaly, hydrocephalus, distinctive coarse facial features, macroglossia, dysostosis
Maroteaux–Lamy_syndrome
Condition in which the head is small due to an underdeveloped brain
Relationships have been found between autism, duplications of genes and macrocephaly on one side. On the other side, a relationship has been found between
Microcephaly
Abnormal connection between arteries and veins, bypassing the capillaries
the lesion and the draining veins. Pediatric patients Heart failure Macrocephaly Prominent scalp veins Pulmonary arteriovenous malformations are abnormal
Arteriovenous_malformation
Medical condition
the axillary and inguinal skin fold Lipomas, developing in adulthood Macrocephaly Learning disabilities Attention deficit hyperactivity disorder Developmental
Legius_syndrome
Birth defect that affects the ears
and behavioral abnormalities Intellectual developmental disorder with macrocephaly, seizures, and speech delay Intellectual disability, autosomal dominant
Microtia
Protein-coding gene in the species Homo sapiens
severe mental retardation, psychomotor retardation, cerebellar ataxia, macrocephaly, or epilepsy. L2HGDH has a role in mediating differentiation in T-cells
L2HGDH
Congenital genetic disorder which causes oligodactyly and micrognathia
Cryptorchidism High-arched palate Nystagmus Microglossia Microdontia Macrocephaly Cleft palate Other oral anomalies Buttien-Fryns syndrome is caused by
Buttien-Fryns_syndrome
Fictional DC Comics character
teeth. In Secret Six #6 (December 2006), Tetch claims to suffer from macrocephaly. After the real Jervis Tetch/Mad Hatter had been sent to Arkham Asylum
Mad_Hatter_(DC_Comics)
Genetic disorder
is estimated to be <1/1,000,000. Short stature Asthenic body habitus Macrocephaly Brachycephaly Prominent supraorbital ridges Reduced muscle mass Impaired
Wu_syndrome
Rare genetic disorder
O'Donnell-Luria–Rodan syndrome is an ultra-rare genetic disorder caused by pathogenic variants of the KMT2E gene. The clinical features generally include
O'Donnell-Luria–Rodan syndrome
O'Donnell-Luria–Rodan_syndrome
Topics referred to by the same term
Danielli Furton, human rare genetic disorder formed by Macrosomia, Obesity, Macrocephaly and Ocular abnormalities Davson–Danielli model, a model of the plasma
Danielli_(disambiguation)
Autism associated with another medical condition
SCN2A-related autism, NF1 mutation, tuberous sclerosis, PTEN-associated macrocephaly syndrome, some males with fragile X syndrome) Syndromes caused by CNVs
Syndromic_autism
associated with autism, schizophrenia, cognitive disability, microcephaly, macrocephaly, congenital heart disease, congenital kidney and urinary tract anomalies
NBPF8
Protein-coding gene in humans
a neurodevelopmental syndrome (Snijders Blok-Campeau syndrome) with macrocephaly and impaired speech and language. CHD3 has been shown to interact with:
CHD3
Archaeological culture
most important by far, making this the most ancient known case of urban macrocephaly, since its hinterland seems to have reinforced Uruk itself to the detriment
Uruk_period
Medical condition
Limb CM + congenital non-progressive limb overgrowth Maffucci syndrome Macrocephaly - CM (M-CM / MCAP) Microcephaly - CM (MICCAP) CLOVES syndrome Proteus
Klippel–Trénaunay_syndrome
All Latin and Greek roots beginning with G
encephalitis, encephalogram, encephalopathy, holoprosencephaly, hydrocephalus, macrocephaly, mesaticephalic, mesencephalic, mesocephalic, metencephalon, microcephaly
List of Greek and Latin roots in English/A–G
List_of_Greek_and_Latin_roots_in_English/A–G
Medical condition
made using six criteria: SGA birth, postnatal growth failure, relative macrocephaly at birth, prominent forehead, body asymmetry, and feeding difficulties
Silver–Russell_syndrome
Brain malformation in which the lateral ventricles are enlarged
of colpocephaly is described in literature which is associated with macrocephaly instead of microcephaly. Increased intracranial pressure was also found
Colpocephaly
Genetic condition involving hearing loss and depigmentation
(coloboma), small eyes (microphthalmia), hardened bones (osteopetrosis), macrocephaly, albinism and deafness. One study documented a rare case of a child with
Waardenburg_syndrome
Overgrowth syndrome caused by DNMT3A gene mutation
Tatton-Brown–Rahman syndrome (TBRS) is a rare overgrowth and intellectual disability syndrome caused by autosomal dominant mutations in the DNMT3A gene
Tatton-Brown–Rahman_syndrome
Cephalic disorder involving cysts or cavities in the brain
symptoms that involve sudden muscle spasms and loss of consciousness Macrocephaly – condition where head circumference is larger compared to other children
Porencephaly
Group of rare genetic disorders involving tissue hypertrophy
syndrome CLOVES syndrome Fragile X syndrome Klippel–Trénaunay syndrome Macrocephaly-capillary malformation Neurofibromatosis Proteus syndrome Simpson–Golabi–Behmel
Overgrowth_syndrome
Rare genetic disorder of the white matter of the brain
psychological and behavioral skills; progressive enlargement of the head (macrocephaly), seizures, spasticity, and in some cases also hydrocephalus, idiopathic
Alexander_disease
Morphological phenomenon
low-set ears, single transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue. While MPAs may have a genetic basis,
Minor_physical_anomalies
Mass of cells which cannot spread throughout the body
congenital disorder characterized by hamartomatous intestinal polyposis, macrocephaly, lipomatosis, hemangiomatosis and glans penis macules. Proteus syndrome
Benign_tumor
Medical condition
bones which resemble a dumbbell, hypoplastic and flattening vertebrae, macrocephaly, dolichocephaly, toenail hypoplasia, flattening of the malar prominence
Schneckenbecken_dysplasia
Medical condition
together), hydrocephalus associated with HSAS results in progressive macrocephaly (abnormal enlargement of the skull) due to markedly increased intracranial
L1_syndrome
Rare genetic anomaly in humans
facial phenotype, albeit a subtle one not usually obvious in daily life. Macrocephaly is common, along with high arched eyebrows, flattening of the malar region
17q12_microdeletion_syndrome
Rare disease of abnormal tissue growth
syndrome CLOVES syndrome Macrodactyly Facial infiltrating lipomatosis Macrocephaly-capillary malformation Dysplastic megalencephaly Klippel–Trénaunay syndrome
PIK3CA-related overgrowth spectrum
PIK3CA-related_overgrowth_spectrum
Swedish psychiatrist (born 1950)
analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly". BMC Med. Genet. 8: 68. doi:10.1186/1471-2350-8-68. PMC 2248565. PMID 18001468
Christopher_Gillberg
Protein-coding gene in the species Homo sapiens
leukoencephalopathy with subcortical cysts, benign familial macrocephaly, and macrocephaly with retardation and autism". American Journal of Human Genetics
HEPACAM
Group of congenital brain or skull defects
(Q04.6) Schizencephaly (Q04.6) Acephaly (Q00.0) Exencephaly (Q00.0) Macrocephaly (Q75.3) Micrencephaly (Q02) Otocephaly (Q18.2) Craniosynostosis (Q75
Cephalic_disorder
Medical condition
cranial sclerosis (that is, the hardening of bones in the face and head), macrocephaly (abnormally large head), and cleft palate. Developmental delay, hearing
Osteopathia striata with cranial sclerosis
Osteopathia_striata_with_cranial_sclerosis
Brazilian Venerable (1955–1964)
miracle attributed to Santana was Vítor da Silva Leitão's recovery from macrocephaly. According to the child's family, they received a copy of Santana's death
Nelson_Santana
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