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Longer titles found: Macrocephaly-capillary malformation (view)

searching for Macrocephaly 41 found (173 total)

Proteus syndrome (1,926 words) [view diff] exact match in snippet view article find links to article

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

Primate city (2,634 words) [view diff] exact match in snippet view article find links to article

(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

Cardiofaciocutaneous syndrome (525 words) [view diff] exact match in snippet view article find links to article

malformations of the craniofacial area including an unusually large head (macrocephaly), prominent forehead, and abnormal narrowing of both sides of the forehead

Crowe sign (284 words) [view diff] exact match in snippet view article find links to article

such as Legius syndrome (cafe-au-lait spots, axillary freckling, and macrocephaly without Lisch nodules, neurofibromas or CNS tumors), and, homozygous

HERC1 (1,525 words) [view diff] exact match in snippet view article find links to article

dysmorphism, macrocephaly, epilepsy, motor development delay, cerebellar atrophy, and intellectual disability. Facial dysmorphism, macrocephaly, and intellectual

Cohen–Gibson syndrome (190 words) [view diff] no match in snippet view article find links to article

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

List of conditions with craniosynostosis (2,779 words) [view diff] exact match in snippet view article find links to article

Brachycephaly Macrocephaly Char syndrome Childhood hypophosphatasia Dolichocephaly Chromosome 5p13 duplication syndrome Brachycephaly, turricephaly Macrocephaly Cloverleaf

CHD3 (1,415 words) [view diff] exact match in snippet view article find links to article

a neurodevelopmental syndrome (Snijders Blok-Campeau syndrome) with macrocephaly and impaired speech and language. CHD3 has been shown to interact with:

Coffin–Siris syndrome (724 words) [view diff] exact match in snippet view article find links to article

Metspalu A, Õunap K (November 2014). "Coffin-Siris Syndrome with obesity, macrocephaly, hepatomegaly and hyperinsulinism caused by a mutation in the ARID1B

Olduvai domain (3,553 words) [view diff] exact match in snippet view article find links to article

correlation between copy number and brain size in both disease (micro/macrocephaly) and non-disease populations. In addition, in primates there is a significant

List of diseases (G) (846 words) [view diff] exact match in snippet view article

advanced bone age hoarse cry Gigantism partial, nevi, hemihypertrophy, macrocephaly Gigantism Gilbert's syndrome Gilles de la Tourette's syndrome Gingival

OFD1 (923 words) [view diff] exact match in snippet view article find links to article

"A novel X-linked recessive mental retardation syndrome comprising macrocephaly and ciliary dysfunction is allelic to oral-facial-digital type I syndrome"

C12orf66 (1,313 words) [view diff] exact match in snippet view article find links to article

number of developmental delays and neurodevelopment disorders such as macrocephaly. Additionally, one study found the level of C12orf66 expression is down-regulated

List of diseases (O) (818 words) [view diff] exact match in snippet view article

Osteopetrosis, mild autosomal recessive form Osteopoikilosis Osteoporosis macrocephaly mental retardation blindness Osteoporosis oculocutaneous hypopigmentation

Ornithine decarboxylase (2,082 words) [view diff] exact match in snippet view article find links to article

neurometabolic disorder characterized by global developmental delay, alopecia, macrocephaly, dysmorphic features, and behavioral abnormalities. BABS is typically

List of diseases (F) (924 words) [view diff] exact match in snippet view article

Facial clefting corpus callosum agenesis Facial cleft Facial dysmorphism macrocephaly myopia Dandy–Walker type Facial dysmorphism shawl scrotum joint laxity

Medical physics (2,695 words) [view diff] exact match in snippet view article find links to article

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

Jessie Jacobsen (580 words) [view diff] exact match in snippet view article find links to article

Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. American journal of human genetics, 104 (3)10.1016/j

Cranial ultrasound (890 words) [view diff] exact match in snippet view article find links to article

suggests central nervous system disorder such as seizures, microcephaly, macrocephaly, hypotonia, and unexplained poor feeding at term. Most neonatal units

List of diseases (D) (1,155 words) [view diff] exact match in snippet view article

disease, and seizures Dandy–Walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy Dandy–Walker syndrome Daneman–Davy–Mancer

Choroid plexus tumor (1,786 words) [view diff] exact match in snippet view article find links to article

other prevalent locations, according to the anatomical characteristics. Macrocephaly, splayed cranial sutures, fontanel widening/bulging, and forced downward

Cerebral organoid (6,580 words) [view diff] exact match in snippet view article find links to article

derived from macrocephaly ASD patients. These cerebral organoids were found to reflect characteristics typical of the ASD-related macrocephaly phenotype

NDUFS6 (971 words) [view diff] exact match in snippet view article find links to article

disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic

Wendy Chung (3,482 words) [view diff] exact match in snippet view article find links to article

missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism". Neurogenetics. 17 (1): 43–49. doi:10.1007/s10048-015-0466-9

Osteochondrodysplasia (2,844 words) [view diff] exact match in snippet view article find links to article

apparent at birth. likewise, craniofacial abnormalities in the form of macrocephaly and mid-face hypoplasia are present at birth. The previous clinical findings

McGillivray syndrome (1,341 words) [view diff] exact match in snippet view article find links to article

names Familial scaphocephaly syndrome, McGillivray type, Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome This condition is

NDUFS7 (1,357 words) [view diff] exact match in snippet view article find links to article

disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, non-specific encephalopathy, cardiomyopathy

NDUFS3 (1,704 words) [view diff] exact match in snippet view article find links to article

disease to adult-onset neurodegenerative disorders. Phenotypes include macrocephaly with progressive leukodystrophy, nonspecific encephalopathy, hypertrophic

Chudley–Mccullough syndrome (1,393 words) [view diff] exact match in snippet view article find links to article

to non-consanguineous healthy parents. Both had hydrocephalus-induced macrocephaly, hearing loss, brain structure abnormalities, developmental delays, and

CHD8 (1,606 words) [view diff] exact match in snippet view article find links to article

the brain this upregulation can cause brain overgrowth also known as macrocephaly Some studies have determined the role of CHD8 in autism spectrum disorder

Succinic semialdehyde dehydrogenase deficiency (3,995 words) [view diff] exact match in snippet view article find links to article

X-ray computed tomography abnormalities Oculomotor apraxia Microcephaly Macrocephaly Hyperreflexia Somnolence Choreoathetosis Myopathy SSADH deficiency is

Eric Courchesne (1,428 words) [view diff] exact match in snippet view article find links to article

2010;133(Pt 12):3745-3754. Klein S, Sharifi-Hannauer P, Martinez-Agosto JA. Macrocephaly as a clinical indicator of genetic subtypes in autism. Autism Res. Feb

Heritability of autism (10,803 words) [view diff] exact match in snippet view article find links to article

phenotypes, the 16p11.2 deletions / duplications have been associated with macrocephaly / microcephaly, body weight regulation, and the duplication in particular

Estrogen and neurodegenerative diseases (2,223 words) [view diff] exact match in snippet view article find links to article

Parasagittal MRI of human head in patient with benign familial macrocephaly prior to brain injury (ANIMATED)

Uruk period (16,893 words) [view diff] exact match in snippet view article find links to article

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

ZTTK syndrome (2,954 words) [view diff] exact match in snippet view article find links to article

receptive language skills are shown to be delayed in developmental age. Macrocephaly and brain white matter abnormalities have also been observed. Seizures

Christopher Gillberg (6,954 words) [view diff] exact match in snippet view article find links to article

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

List of OMIM disorder codes (18,877 words) [view diff] exact match in snippet view article find links to article

Machado–Joseph disease; 109150; ATXN3 Macrocephaly, alopecia, cutis laxa, and scoliosis; 613075; RIN2 Macrocephaly/autism syndrome; 605309; PTEN Macrocytic

Spanish Armed Forces during the period of Francoism (4,274 words) [view diff] exact match in snippet view article find links to article

22% if the budgets of the security forces were included. By 1970 the macrocephaly of officers continued: out of 289,000 members of the armed forces (not

Syndromic autism (1,194 words) [view diff] exact match in snippet view article find links to article

caused by mutations in single genes (e.g.: NF1, TSC, PTEN-associated macrocephaly syndrome, some males with FXS) Syndromes caused by CNVs (e.g.: microdeletion

Epigenetics of neurodegenerative diseases (13,392 words) [view diff] exact match in snippet view article find links to article

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