Synonyms for macrocephaly or Related words with macrocephaly
Examples of "macrocephaly"
may be pathological, but many people with abnormally large heads or large skulls are healthy. Pathologic
may be due to megalencephaly (enlarged brain), hydrocephalus (water on the brain), cranial hyperostosis (bone overgrowth), and other conditions. Pathologic
is called "syndromic" when it is associated with any other noteworthy condition, and "nonsyndromic" otherwise. Pathologic
can be caused by congenital anatomic abnormalities, genetic conditions, or by environmental events.
Babies with glutaric acidemia type 1 often are born with unusually large heads (
is amongst the earliest signs of GA1. It is thus important to investigate all cases of
of unknown origins for GCDH deficiency, given the importance of the early diagnosis of GA1.
A person with
does not necessarily indicate that megalencephaly is also present. Large skulls usually exhibit no neurodevelopment conditions at all, meaning most individuals with
is customarily diagnosed if head circumference is greater than two standard deviations (SDs) above the mean. Relative
occurs if the measure is less than two SDs above the mean, but is disproportionately above that when ethnicity and stature are considered. In research, cranial height or brain imaging is also used to determine intracranial volume more accurately.
Zori–Stalker–Williams syndrome, also known as pectus excavatum,
, short stature and dysplastic nails, is a rare autosomal dominant congenital disorder associated with a range of features such as pectus excavatum,
and dysplastic nails, familial short stature, developmental delay and distinctive facies. Further signs are known to be associated with this syndrome.
Watson syndrome is an autosomal dominant condition characterized by Lisch nodules of the ocular iris, axillary/inguinal freckling, pulmonary valvular stenosis, relative
, short stature, and neurofibromas.
Many genetic conditions are associated with
, including familial
related to the holgate gene, autism, "PTEN" mutations such as Cowden disease, neurofibromatosis type 1, and tuberous sclerosis; overgrowth syndromes such as Sotos syndrome (cerebral gigantism), Weaver syndrome, Simpson-Golabi-Behmel syndrome (bulldog syndrome), and
-capillary malformation (M-CMTC) syndrome; neurocardiofacial-cutaneous syndromes such as Noonan syndrome, Costello syndrome, Gorlin Syndrome, (also known as Basal Cell Nevus Syndrome) and cardiofaciocutaneous syndrome; Fragile X syndrome; leukodystrophies (brain white matter degeneration) such as Alexander disease, Canavan disease, and megalencephalic leukoencephalopathy with subcortical cysts; and glutaric aciduria type 1 and D-2-hydroxyglutaric aciduria.
is a condition in which the head is abnormally large; this includes the scalp, the cranial bone, and the contents of the cranium.
Those individuals that are classified with
, or general head overgrowth, are said to have megalencephaly at a rate of 10–30% of the time.
This disorder was recognized as a distinct syndrome in 1997 and named
-cutis marmorata telangiectasia congenita or M-CMTC. A new name,
-capillary malformation, abbreviated M-CM, was recommended in 2007. This new name was chosen to more accurately describe the skin markings associated with this disorder. In January 2012, a paper proposed new names for the syndrome: megalencephaly-capillary malformation or megalencephaly-capillary malformation-polymicrogyria with an abbreviation of MCAP.
Amongst 279 patients who had been reported to have GA1, 185 were symptomatic ("two thirds"); being symptomatic was seen as an indication of ""low treatment efficacy"". High risk screening, neonatal screening and a diagnosis of
were the ways to identify bearers of the "GCDH"' defective gene who weren't frankly symptomatic.
remains the main sign of GA1 for those who aren't related to GA1 in any way or benefit from no screening program. GA1 was considered as a "treatable disease".
Kim Peek, inspiration for the film "Rain Man" and renowned for his savant abilities, was born with agenesis of the corpus callosum, along with
and damage to the cerebellum.
is a "pivotal clinical sign" of many neurological diseases. Physicians and parents should be aware of the benefits of investigating for an underlying neurological disorder, particularly a neurometabolic one, in children with head circumferences in the highest percentiles.
Bannayan–Riley–Ruvalcaba syndrome (BRRS) is a rare overgrowth syndrome and hamartomatous disorder with occurrence of multiple subcutaneous lipomas,
and hemangiomas. The disease is inherited in an autosomal dominant manner.
Delays in development of some physical, psychological and behavioral skills; progressive enlargement of the head (
), seizures, spasticity, and in some cases also hydrocephalus, idiopathic intracranial hypertension, and dementia.
Evidence that Bunyamwera serogroup viruses in North America are associated with congenital defects such as
and/or microcephaly in humans suggests the possibility that Tensaw virus and other viruses of the family Bunyaviridae may have teratogenic potential in humans.
A 2008 study concluded that Peek probably had FG syndrome, a rare genetic syndrome linked to the X chromosome which causes physical anomalies such as hypotonia (low muscle tone) and
(abnormally large head).
The D2 form is rare, with symptoms including
, cardiomyopathy, mental retardation, hypotonia, and cortical blindness.It is caused by recessive mutations in "D2HGDH" (type I) or by dominant gain-of-function mutations in "IDH2" (type II).
At one end of the genetic spectrum, duplications of chromosomes have been found to be related to autism and
; at the other end, deletions of chromosomes have been found to be related to schizophrenia and microcephaly.
Loss-of-function "CUL4B" mutation events have been discovered in numerous patients with , which is characterized by aggressive outbursts, seizures, relative
, central obesity, hypogonadism, pes cavus and tremor. "CUL4B" mutations have also been associated with malformations of cortical development.
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