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  • To the best of our knowledge, no other similarly affected family has been presented in the literature.[ncbi.nlm.nih.gov]
  • In these patients, increased intracranial pressure may also be present.[ncbi.nlm.nih.gov]
  • Sanger sequencing confirmed the c.1584delG mutation as a de novo in the proband and that it was not present either in her parents, half-sister or half-brother.[ncbi.nlm.nih.gov]
  • Abstract We report on a sib pair of Indian origin presenting with intellectual disability, dysmorphism, and macrocephaly. Exome sequencing revealed a homozygous splice site HERC1 mutation in both probands.[ncbi.nlm.nih.gov]
  • Their most common presentation is macrocephaly, hydrocephalus, stillbirth, or diagnosis by pre- or postnatal imaging.[ncbi.nlm.nih.gov]
  • The aim was to analyse the patient's clinical development and to plan orthopaedic and surgical treatment, focused on detecting and correcting structural and/or functional maxillomandibular anomalies that are likely to worsen over time.[ncbi.nlm.nih.gov]
  • Since that time, there have been over 75 cases reported in the literature, though few are in the dermatology literature.[ncbi.nlm.nih.gov]
  • CONCLUSIONS: Use of a limited cranioplasty technique was associated with a hospitalization that was over 7 days shorter than has been reported in the literature for total cranial vault reductions and with a much lower shunt revision rate.[ncbi.nlm.nih.gov]
  • Head circumference, moreover, was over the 99.7th percentile ("extreme" macrocephaly) in 6/31 (19%) patients.[ncbi.nlm.nih.gov]
  • These patients underwent surgical treatment at The First Affiliated Hospital of Xiamen University over a period of 4 years from January 2007 to January 2011.[ncbi.nlm.nih.gov]
Low Set Ears
  • Facial features common to all patients include a high, broad forehead; a flat and broad nasal bridge; long, downslanted palpebral fissures and dysplastic, low-set ears. Likely associated features include macrocephaly and increased weight.[ncbi.nlm.nih.gov]
Behavior Problem
  • In this study whole exome sequencing revealed a de novo likely pathogenic variant in PAK3 gene in monozygotic twins presented with intellectual disability, speech delay, behavioral problems and macrocephaly.[ncbi.nlm.nih.gov]
  • Behavioral problems and a few episodes of seizures were reported in the brother. Whole exome sequencing carried out from the brother's DNA sample identified homozygous one-nucleotide frameshift duplication c.665dupA (p.Q222fs) in the KPTN gene.[ncbi.nlm.nih.gov]
  • These disorders often lead to epilepsy, developmental disabilities, and behavioral problems; specific disorders have associations with overgrowth or abnormalities in other tissues.[ncbi.nlm.nih.gov]
  • Sotos syndrome is associated with the major features of behavioral problems, congenital cardiac anomalies, neonatal jaundice, renal anomalies, scoliosis, and seizures.[ncbi.nlm.nih.gov]


  • […] unique constellation of features that have not yet been described in humans with PTEN germline mutations, some of which have not been described in the same individual, like severe hypoglycemia, growth hormone deficiency, Von Willebrand disease, and dyslipidemia[ncbi.nlm.nih.gov]
Occipital Encephalocele
  • We report the case of a male infant with Chiari malformation type I who presented with congenital hydrocephalus and occipital encephalocele that progressed to hydrocephalic macrocephaly with frontal skull defect, despite numerous cerebrospinal fluid diversion[ncbi.nlm.nih.gov]


  • Various surgical techniques of reduction cranioplasty for the treatment of these patients have been reported.[ncbi.nlm.nih.gov]
  • Orthopaedic treatment partially corrected the asymmetry and reduced the structural discrepancy, avoiding or at least simplifying surgical treatment on completion of growth.[ncbi.nlm.nih.gov]
  • There are even fewer cases of infants with long-standing hydrocephalus in whom macrocephaly progresses and is accompanied by skull defect due to malunion of suture lines despite long-term CSF diversion treatment.[ncbi.nlm.nih.gov]
  • In the current study, the authors demonstrate that macrocephaly is not associated with the development of these brain tumors or the need to institute treatment for clinical progression.[ncbi.nlm.nih.gov]
  • The management of newborns with extreme macrocephaly related to hydrocephalus can be difficult; balancing the treatment of severe cranial deformity with optimal hydrocephalus management can be complicated.[ncbi.nlm.nih.gov]


  • Massive congenital intracranial teratoma is an extremely rare neoplasm with a poor prognosis. They grow rapidly and cause extensive destruction in the brain. Herein we report a massive intracranial teratoma causing skull rupture.[ncbi.nlm.nih.gov]
  • Subependymal and subarachnoidal cysts may cause extraodinary displacements and compression of brain structures; nevertheless, the prognosis is rather optimistic, for the brain structure itself is generally not destroyed.[ncbi.nlm.nih.gov]
  • Prognosis For children with benign familial macrocephaly, the prognosis is excellent. These children usually do not have any complications and have normal intelligence. For other children with macrocephaly, the prognosis is dependent upon the cause.[healthofchildren.com]
  • An incorrect diagnosis can have serious consequences for the patient in terms of follow-up and prognosis, and for the family with regard to inheritance and recurrence risk.[tidsskriftet.no]
  • Prognosis Prognosis depends on the severity of symptoms. Early death, due to feeding difficulties, complex cardiac heart disease and arrhythmia, has been reported in rare occasions.[orpha.net]


  • These findings demonstrate the phenotypic heterogeneity of autism cases associated with macrocephaly and their genetic etiologies.[ncbi.nlm.nih.gov]
  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]
  • Macrocephaly-capillary malformation (M-CM) is a genetic syndrome of unknown etiology characterized by an enlarged head circumference and patchy, reticular capillary malformation.[ncbi.nlm.nih.gov]
  • These disorders can be divided into metabolic and developmental categories based on their molecular etiologies.[ncbi.nlm.nih.gov]
  • CONCLUSION: Children with macrocephaly, particularly males, are at a higher risk of neurodevelopmental disorders, rather than progressive etiologies, such as hydrocephalus and neurodegenerative disorders.[ncbi.nlm.nih.gov]


  • The epidemiology, perinatal risk factors, and major neurologic comorbidity of 42 children with hydrocephalus were studied in a community-based clinic for children with neurodevelopmental disabilities at the Institute for Child Development, Tel Aviv, Israel[pediatricneurologybriefs.com]
  • The UCLA-University of Utah epidemiologic survey of autism: Prenatal, perinatal and postnatal factors. Pediatrics , 86 , 514–519. Google Scholar Schopler, E., Reichler, R. J., & Renner, B. R. (1986).[link.springer.com]
  • ORPHA:137634 Synonym(s): - Prevalence: Inheritance: Autosomal dominant Age of onset: - ICD-10: Q87.3 OMIM: 613675 614192 UMLS: - MeSH: - GARD: - MedDRA: - Summary Epidemiology So far, it has been described in six families.[orpha.net]
  • Affiliations Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands.[nature.com]
Sex distribution
Age distribution


  • EEG-based endophenotypes could be useful to untangle the complexity of ASD, helping to establish anatomic or pathophysiologic subtypes of the disorder.[ncbi.nlm.nih.gov]
  • These findings identify a mechanism of altered connectivity that has potential relevance to the pathophysiology of macrocephaly/autism syndrome and autism spectrum disorders featuring dysregulated mTOR signalling.[ncbi.nlm.nih.gov]
  • Etiology and pathophysiology of autistic behavior: clues from two cases with an unusual variant of neuroaxonal dystrophy. J Child Neurol 2001 ; 16 : 809 –819 DeMeyer W. Microcephaly, micrencephaly, megalocephaly, and megalencephaly.[ajnr.org]
  • Yuri Milaneschi Experimental Therapeutics and Pathophysiology Branch, National Institute of Mental Health Intramural Research Program, National Institutes of Health, Bethesda, Maryland, USA.[nature.com]


  • Regular follow-up of the fetus may lead to early diagnosis of immature intracranial teratomas and prevent the mother from having further complications either due to intrauterine fetal death orpsychological trauma of giving birth to a heavily malformed[ncbi.nlm.nih.gov]
  • Her newborn screening results did not make it back in time to prevent the crisis, and no one at our local hospital was familiar with the disease. They did not know how to treat her.[ggc.org]
  • Prevention Macrocephaly is often present at birth or is a result of conditions that are present at birth. As of 2004 there was no known prevention.[healthofchildren.com]
  • This prevented the development of unsightly overlaps, which commonly occur when a skull is disproportionately large compared to the size of the underlying brain. The procedure took 45 minutes and the infant tolerated it well.[medicalxpress.com]
  • Hydrocephalus is caused by increased pressure in the brain that expands the skull and should be addressed early on to prevent any possible damage. Causes of increased brain size are complex and often require advanced genetic/metabolic testing.[medhelp.org]

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