In these patients, increased intracranial pressure may also be present. [ncbi.nlm.nih.gov]

• Poor Growth

  Subsequently, feeding difficulties with poor growth become more evident as the delayed milestones. Hypertonia, joint stiffness, and seizures develop rapidly, and most of the patients die in the first decade of life. [ncbi.nlm.nih.gov]

• Gingival Hypertrophy

  The presenting clinical features consist of progressive facial coarsening, gingival hypertrophy, severe scoliosis, sparse hair, cutis laxa, and joint hyperlaxity. [ 46 ] PMSE [ 42 ] is linked to homozygous 7-kilobase deletion in LYK5, which encodes STE20 [ncbi.nlm.nih.gov]

Various surgical techniques of reduction cranioplasty for the treatment of these patients have been reported. [ncbi.nlm.nih.gov]

Depends on the cause Treatment of macrocephaly depends on the cause. Sometimes, no treatment is necessary. If the cause is an abnormality, such as hydrocephalus, treatment, including surgery, may be necessary. NOTE: This is the Consumer Version. [msdmanuals.com]

Treatment Treatment Options: No treatment has been reported. [disorders.eyes.arizona.edu]

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]

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 The outcome and prognosis depends on the cause. The prognosis is quite favorable in children with benign familial macrocephaly. [emedicine.medscape.com]

Prognosis: Familial macrocephaly: normal neurological development. Secondary macrocephaly: depends on underlying condition. Unilateral or bilateral megalencephaly: developmental delay and intractable seizures. [fetalmedicine.org]

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]

Etiology The etiology of macrocephaly is diverse. [4] The most common cause is benign familial macrocephaly characterized by enlargement of the subarachnoid spaces and accounts for almost 50% of cases. Other causes are described below. [emedicine.medscape.com]

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]

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]

Epidemiology Macrocephaly is a relatively rare condition but has multiple etiologies, therefore the incidence and prevalence has not been documented by many studies. [emedicine.medscape.com]

Affiliations Department of Epidemiology, Erasmus MC, Rotterdam, the Netherlands. [dx.doi.org]

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]

Soriano AL, Russell RG, Johnson D, Lago R, Sechter I, Morris JG Jr: Pathophysiology of Citrobacter diversus neonatal meningitis: Comparative studies in an infant mouse model. Infect Immun 1991;59:1352–1358. [karger.com]

Pathophysiology Macrocephaly can result from enlargement of the skull bones or an increase in the volume of the intracranial structures like cerebrospinal fluid, blood, or the brain parenchyma itself (megalencephaly). [emedicine.medscape.com]

The pathophysiology of propofol infusion syndrome: a simple name for a complex syndrome. Intensive Care Med 2003;29:1417-25. 37. Rossetti AO, Milligan TA, Vulliemoz S, Michaelides C, Bertschi M, Lee JW. [e-jnc.org]

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]

When there is a significant fluid buildup in the brain, which is called hydrocephalus, the underlying cause is likely to require treatment to prevent further problems. [medicalnewstoday.com]