Macrocephaly: Causes & Reasons

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Possible Causes for Macrocephaly

Mucopolysaccharidosis Type 2

Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly). [secure.ssa.gov]

Macrocephaly develops during infancy and infants initially grow at normal or above average rates. [orpha.net]

[…] joints; • Leaky heart valves, umbilical or inguinal hernia; • Carpal tunnel syndrome; • Buildup of cerebrospinal fluid in the brain (hydrocephalus); and • Enlarged head (macrocephaly [secure.ssa.gov]

Achondroplasia

The diagnosis of achondroplasia is based on typical clinical and radiological features including short stature, macrocephaly with frontal bossing, midface hypoplasia and rhizomelic [ncbi.nlm.nih.gov]

The clinical and radiological features of achondroplasia can easily be identified; they include disproportionate short stature with rhizomelic shortening, macrocephaly with [ncbi.nlm.nih.gov]

These clinical findings include: shortened limbs especially of upper arms and legs, macrocephaly, abnormally shaped skull, flat face and abnormal maxilla. [symptoma.com]

Hypochondroplasia

Although similar in phenotype to the patients without the mutation, they showed in addition relative macrocephaly. [ncbi.nlm.nih.gov]

Prenatal sonographic examinations performed at 32 and 35 weeks' gestation revealed a rhizomelic shortness of the long bones (femur and humerus) with macrocephaly. [ncbi.nlm.nih.gov]

Abstract Achondroplasia (ACH) is a frequent condition of unknown origin characterized by short-limbed dwarfism and macrocephaly. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 1

Symptoms include, macrocephaly, excessive accumulation of fluid in the brain, hepatosplenomegaly, sleep apnea, cornea clouding, spinal cord compression and cognitive impairment [raredr.com]

MPS IH is the most severe and has an early onset consisting of skeletal deformities, coarse facial features, hepatosplenomegaly, macrocephaly, cardiomyopathy, hearing loss [neurology.testcatalog.org]

Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during [icd10data.com]

Hemimegalencephaly

All three have significant developmental delay and demonstrate other manifestations of the condition: macrocephaly in two, contralateral hemiparesis in one and one boy has [semanticscholar.org]

We present a 22-week-old fetus with macrocephaly depending on HMC and emphasize the possibility of an early ultrasound diagnosis, the correlation in the diagnosis between [ncbi.nlm.nih.gov]

He later showed macrocephaly, developmental delay, athetotic quadriplegic cerebral palsy, and neuromuscular scoliosis. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis Type 6

[symptoma.com] Macrocephaly Macrocephaly and sternal abnormalities can be present at birth, and inguinal/umbilical hernias are common. [symptoma.com]

Macrocephaly and sternal abnormalities can be present at birth, and inguinal/umbilical hernias are common. [egl-eurofins.com]

The features of MPS VI include macrocephaly, hydrocephalus and macroglossia. [ivami.com]

Mucopolysaccharidosis

The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with [ncbi.nlm.nih.gov]

Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d. [icd9data.com]

Individuals with MPS I may have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), heart valve abnormalities, distinctive-looking facial features [youtube.com]

Mucopolysaccharidosis Type 7

The symptoms include: in the head, neck, and face: coarse (Hurler-like) facies and macrocephaly, frontal prominence, premature closure of sagittal lambdoid sutures, and J-shaped [en.wikipedia.org]

The features of MPS VII include a large head ( macrocephaly ), a buildup of fluid in the brain (hydrocephalus), distinctive-looking facial features that are described as " [ghr.nlm.nih.gov]

The typical features appear at about the age of 12 years, including macrocephaly and coarse facies, and restriction of joint mobility with deformities becomes apparent at [contempclindent.org]

CINCA Syndrome

Craniofacial abnormalities include macrocephaly with frontal bossing, saddle-back nose, and delayed closure of the anterior fontanel. [cags.org.ae]

Other findings that have been reported include macrocephaly (95%), large fontanelle, prominent forehead, flattening of the nasal bridge (saddleback nose), short and thick [en.wikipedia.org]

Obstructive Hydrocephalus

Progressive macrocephaly prompted an MRI confirming triventricular hydrocephalus secondary to aqueductal stenosis. [ncbi.nlm.nih.gov]

Serial enlargement of the lateral ventricles >1.5 mm/week and fetal macrocephaly were documented. [ncbi.nlm.nih.gov]

Before the bony sutures of the skull have fused in a child, hydrocephalus may present as progressive and abnormal enlargement of the head (macrocephaly). [casemed.case.edu]

Mucopolysaccharidosis Type 3

Individuals with MPS III typically have mildly "coarse" facial features, a large head ( macrocephaly ), a slightly enlarged liver (mild hepatomegaly), and a soft out-pouching [ghr.nlm.nih.gov]

Other forms of MPS VII are less severe and present during early childhood and are characterized by the following signs and symptoms: Macrocephaly and hydrocephalus Distinctive [centogene.com]

Affected children may also have an abnormally large head (macrocephaly), a short neck and broad chest, delayed tooth eruption, progressive hearing loss, and enlargement of [rarediseases.org]

X-linked Mental Retardation Type Cabezas

Cachexia Wasting syndrome 0004326 Decreased testicular size Small testes Small testis [ more ] 0008734 High palate Elevated palate Increased palatal height [ more ] 0000218 Macrocephaly [rarediseases.info.nih.gov]

Increased size of lower jaw Large lower jaw Prominent chin Prominent lower jaw [ more ] 0000303 Micropenis Short penis Small penis [ more ] 0000054 Mood swings 0000720 Relative macrocephaly [rarediseases.info.nih.gov]

Infantile Cortical Hyperostosis

Fontaine Lagardere Syndrome Larsen Syndromes + Leri-Weill dyschondrosteosis Lethal Chondrodysplasia with Long Bone Angulation and Mixed Bone Density Lowry Wood Syndrome Macrocephaly [rgd.mcw.edu]

[…] scarification Purpose(s) Part Four: Congenital anomalies Congenital skeletal anomolies Skull malformations Craniosynostoses Complex craniofacial deformities Anencephaly Microcephaly Macrocephaly [corp.credoreference.com]

Gigantism

Abstract We report on a neonate presenting with polyhydramnios; macrosomia; macrocephaly; visceromegaly including bilateral nephromegaly, hepatomegaly, cardiomegaly; thymus [ncbi.nlm.nih.gov]

Patients present with accelerated linear growth and macrocephaly with a lag in weight gain. [visualdx.com]

His growth-hormone excess manifested as tall stature, coarse facial features, and macrocephaly. [emedicine.medscape.com]

Waisman Syndrome

Li J, et al. (2017) Yes - 10 Support Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly. [gene.sfari.org]

Source:http://linkedlifedata.com/resource/umls/id/C0796195 JABL: A syndrome of macrocephaly, persistent frontal lobe reflexes, cogwheel rigidity, postural changes, parkinsonian [linkedlifedata.com]

MRX72 patients can manifest autism spectrum disorder, seizures and macrocephaly as additional features. {ECO:0000269 PubMed:20159109}. [genecards.org]

Alexander Disease

It is characterized clinically by spasticity, seizures, dementia, loss of developmental milestones, and macrocephaly. [ncbi.nlm.nih.gov]

Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay, macrocephaly, and characteristic neuroimaging abnormalities predominantly [ncbi.nlm.nih.gov]

Alexander disease is a leukoencephalopathy that usually presents during infancy with developmental delay, macrocephaly and seizures. [ncbi.nlm.nih.gov]

Beta Thalassemia

Ann Hematol. 2018 May;97(5):899-904. doi: 10.1007/s00277-018-3251-7. Epub 2018 Feb 9. Author information 1 First Department of Neurology, University General Hospital of Thessaloniki AHEPA, St.Kiriakidis 1, P.O, 546 36, Thessaloniki, Greece. pnemtsas@med.auth.gr. 2 First Department of Neurology, University General Hospital[…] [ncbi.nlm.nih.gov]

Legius Syndrome

Multiple cafe-au-lait spots and macrocephaly are present. LS is caused by germline loss-of-function SPRED1 mutations. [malacards.org]

Autosomal dominant disorder Legius syndrome (NF1- like syndrome) shows phenotype features that overlap with neurofibromatosis type 1 (NF1), such as CALMs, freckling, macrocephaly [ncbi.nlm.nih.gov]

2007, patients with clinical signs and symptoms similar to neurofibromatosis type 1 (NF1), such as café-au-lait spots, freckle-like spots in the armpits and the groin area, macrocephaly [medical-genetics.de]

Autosomal Dominant Prognathism

Affiliated tissues include skin and eye, and related phenotypes are macrocephaly and obesity Description from OMIM: 606772 Human phenotypes related to Mental Retardation, [malacards.org]

It is characterized by overgrowth with advanced bone age, macrocephaly, characteristic facial appearance, and learning diff… Publisher Full Text New Search Next [unboundmedicine.com]

Ehlers-Danlos Syndrome, Type VII, Autosomal Recessive Feingold Syndrome 1 Fetal Hydantoin Syndrome Fibromatosis, Gingival, With Distinctive Facies Fountain Syndrome Fryns Macrocephaly [familydiagnosis.com]

Fitzsimmons-McLachlan-Gilbert Syndrome

Palmoplantaris Striata 2 Keratosis Palmoplantaris Striata 3 Keratosis Palmoplantaris with Esophageal Cancer Kuster Majewski Hammerstein Syndrome Loose Anagen Hair Syndrome + Macrocephaly [rgd.mcw.edu]

H I J K L M N O P Q R S T U V W X Y Z Fa-Fd Fabry's disease Faces syndrome Facial asymetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism macrocephaly [bioreference.net]

[…] cutis marmorata telangiectatica Macrocephaly dominant type Macrocephaly mental retardation facial dysmorphism Macrocephaly mesodermal hamartoma spectrum Macrocephaly mesomelic [sosu.us]

Juvenile Polyp

[…] present: >5 juvenile polyps in the colon or rectum Juvenile polyps in other parts of the GI tract Any number of juvenile polyps and a positive family history Other features: Macrocephaly [insight-group.org]

[…] polyps in patient with positive family history Extracolonic juvenile polyps are almost always syndromic Extracolonic manifestations present in about 2/3 of JPS patients Macrocephaly [basicmedicalkey.com]

There was some overlap between the clinical features of JPS patients and these other syndromes—three patients had macrocephaly for example—but no specific features to suggest [gut.bmj.com]

Cutis Marmorata Telangiectatica Congenita

Macrocephaly-cutis marmorata telangiectatica congenita is a recently recognized syndrome described mainly in the genetics literature. [ncbi.nlm.nih.gov]

The name macrocephaly-capillary malformations (M-CM) more accurately reflects the features of this syndrome. [ncbi.nlm.nih.gov]

Abstract We present the clinical history and findings in 4 children and adolescents with the association of macrocephaly and cutis marmorata telangiectatica congenita (Macrocephaly-CMTC [ncbi.nlm.nih.gov]

Cephalhematoma

Cephalhematoma is more frequently associated with hard labor of infancy, but the incidence of ossified cephalhematoma is a rare clinical entity. This case report presents a 2-month-old infant with an ossified cephalhematoma who was treated successfully by excision. Cephalhematoma goes to an ossification process[…] [ncbi.nlm.nih.gov]

Macrocephaly

Macrocephaly An MRI of a patient with benign familial macrocephaly (male with head circumference > 60cm) Specialty Medical genetics Macrocephaly is a condition in which the [en.wikipedia.org]

1 macrocephaly English-spanish dictionary > macrocephaly 2 macrocephaly English-Italian dictionary > macrocephaly 3 macrocephaly English-german dictionary > macrocephaly 4 [translate.academic.ru]

Unilateral macrocephaly seems to be associated with poor outcomes. [obgyn.mhmedical.com]

17q11 Microdeletion Syndrome

[…] developmental delay; Hearing impairment; Hypertelorism; Inguinal freckling; Intellectual disability; Joint hypermobility; Large hands; Lisch nodules; Long foot; Low-set ears; Macrocephaly [mousephenotype.org]

Some patients are reported to have microcephaly or macrocephaly, optic pathway glioma, iris coloboma (see these terms), heart defects (mitral valve prolapse, aortic dilatation [malacards.org]

Juvenile Polyposis Syndrome

The current clinical findings and deletion of BMPR1A indicate a diagnosis of severe juvenile polyposis, but the existing macrocephaly and PTEN deletion also point to either [ncbi.nlm.nih.gov]

Telangiectasia/vascular abnormalities were observed in 4 (9%) patients, and macrocephaly was observed in 5 (11%). [ncbi.nlm.nih.gov]

Familial Scaphocephaly Syndrome

Seven (63%) have scaphocephaly and 10 (91%) have macrocephaly. Of 19 unaffected individuals, three had macrocephaly with tall stature, and none had scaphocephaly. [jmg.bmj.com]

No MeSH references Very frequent - Autosomal dominant inheritance - High forehead - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Macrocephaly [csbg.cnb.csic.es]

Affiliated tissues include bone, and related phenotypes are macrocephaly and hypertelorism [malacards.org]

Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

6011000124106~MAPRULE~IFA 722033000 | Macrocephaly, short stature, paraplegia syndrome (disorder) | 6011000124106~MAPPRIORITY~1 6011000124106~MAPRULE~OTHERWISE TRUE 6011000124106 [bioportal.bioontology.org]

Fig. 1 Child with macrocephaly. [thieme-connect.com]

Dysplasia Crouzon syndrome + Dandy Walker Cyst + Dandy Walker Malformation Postaxial Polydactyly Dandy Walker Variant Dandy-Walker Malformation with Mental Retardation, Macrocephaly [rgd.mcw.edu]

Myelocerebellar Disorder

[…] cutis marmorata telangiectatica * Macrocephaly dominant type * Macrocephaly mental retardation facial dysmorphism * Macrocephaly mesodermal hamartoma spectrum * Macrocephaly [en.academic.ru]

[…] cutis marmorata telangiectatica Macrocephaly dominant type Macrocephaly mental retardation facial dysmorphism Macrocephaly mesodermal hamartoma spectrum Macrocephaly mesomelic [thefullwiki.org]

[…] mesomelic arms talipes * Macrocephaly pigmentation large hands feet * Macrocephaly short stature paraplegia * Macrodactyly of the foot * Macrodactyly of the hand * Macroepiphyseal [en.academic.ru]

Gorlin Syndrome

With the exception of macrocephaly, many of these features become pronounced around puberty. [genedx.com]

However, fetal macrocephaly and overgrowth were found at 30 weeks' gestation. Postnatally, the infant manifested characteristic features of Gorlin syndrome. [ncbi.nlm.nih.gov]

Craniofacial and other skeletal anomalies displayed at 3D and helical CT scan were: macrocephaly, positional plagiocephaly, skull base and sphenoid asymmetry, bifidity of [ncbi.nlm.nih.gov]