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]

Hypochondroplasia

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]

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]

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]

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

His past medical history was significant for macrocephaly and plagiocephaly. Birth and development had been normal. [consultqd.clevelandclinic.org]

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]

Cutis Marmorata Telangiectatica Congenita

PubMed CrossRef Google Scholar Toriello HV, Mulliken JB (2007) Accurately renaming macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly-capillary [link.springer.com]

We describe a child with macrocephaly-cutis marmorata telangiectatica congenita (M-CMTC), cherry red macules, megalencephaly with hemifacial and segmental overgrowth, macrosomia [ncbi.nlm.nih.gov]

Although he does not have macrocephaly, his clinical picture is compatible with the diagnosis of Macrocephaly-cutis marmorata telangiectatica congenita syndrome (M-CMTC). [ncbi.nlm.nih.gov]

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]

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]

Synonym(s): macrocephaly, macrocephalia, megalocephaly, megalocephalia. [ mega- + G. kephalē, head] macrocephaly abnormal enlargement of the cranium. [medical-dictionary.thefreedictionary.com]

Pronunciation macrocephaly /ˌmakrə(ʊ)ˈkɛf(ə)li/ /ˌmakrə(ʊ)ˈsɛf(ə)li/ [en.oxforddictionaries.com]

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]

Adult Krabbe Disease

We present the MR imaging findings in four patients (two pairs of siblings from two unrelated families) with adult Krabbe disease. In the first family, clinical presentation mimicked familial spastic paraplegia. Their MR images showed selective, increased signal intensity on T2-weighted sequences along the corticospinal[…] [ncbi.nlm.nih.gov]

Canavan Disease

All children presented with muscular hypotonia and macrocephaly. [ncbi.nlm.nih.gov]

From Wikidata Jump to navigation Jump to search neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental [wikidata.org]

This assay should be screened in patients with early onset of psychomotor deterioration, macrocephaly, spasticity/hypotonia and white matter hyperleucency at CT scan. [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]

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]

Launois Syndrome

We report the first description of a Launois-Bensaude syndrome involving the orbit. Launois-Bensaude syndrome was diagnosed in a 70-year-old-man who presented with severe bilateral proptosis (Hertel value 26mm). We performed a bilateral transpalpebral orbital decompression by resection of intraorbital fat without[…] [ncbi.nlm.nih.gov]

Simpson Dysmorphia Syndrome

[…] findings include early onset intractable epileptic encephalopathy with a burst-suppression pattern on EEG, generalized muscular hypotonia, structural brain abnormalities, macrocephaly [zora.uzh.ch]

These features included macrocephaly, macroglossia, post axial polydactyl of the left hand, bilateral low insertion of the thumb, multiple accessory nipples, hepatomegaly, [ajol.info]

Sotos Syndrome

Of 261 children with global developmental delay, 18 (7%) had documented macrocephaly. [ncbi.nlm.nih.gov]

Sotos syndrome is a multiple anomaly syndrome characterized by pre- and postnatal overgrowth with advanced bone age, macrocephaly, developmental delay, and distinctive facial [ncbi.nlm.nih.gov]

The clinical features of the three patients included a typical facial gestalt with frontal bossing, prominent jaw and high anterior hairline; macrocephaly, dolichocephaly, [ncbi.nlm.nih.gov]

Congenital Phlebectasia

[…] congenita syndrome": report of 12 new cases and support for revising the name to macrocephaly-capillary malformations. ( 19289759 ) Wright D.R....Paller A.S. 2009 30 [malacards.org]

"The Misnomer “Macrocephaly-Cutis Marmorata Telangiectatica Congenita Syndrome” Report of 12 new cases and support for revising the name to Macrocephaly-Capillary Malformations [dermatologyadvisor.com]

However, macrocephaly-cutis marmorata telangiectatica congenita is a recently recognized syndrome. [dailyrounds.org]