Macrocephaly: Causes & Reasons

Possible Causes for Macrocephaly

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

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]

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

Although normocephaly is often present, macrocephaly may be pronounced and normal vaginal delivery may be impossible. [radiopaedia.org]

He had macrocephaly and full fontanelles. Imaging demonstrated hemimegalencephaly and subependymal nodules (figure). [n.neurology.org]

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]

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]

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

Case report: The patient is a 6-year-old male with bilateral hearing loss from infancy, scoliosis at age 2, and short gesture, macrocephaly and strabismus. [nnj.mums.ac.ir]

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 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]

Macrocephaly, a flattened J-shaped sella turcica, and odontoid hypoplasia are described. Rib widening and spinal kyphosis and scoliosis are seen. [journals.lww.com]

CINCA Syndrome

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

[…] major visual impairment including blindness retinal vasculitis – rare Physical appearance Prominent forehead Flattening of the nasal bridge (saddleback nose) Large head (macrocephaly [dermnetnz.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]

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]

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]

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

What is beta thalassemia? Thalassemia is a blood disorder that is inherited. This means it's passed down from one or both parents through their genes. When you have thalassemia, your body makes less hemoglobin than normal. Hemoglobin is an iron-rich protein in red blood cells. It carries oxygen to all parts of the[…] [lluh.org]

Legius Syndrome

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

10.53347/rID-83901 Legius syndrome is a neurocutaneous disease, one of the RASopathies, and is characterized by multiple café-au-lait spots, with or without freckles and macrocephaly [radiopaedia.org]

Additional clinical manifestations reported commonly include intertriginous freckling, lipomas, macrocephaly, and learning disabilities / ADHD / developmental delays. [rasopathiesnet.org]

Cutis Marmorata Telangiectatica Congenita

Toriello HVMulliken JB Accurately renaming macrocephaly–cutis marmorata telangiectatica congenita (M-CMTC) as macrocephaly–capillary malformation (M-CM). [jamanetwork.com]

ABSTRACT Macrocephaly-cutis marmorata telangiectatica congenita syndrome (macrocephaly - CMTC) is an uncommon skin condition that is accompanied with macrocephaly cutis marmorata [medigraphic.com]

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

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]

Macrocephaly (or "big head") is a very common reason for referral to a pediatric neurosurgeon. [chadkids.org]

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

Fitzsimmons-McLachlan-Gilbert Syndrome

[…] spastic paraparesis Fanconi syndrome Fara-chlupackova syndrome Fitzsimmons-mclachlan-gilbert syndrome Fitzsimmons-walson-mellor syndrome - Fluoride Friedreich's ataxia Fryns macrocephaly [wikidoc.org]

7.3 Fro-Fru 7.4 Fry 8 Fu Fa Fab Fabry's disease Fac Face-Faci Faces syndrome Facial asymmetry temporal seizures Facial clefting corpus callosum agenesis Facial dysmorphism macrocephaly [bionity.com]

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

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

These can include developmental delay, significant motor slowness, feeding difficulties, enlargement of the head (macrocephaly), loss of muscle tone (hypotonia), and poor [medicinenet.com]

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]

Gorlin Syndrome

[…] syndrome. multiple basal cell carcinomas, often at puberty and in adolescence craniofacial anomalies odontogenic keratocysts, often multiple frontal bossing hypertelorism: 5% macrocephaly [radiopaedia.org]

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]

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]

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]

MYOPIA, DANDY-WALKER MALFORMATION SYNDROME CHOOSE H52.10 | CONSIDER LATERALITY SPECIFICATION | MAP OF SOURCE CONCEPT IS CONTEXT DEPENDENT 6011000124106~MAPADVICE~IF MACROCEPHALY [bioportal.bioontology.org]

Simpson Dysmorphia Syndrome

is a rare X-linked multiple congenital abnormality/intellectual disability syndrome characterized by pre- and post-natal overgrowth, distinctive craniofacial features, macrocephaly [hal.archives-ouvertes.fr]

A 14.5-year-old boy presented with intellectual disability, overgrowth, macrocephaly, dysmorphic facial features, and supernumerary nipples (Fig. 1a, b, c). [nature.com]

Wisniewska M, Jensen LR, Raynaud M, Shoichet SA, Badura M, Lenzner S, Latos-Bielenska A, Ropers HH Title A novel X-linked recessive mental retardation syndrome comprising macrocephaly [genome.jp]

Launois Syndrome

Launois- Bensaude Syndrome (Madelung' s Disease) Bojanic Petar, Simovic Ivan Dermatology Online Journal 7(2): 9 Krusevac, Yugoslavia Abstract A case of Launois-Bensaude Syndrome (Madelung's disease) in a chronic alsoholic is presented and the typical features are discussed. This entity should be considered in[…] [escholarship.org]

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]