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]

Macrocephaly was noted in approximately half the cases. This contradicts a finding of normocephaly in previous studies. [ncbi.nlm.nih.gov]

Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity; 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]

Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly. [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]

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]

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]

Mucopolysaccharidosis

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

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]

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 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 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 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 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]

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

Macrocephaly is typically present, and other clinical features include progressive quadriparesis and intellectual failure. Most of the cases are sporadic. [radiopaedia.org]

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

There are three clinical forms: infantile/childhood-onset juvenile onset adult onset (AOAD) Childhood-onset Alexander disease is sporadic and typically presents with macrocephaly [radiopaedia.org]

Beta Thalassemia

Review Open Access Published: 21 May 2010 Orphanet Journal of Rare Diseases volume 5, Article number: 11 (2010) Cite this article 208k Accesses 681 Citations 287 Altmetric Metrics details Abstract Beta-thalassemias are a group of hereditary blood disorders characterized by anomalies in the synthesis of the beta[…] [ojrd.biomedcentral.com]

Legius Syndrome

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

Multiple café-au-lait spots and macrocephaly are present with or without axillary or inguinal freckling. [repub.eur.nl]

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 [medizinische-genetik.de]

Cutis Marmorata Telangiectatica Congenita

“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]

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]

The authors report a case of an infant girl with macrocephaly-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]

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]

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

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

Waisman Syndrome

Summary The Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel (test code MA1401): ICD codes Commonly used ICD-10 code(s) when ordering the Macrocephaly / Overgrowth [blueprintgenetics.com]

Results Two males with an inherited RAB39B mutation both presented with macrocephaly, intellectual disability (ID), and ASD. [figshare.com]

X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly [malacards.org]

Macrocephaly

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

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]

Benign familial macrocephaly may be seen in multiple generations and is not associated with neurologic concerns. [ncbi.nlm.nih.gov]

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]

Familial Scaphocephaly Syndrome

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

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

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]

Gorlin Syndrome

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

The TC examination proved the calcification of falx cerebri and confirmed the clinically diagnosed macrocephaly while the chest X-ray revealed the presence of a bifid rib. [revistasrd.ro]

Major criteria Minor criteria Calcification of falx cerebri Childhood medulloblastoma Jaw keratocyst Lympho-mesenteric or pleural cysts Palmar or plantar pits (two or more) Macrocephaly [academic.oup.com]

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]

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

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

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

Aminoacylase 2 deficiency Spongy degeneration of the brain CD edit English Canavan disease neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly [wikidata.org]

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]

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]