Possible Causes for macrocephaly 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 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] 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] 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] Infantile Cortical Hyperostosis Laplane 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] 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] Achondroplasia is an autosomal dominant disease which is characterized by limb shortening and narrow trunk, and macrocephaly. [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 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] Some symptoms (hernia, macrocephaly, respiratory infections, and limited hip abduction) become apparent early in infancy but the complete clinical picture develops during [icd10data.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 [ghr.nlm.nih.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] 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] Beta Thalassemia BACKGROUND AND OBJECTIVES: Thalassemia syndrome is the most common genetic disorder in the world and infection is the second cause of death in these patients. Measurement of serum C3 and C4 complement factors in serum was done in 60 patients with beta thalassemia major in comparison with 30 healthy subjects[…] [ncbi.nlm.nih.gov] Legius Syndrome 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] Multiple cafe-au-lait spots and macrocephaly are present. LS is caused by germline loss-of-function SPRED1 mutations. [malacards.org] Multiple café-au-lait spots and macrocephaly are present with or without axillary or inguinal freckling. [ncbi.nlm.nih.gov] 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] 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] Cutis Marmorata Telangiectatica Congenita 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] 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] Hereditary Hyperphosphatasia TUBA1A Lissencephaly type 5 LAMB1 Lissencephaly, X-linked type 1 DCX Lissencephaly, X-linked type 2 ARX Lujan-Fryns syndrome MED12 Lymphedema-distichiasis syndrome FOXC2 Macrocephaly [centogene.com] […] carcinoma, somatic (ENDMC) Glioma susceptibility 2 (GLM2) Juvenile polyposis syndrome, infantile Lhermitte-Duclos syndrome (LDD) (Cerebelloparenchymal disorder VI (CPD6)) Macrocephaly [uniklinik-freiburg.de] Alopecia, Cutis Laxa, And Scoliosis 3 Macrocephaly/Autism Syndrome 3 Macrothrombocytopenia And Progressive Sensorineural Deafness 2 Macrothrombocytopenia, Autosomal Dominant [preventiongenetics.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] 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] 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] 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] Benign familial macrocephaly may be seen in multiple generations and is not associated with neurologic concerns. [ncbi.nlm.nih.gov] Conditions where macrocephaly is a predominant aspect of the clinical presentation are discussed and a diagnostic approach to the common macrocephaly disorders is provided [ncbi.nlm.nih.gov] Waisman Syndrome Source: JABL: A syndrome of macrocephaly, persistent frontal lobe reflexes, cogwheel rigidity, postural changes, parkinsonian tremors, and mental retardation with occasional [linkedlifedata.com] Results Two males with an inherited RAB39B mutation both presented with macrocephaly, intellectual disability (ID), and ASD. [figshare.com] 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] 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] Gorlin Syndrome 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] With the exception of macrocephaly, many of these features become pronounced around puberty. [genedx.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] 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] 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] 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] 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] Simpson Dysmorphia Syndrome We report on 2 brothers with overgrowth, macrocephaly, polydactyly, supernumerary nipples, and characteristic facial appearance. [ncbi.nlm.nih.gov] […] findings include early onset intractable epileptic encephalopathy with a burst-suppression pattern on EEG, generalized muscular hypotonia, structural brain abnormalities, macrocephaly [zora.uzh.ch] Russell-Silver Syndrome Among RSS patients, prominent forehead, relative macrocephaly, body asymmetry, and low BMI were significantly associated with ICR1 LOM. [ncbi.nlm.nih.gov] Silver-Russell syndrome is a clinically and genetically heterogeneous disorder, characterized by prenatal and postnatal growth restriction, relative macrocephaly, body asymmetry [ncbi.nlm.nih.gov] We describe a 10-year-old Taiwanese RSS girl with prenatal and postnatal growth retardation, relative macrocephaly, a triangular face, frontal bossing, and mild fifth finger [ncbi.nlm.nih.gov] Paget Disease of the Bone Osteitis deformans, also known as Paget's disease, is a condition frequently observed in elderly patients, despite the fact that it's prevalence has decreased over the last 20 years. With unclear etiology, this pathological entity is characterized by abnormal behavior of osteoclasts and osteoblasts, leading to[…] [symptoma.com]
