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2,068 Possible Causes for Macrocephaly, Progressive in Infancy

Did you mean: Macrocephaly, Progressive in, Infancy

  • Canavan Disease

    All children presented with muscular hypotonia and macrocephaly.[] Canavan disease is a progressive, fatal neurological disorder that begins in infancy.[] , and is one of the most common degenerative cerebral diseases of infancy.[]

  • 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[] Affected individuals develop progressive skeletal malformations especially in the long bones of the arms and legs.[] […] carcinoma, somatic (ENDMC) Glioma susceptibility 2 (GLM2) Juvenile polyposis syndrome, infantile Lhermitte-Duclos syndrome (LDD) (Cerebelloparenchymal disorder VI (CPD6)) Macrocephaly[]

  • Achondroplasia

    The diagnosis of achondroplasia is based on typical clinical and radiological features including short stature, macrocephaly with frontal bossing, midface hypoplasia and rhizomelic[] In infancy, hypotonia is typical, and acquisition of developmental motor milestones is often both aberrant in pattern and delayed.[] The clinical and radiological features of achondroplasia can easily be identified; they include disproportionate short stature with rhizomelic shortening, macrocephaly with[]

  • CINCA Syndrome

    Craniofacial abnormalities include macrocephaly with frontal bossing, saddle-back nose, and delayed closure of the anterior fontanel.[] NOMID/CINCA patients often have sensorineural hearing loss, or progressive losses, but this begins in infancy or early childhood.[] Other findings that have been reported include macrocephaly (95%), large fontanelle, prominent forehead, flattening of the nasal bridge (saddleback nose), short and thick[]

  • Mucopolysaccharidosis

    The patient had severe infantile global neurodevelopmental delays, macrocephaly with a prominent forehead, coarse facial features with clear corneas, chronic congestion with[] Clinically, Mucopolysaccharidosis type I is classified into two forms: severe (Hurler syndrome), which presents in infancy and is characterized by rapid progressive neurological[] Hirsutism, macrocephaly, and limited joint movements. Four types, each with a different enzyme deficiency, are recognized: a, b, c and d.[]

  • Glutaric Aciduria

    A 45-month-old child who had bitemporal arachnoid cysts and macrocephaly unrelated to glutaric aciduria type 1 (GA 1) was reported.[] Another patient had a chronic progressive disease during infancy that caused bilateral putamen lesions.[] […] and chronic progressive changes that may continue lifelong.[]

  • 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[] […] with progressive hemiparesis, severe psychomotor retardation and intractable seizures.[] He later showed macrocephaly, developmental delay, athetotic quadriplegic cerebral palsy, and neuromuscular scoliosis.[]

  • 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[] Glaucoma is the most commonly reported ocular association of CMTC, usually presenting in infancy.[] We report this case because of the rarity of a diagnosis of CMTC in an adult patient, because this condition has almost always previously been diagnosed in infancy, or it[]

  • Alexander Disease

    It is characterized clinically by spasticity, seizures, dementia, loss of developmental milestones, and macrocephaly.[] […] system Alexander's disease Alexander's disease (disorder) ALEXANDER DISEASE Megalencephaly in infancy accompanied by progressive spasticity and dementia ALEXANDER DISEASE[] Alexander disease is an autosomal dominant leukoencephalopathy characterized by developmental delay, macrocephaly, and characteristic neuroimaging abnormalities predominantly[]

  • Mucopolysaccharidosis 2

    Other symptoms may include carpal tunnel syndrome, coarse facial features, deafness, hairy body (hypertrichosis), joint stiffness, and a large head (macrocephaly).[] It usually presents in late infancy and is progressive, leading to neurological impairment, deafness and somatic dysfunction, with death by adolescence/third decade.[] Macrocephaly develops during infancy and infants initially grow at normal or above average rates.[]

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