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726 Possible Causes for Progressive Macrocephaly

  • Alexander Disease

    We describe two unrelated girls with slowly progressive leukodystrophy with macrocephaly.[ncbi.nlm.nih.gov] The disease's spectrum comprises of macrocephaly, progressive pyramidal signs, and seizures in congenital and infantile subtypes.[ncbi.nlm.nih.gov] Alexander disease is a neurodegenerative disorder characterized by macrocephaly and progressive demyelination with frontal lobe preponderance.[ncbi.nlm.nih.gov]

  • Canavan Disease

    We report on a non-Jewish female infant who presented at age 6 months with progressive macrocephaly and developmental delay.[ncbi.nlm.nih.gov] Canavan disease is an autosomal recessive leukodystrophy characterized by early onset developmental delay, initial hypotonia progressing to hypertonia, macrocephaly and blindness[ncbi.nlm.nih.gov] Canavan disease (CD) is a rare autosomal recessive disorder characterized by macrocephaly and progressive leukodystrophy.[ncbi.nlm.nih.gov]

  • Macrocephaly

    The M-CMTC syndrome should be considered when there is a marked fetal overgrowth and progressive macrocephaly with no indications of maternal hyperglycemia or fetal hyperinsulinism[ncbi.nlm.nih.gov] The child we describe presented with progressive macrocephaly not associated with dysmorphic features and large abdominoscrotal hydrocele.[ncbi.nlm.nih.gov] There are even fewer cases of infants with long-standing hydrocephalus in whom macrocephaly progresses and is accompanied by skull defect due to malunion of suture lines despite[ncbi.nlm.nih.gov]

  • Proteus

    ., disproportionate and progressive distorting skeletal overgrowth, CCTN) of PS are important distinctions that can aid in clinical diagnosis.[ncbi.nlm.nih.gov] PTEN hamartoma tumor syndrome (PHTS) is a heterogeneous disorder that manifests asymmetric overgrowth, macrocephaly, cutaneous vascular malformations, and tumor susceptibility[ncbi.nlm.nih.gov]

  • Familial Hypercholesterolemia

    , Alopecia, Cutis Laxa, And Scoliosis 3 Macrocephaly/Autism Syndrome 3 Macrothrombocytopenia And Progressive Sensorineural Deafness 2 Macrothrombocytopenia, Autosomal Dominant[preventiongenetics.com] Syndrome, X-Linked, 1 5 Lymphoproliferative Syndrome, X-Linked, 2 3 Lynch Syndrome I 12 Lynch Syndrome II 10 Lysinuric Protein Intolerance 3 Lysosomal Acid Lipase Deficiency 2 Macrocephaly[preventiongenetics.com]

  • Paraparesis

    , progressive macrocephaly and refractory epilepsy.[ncbi.nlm.nih.gov] Infantile Alexander disease is a rare progressive leukodystrophy caused by autosomal dominant mutations in the (GFAP) gene typically presenting with psychomotor retardation[ncbi.nlm.nih.gov]

  • Cutis Marmorata Telangiectatica Congenita

    The M-CMTC syndrome should be considered when there is a marked fetal overgrowth and progressive macrocephaly with no indications of maternal hyperglycemia or fetal hyperinsulinism[ncbi.nlm.nih.gov] The authors describe 2 cases of macrocephaly-cutis marmorata telangiectatica congenita successfully treated for progressive hydrocephalus with endoscopic third ventriculostomy[ncbi.nlm.nih.gov] This report describes a patient with features of macrocephaly-cutis marmorata telangiectatica congenita, though mildly affected, and her progression into teenage life.[ncbi.nlm.nih.gov]

  • Waisman Syndrome

    Additional features typically include progressive enlargement of the head (macrocephaly); abnormally increased muscle stiffness and restriction of movement (spasticity); lack[rarediseases.org]

  • Hydrocephalus

    Infants commonly present with progressive macrocephaly whereas children older than 2 years generally present with signs and symptoms of intracranial hypertension.[ncbi.nlm.nih.gov]

  • Autism

    We describe a 14-year-old boy with autistic disorder, focal epilepsy, severe and progressive macrocephaly, and multiple papular skin lesions and palmoplantar punctate keratoses[ncbi.nlm.nih.gov] […] and oncogenesis, leading to macrocephaly/macrosomy and to cancer development, respectively. 65 Germline PTEN mutations have been found in approximately 80% of individuals[doi.org] macrocephaly, as initially reported by Goffin et al. 66 A study by Butler et al 67 identified three de novo heterozygous PTEN germline mutations in 18 (16.6%) people with[doi.org]

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