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563 Possible Causes for Mild Macrocephaly

  • Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

    The patients were born with mild macrosomia and macrocephaly and showed hypotonia and delayed psychomotor development from an early age.[bio2rdf.org] […] syndrome Intellectual disability-severe speech delay-mild dysmorphism syndrome Intellectual disability-short stature-hypertelorism syndrome Intellectual disability-sparse[se-atlas.de] Intellectual disability-polydactyly-uncombable hair syndrome Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome Intellectual disability-seizures-macrocephaly-obesity[se-atlas.de]

  • Acanthosis Nigricans

    In addition to the AN, he also exhibited a mild height deficit and macrocephaly, which prompted a search for FGFR3 mutations, although no skeletal disproportion, exaggerated[jstage.jst.go.jp]

  • Keratitis

    Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (270150) (summary by Tenorio et al., 2014).[ncbi.nlm.nih.gov] Tenorio syndrome MedGen UID: 864147 • Concept ID: C4015710 • Disease or Syndrome Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability[ncbi.nlm.nih.gov]

  • Familial Adenomatous Polyposis

    Patients with PTEN- hamartomatous syndrome can often be diagnosed in childhood, with congenital findings of macrocephaly and mild or moderate developmental delay.[emedicine.medscape.com]

  • Skin Neoplasm

    , mild mandibular prognathism, and ocular hypertelorism.[jmg.bmj.com] […] diaphragma sellae results in bridging of the sella turcica and is a common finding in NBCCS. 35 Many patients have characteristic coarse facial features with frontal bossing, macrocephaly[jmg.bmj.com]

  • Familial Papillary Thyroid Carcinoma with Papillary Renal Cell Carcinoma

    , mild learning difficulties, carpet-pile tongue, with benign or malignant breast disease).[patient.info] […] autosomal dominant disorder associated with a high lifetime risk of MTC. [ 1 ] The following are considered to be risk factors for thyroid cancer: [ 3 ] Cowden's syndrome (macrocephaly[patient.info]

  • Thyroid Lymphoma

    , mild learning difficulties, carpet-pile tongue, with benign or malignant breast disease).[patient.info] […] autosomal dominant disorder associated with a high lifetime risk of MTC. [ 1 ] The following are considered to be risk factors for thyroid cancer: [ 3 ] Cowden's syndrome (macrocephaly[patient.info]

  • Lipoma

    We describe a patient who presented with multiple subcutaneous lipomas, mild macrocephaly, and an extradural spinal hemangioma.[ncbi.nlm.nih.gov] Bannayan-Zonana syndrome is a rare hamartomatous disorder, characterized by macrocephaly, multiple lipomas, and hemangiomas.[ncbi.nlm.nih.gov]

  • Cesarean Section

    Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (270150) (summary by Tenorio et al., 2014).[ncbi.nlm.nih.gov] Tenorio syndrome MedGen UID: 864147 •Concept ID: C4015710 • Disease or Syndrome Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability[ncbi.nlm.nih.gov]

  • Macrocephaly

    Here, we report the identification of a novel homozygous variant in PTEN, NM_000314.4; c.545T C; p.Leu182Ser, in two adolescent siblings with severe macrocephaly and mild[ncbi.nlm.nih.gov] They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood.[ncbi.nlm.nih.gov]

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