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Increased head circumference

MedGen UID:
909477
Concept ID:
C4083076
Finding
Synonyms: Large head; Large head circumference
 
HPO: HP:0040194

Definition

An abnormally increased head circumference in a growing child. Head circumference is measured with a nonelastic tape and comprises the distance from above the eyebrows and ears and around the back of the head. The measured HC is then plotted on an appropriate growth chart. [from HPO]

Conditions with this feature

Autosomal recessive osteopetrosis 7
MedGen UID:
436770
Concept ID:
C2676766
Disease or Syndrome
A few individuals have been diagnosed with intermediate autosomal osteopetrosis (IAO), a form of the disorder that can have either an autosomal dominant or an autosomal recessive pattern of inheritance. The signs and symptoms of this condition become noticeable in childhood and include an increased risk of bone fracture and anemia. People with this form of the disorder typically do not have life-threatening bone marrow abnormalities. However, some affected individuals have had abnormal calcium deposits (calcifications) in the brain, intellectual disability, and a form of kidney disease called renal tubular acidosis.\n\nOther features of autosomal recessive osteopetrosis can include slow growth and short stature, dental abnormalities, and an enlarged liver and spleen (hepatosplenomegaly). Depending on the genetic changes involved, people with severe osteopetrosis can also have brain abnormalities, intellectual disability, or recurrent seizures (epilepsy).\n\nAutosomal recessive osteopetrosis (ARO) is a more severe form of the disorder that becomes apparent in early infancy. Affected individuals have a high risk of bone fracture resulting from seemingly minor bumps and falls. Their abnormally dense skull bones pinch nerves in the head and face (cranial nerves), often resulting in vision loss, hearing loss, and paralysis of facial muscles. Dense bones can also impair the function of bone marrow, preventing it from producing new blood cells and immune system cells. As a result, people with severe osteopetrosis are at risk of abnormal bleeding, a shortage of red blood cells (anemia), and recurrent infections. In the most severe cases, these bone marrow abnormalities can be life-threatening in infancy or early childhood.\n\nIn individuals with ADO who develop signs and symptoms, the major features of the condition include multiple bone fractures after minor injury, abnormal side-to-side curvature of the spine (scoliosis) or other spinal abnormalities, arthritis in the hips, and a bone infection called osteomyelitis. These problems usually become apparent in late childhood or adolescence.\n\nAutosomal dominant osteopetrosis (ADO), which is also called Albers-Schönberg disease, is typically the mildest type of the disorder. Some affected individuals have no symptoms. In affected people with no symptoms, the unusually dense bones may be discovered by accident when an x-ray is done for another reason. \n\nOsteopetrosis is a bone disease that makes bone tissue abnormally compact and dense and also prone to breakage (fracture). Researchers have described several major types of osteopetrosis, which are usually distinguished by their pattern of inheritance: autosomal dominant or autosomal recessive. The different types of the disorder can also be distinguished by the severity of their signs and symptoms.
Multiple congenital anomalies-hypotonia-seizures syndrome 2
MedGen UID:
477139
Concept ID:
C3275508
Disease or Syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Intellectual disability, autosomal recessive 34
MedGen UID:
482674
Concept ID:
C3281044
Disease or Syndrome
MRT34 is an autosomal recessive neurologic disorder characterized by mildly to moderately impaired intellectual development and megalencephaly or enlarged head circumference. Brain imaging shows a mild variant of lissencephaly with anterior-predominant pachygyria with shallow and unusually wide sulci and mildly thickened cortex. Some patients may have seizures (summary by Di Donato et al., 2016).
Syndromic X-linked intellectual disability 34
MedGen UID:
902184
Concept ID:
C4225417
Mental or Behavioral Dysfunction
X-linked syndromic intellectual developmental disorder-34 (MRXS34) is an X-linked recessive neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with poor speech, dysmorphic facial features, and mild structural brain abnormalities, including thickening of the corpus callosum (summary by Mircsof et al., 2015).

Professional guidelines

PubMed

Yan WT, Li XZ, Yan CX, Liu JC
Interv Neuroradiol 2021 Feb;27(1):31-36. Epub 2020 Jul 1 doi: 10.1177/1591019920938965. PMID: 32611214Free PMC Article
van Dommelen P, Deurloo JA, Gooskens RH, Verkerk PH
Pediatr Neurol 2015 Apr;52(4):414-8. Epub 2015 Jan 8 doi: 10.1016/j.pediatrneurol.2014.06.024. PMID: 25657077
Melo JR, de Melo EN, de Vasconcellos AG, Pacheco P
Childs Nerv Syst 2013 Oct;29(10):1899-903. Epub 2013 Apr 23 doi: 10.1007/s00381-013-2111-y. PMID: 23609898

Recent clinical studies

Etiology

Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH 2nd, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby AH, Baple EL, Logan DW, Hurles ME, Gerety SS
Brain 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. PMID: 37437211Free PMC Article
Kankam SB, Karami S, Nejat A, Meybodi KT, Habibi Z, Nejat F
Childs Nerv Syst 2023 Sep;39(9):2479-2485. Epub 2023 Apr 3 doi: 10.1007/s00381-023-05946-9. PMID: 37010583
Hart S, Avery R, Barron J
Childs Nerv Syst 2020 Aug;36(8):1601-1606. Epub 2020 May 15 doi: 10.1007/s00381-020-04663-x. PMID: 32409961
Grandgeorge M, Lemonnier E, Jallot N
Acta Paediatr 2013 Sep;102(9):901-7. Epub 2013 Jun 28 doi: 10.1111/apa.12264. PMID: 23581647
Fukumoto A, Hashimoto T, Mori K, Tsuda Y, Arisawa K, Kagami S
Brain Dev 2011 Aug;33(7):569-75. Epub 2010 Oct 8 doi: 10.1016/j.braindev.2010.09.004. PMID: 20934821

Diagnosis

Levitin MO, Rawlins LE, Sanchez-Andrade G, Arshad OA, Collins SC, Sawiak SJ, Iffland PH 2nd, Andersson MHL, Bupp C, Cambridge EL, Coomber EL, Ellis I, Herkert JC, Ironfield H, Jory L, Kretz PF, Kant SG, Neaverson A, Nibbeling E, Rowley C, Relton E, Sanderson M, Scott EM, Stewart H, Shuen AY, Schreiber J, Tuck L, Tonks J, Terkelsen T, van Ravenswaaij-Arts C, Vasudevan P, Wenger O, Wright M, Day A, Hunter A, Patel M, Lelliott CJ, Crino PB, Yalcin B, Crosby AH, Baple EL, Logan DW, Hurles ME, Gerety SS
Brain 2023 Nov 2;146(11):4766-4783. doi: 10.1093/brain/awad231. PMID: 37437211Free PMC Article
Kankam SB, Karami S, Nejat A, Meybodi KT, Habibi Z, Nejat F
Childs Nerv Syst 2023 Sep;39(9):2479-2485. Epub 2023 Apr 3 doi: 10.1007/s00381-023-05946-9. PMID: 37010583
Hart S, Avery R, Barron J
Childs Nerv Syst 2020 Aug;36(8):1601-1606. Epub 2020 May 15 doi: 10.1007/s00381-020-04663-x. PMID: 32409961
Grandgeorge M, Lemonnier E, Jallot N
Acta Paediatr 2013 Sep;102(9):901-7. Epub 2013 Jun 28 doi: 10.1111/apa.12264. PMID: 23581647
Fukumoto A, Hashimoto T, Mori K, Tsuda Y, Arisawa K, Kagami S
Brain Dev 2011 Aug;33(7):569-75. Epub 2010 Oct 8 doi: 10.1016/j.braindev.2010.09.004. PMID: 20934821

Therapy

Kankam SB, Karami S, Nejat A, Meybodi KT, Habibi Z, Nejat F
Childs Nerv Syst 2023 Sep;39(9):2479-2485. Epub 2023 Apr 3 doi: 10.1007/s00381-023-05946-9. PMID: 37010583
Grindheim S, Ebbing C, Karlsen HO, Skulstad SM, Real FG, Lønnebotn M, Løvvik T, Vanky E, Kessler J
PLoS One 2022;17(1):e0262987. Epub 2022 Jan 28 doi: 10.1371/journal.pone.0262987. PMID: 35089960Free PMC Article
Teller IC, Embleton ND, Griffin IJ, van Elburg RM
Clin Nutr 2016 Aug;35(4):791-801. Epub 2015 Sep 5 doi: 10.1016/j.clnu.2015.08.006. PMID: 26499034
Lee PA, Houk CP
Pediatr Endocrinol Rev 2012 Dec-2013 Jan;10(2):209-16. PMID: 23539832
Bassett AS, Chow EW, Bury A, Ali F, Haylock CA, Smith GN, Lapointe JS, Honer WG
Biol Psychiatry 1996 Dec 1;40(11):1173-5. doi: 10.1016/S0006-3223(96)00288-0. PMID: 8931921Free PMC Article

Prognosis

Hart S, Avery R, Barron J
Childs Nerv Syst 2020 Aug;36(8):1601-1606. Epub 2020 May 15 doi: 10.1007/s00381-020-04663-x. PMID: 32409961
Teller IC, Embleton ND, Griffin IJ, van Elburg RM
Clin Nutr 2016 Aug;35(4):791-801. Epub 2015 Sep 5 doi: 10.1016/j.clnu.2015.08.006. PMID: 26499034
Grandgeorge M, Lemonnier E, Jallot N
Acta Paediatr 2013 Sep;102(9):901-7. Epub 2013 Jun 28 doi: 10.1111/apa.12264. PMID: 23581647
Lainhart JE, Bigler ED, Bocian M, Coon H, Dinh E, Dawson G, Deutsch CK, Dunn M, Estes A, Tager-Flusberg H, Folstein S, Hepburn S, Hyman S, McMahon W, Minshew N, Munson J, Osann K, Ozonoff S, Rodier P, Rogers S, Sigman M, Spence MA, Stodgell CJ, Volkmar F
Am J Med Genet A 2006 Nov 1;140(21):2257-74. doi: 10.1002/ajmg.a.31465. PMID: 17022081Free PMC Article
Kennedy TS, Oakland MJ, Shaw RD
J Am Diet Assoc 1999 Dec;99(12):1522-6; quiz 1527-8. doi: 10.1016/s0002-8223(99)00372-7. PMID: 10608945

Clinical prediction guides

Joustra SD, Roelfsema F, van Trotsenburg ASP, Schneider HJ, Kosilek RP, Kroon HM, Logan JG, Butterfield NC, Zhou X, Toufaily C, Bak B, Turgeon MO, Brûlé E, Steyn FJ, Gurnell M, Koulouri O, Le Tissier P, Fontanaud P, Duncan Bassett JH, Williams GR, Oostdijk W, Wit JM, Pereira AM, Biermasz NR, Bernard DJ, Schoenmakers N
J Clin Endocrinol Metab 2020 Mar 1;105(3):e70-84. doi: 10.1210/clinem/dgz093. PMID: 31650157Free PMC Article
Grandgeorge M, Lemonnier E, Jallot N
Acta Paediatr 2013 Sep;102(9):901-7. Epub 2013 Jun 28 doi: 10.1111/apa.12264. PMID: 23581647
Lee PA, Houk CP
Pediatr Endocrinol Rev 2012 Dec-2013 Jan;10(2):209-16. PMID: 23539832
Fukumoto A, Hashimoto T, Mori K, Tsuda Y, Arisawa K, Kagami S
Brain Dev 2011 Aug;33(7):569-75. Epub 2010 Oct 8 doi: 10.1016/j.braindev.2010.09.004. PMID: 20934821
Lainhart JE, Bigler ED, Bocian M, Coon H, Dinh E, Dawson G, Deutsch CK, Dunn M, Estes A, Tager-Flusberg H, Folstein S, Hepburn S, Hyman S, McMahon W, Minshew N, Munson J, Osann K, Ozonoff S, Rodier P, Rogers S, Sigman M, Spence MA, Stodgell CJ, Volkmar F
Am J Med Genet A 2006 Nov 1;140(21):2257-74. doi: 10.1002/ajmg.a.31465. PMID: 17022081Free PMC Article

Recent systematic reviews

Suganuma M, Rumbold AR, Miller J, Chong YF, Collins CT
Nutrients 2021 Jun 18;13(6) doi: 10.3390/nu13062089. PMID: 34207261Free PMC Article
Fabrizio V, Trzaski JM, Brownell EA, Esposito P, Lainwala S, Lussier MM, Hagadorn JI
Cochrane Database Syst Rev 2020 Nov 23;11(11):CD013465. doi: 10.1002/14651858.CD013465.pub2. PMID: 33226632Free PMC Article
Zhan Y, Liu J, Lu Z, Yue H, Zhang J, Jiang Y
Sci Total Environ 2020 May 20;718:137420. Epub 2020 Feb 19 doi: 10.1016/j.scitotenv.2020.137420. PMID: 32325616
Teller IC, Embleton ND, Griffin IJ, van Elburg RM
Clin Nutr 2016 Aug;35(4):791-801. Epub 2015 Sep 5 doi: 10.1016/j.clnu.2015.08.006. PMID: 26499034
Delgado-Noguera MF, Calvache JA, Bonfill Cosp X
Cochrane Database Syst Rev 2010 Dec 8;(12):CD007901. doi: 10.1002/14651858.CD007901.pub2. PMID: 21154388

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