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Cranial asymmetry

MedGen UID:
348059
Concept ID:
C1860245
Finding
Synonyms: Abnormality of cranial vault shape; Abnormality of cranium shape; Abnormality of head shape; Asymmetry of cranium; Asymmetry of head; Cranial vault asymmetry; Malformation of cranial vault shape; Malformation of cranium shape; Malformation of head shape; Uneven head shape
 
HPO: HP:0000267

Definition

Asymmetry of the bones of the skull. [from HPO]

Conditions with this feature

Holoprosencephaly 7
MedGen UID:
372134
Concept ID:
C1835820
Disease or Syndrome
Holoprosencephaly (HPE) is the most commonly occurring congenital structural forebrain anomaly in humans. HPE is associated with mental retardation and craniofacial malformations. Considerable heterogeneity in the genetic causes of HPE has been demonstrated (Ming et al., 2002). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Arthrogryposis-severe scoliosis syndrome
MedGen UID:
373169
Concept ID:
C1836756
Disease or Syndrome
Distal arthrogryposis type 4 (DA4) is distinguished by the presence of scoliosis (summary by Bamshad et al., 2009). For a phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (108120).
Peroxisome biogenesis disorder 12A (Zellweger)
MedGen UID:
766916
Concept ID:
C3554002
Disease or Syndrome
Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 14 (CG14, equivalent to CGJ) have mutations in the PEX19 gene. For information on the history of PBD complementation groups, see 214100.
Linear nevus sebaceous syndrome
MedGen UID:
1646345
Concept ID:
C4552097
Disease or Syndrome
Schimmelpenning-Feuerstein-Mims syndrome, also known as linear sebaceous nevus syndrome, is characterized by sebaceous nevi, often on the face, associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects (summary by Happle, 1991 and Ernst et al., 2007). The linear sebaceous nevi follow the lines of Blaschko (Hornstein and Knickenberg, 1974; Bouwes Bavinck and van de Kamp, 1985). All cases are sporadic. The syndrome is believed to be caused by an autosomal dominant lethal mutation that survives by somatic mosaicism (Gorlin et al., 2001).

Professional guidelines

PubMed

Wang X, Li G, Li Q, You C
Neurol India 2013 Sep-Oct;61(5):497-500. doi: 10.4103/0028-3886.121918. PMID: 24262452
Laughlin J, Luerssen TG, Dias MS; Committee on Practice and Ambulatory Medicine, Section on Neurological Surgery
Pediatrics 2011 Dec;128(6):1236-41. Epub 2011 Nov 28 doi: 10.1542/peds.2011-2220. PMID: 22123884
Hansen M, Mulliken JB
Clin Plast Surg 1994 Oct;21(4):543-53. PMID: 7813154

Recent clinical studies

Etiology

Whitsell N, Meyer L
S D Med 2021 Feb;74(2):83-88. PMID: 34161690
Pastor-Pons I, Lucha-López MO, Barrau-Lalmolda M, Rodes-Pastor I, Rodríguez-Fernández ÁL, Hidalgo-García C, Tricás-Moreno JM
Ital J Pediatr 2021 Jun 5;47(1):132. doi: 10.1186/s13052-021-01079-4. PMID: 34090515Free PMC Article
Hsieh CT, Huang CT, Chen YH, Sun JM
Neurosciences (Riyadh) 2020 Jul;25(3):205-209. doi: 10.17712/nsj.2020.3.20190125. PMID: 32683401Free PMC Article
Lee MC, Hwang J, Kim YO, Shim KW, Park EK, Lew DH, Yun IS
Childs Nerv Syst 2015 Jul;31(7):1113-20. Epub 2015 Mar 15 doi: 10.1007/s00381-015-2677-7. PMID: 25771922
Sergueef N, Nelson KE, Glonek T
Complement Ther Clin Pract 2006 May;12(2):101-10. Epub 2006 Mar 29 doi: 10.1016/j.ctcp.2005.11.001. PMID: 16648087

Diagnosis

Grieb J, Barbero-García I, Lerma JL
Sci Rep 2022 Jan 7;12(1):167. doi: 10.1038/s41598-021-04181-z. PMID: 34997100Free PMC Article
Whitsell N, Meyer L
S D Med 2021 Feb;74(2):83-88. PMID: 34161690
Zachry AH, Nolan VG, Hand SB, Klemm SA
Matern Child Health J 2017 Dec;21(12):2229-2236. doi: 10.1007/s10995-017-2344-6. PMID: 28725930
Di Rocco C, Paternoster G, Caldarelli M, Massimi L, Tamburrini G
Childs Nerv Syst 2012 Sep;28(9):1413-22. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1845-2. PMID: 22872257
Gawel J, Schwartz RA, Józwiak S
J Cutan Med Surg 2003 Jan-Feb;7(1):61-5. Epub 2002 Oct 9 doi: 10.1007/s10227-002-1142-x. PMID: 12362260

Therapy

Pastor-Pons I, Lucha-López MO, Barrau-Lalmolda M, Rodes-Pastor I, Rodríguez-Fernández ÁL, Hidalgo-García C, Tricás-Moreno JM
Ital J Pediatr 2021 Jun 5;47(1):132. doi: 10.1186/s13052-021-01079-4. PMID: 34090515Free PMC Article
Cabrera-Martos I, Ortigosa-Gómez SJ, López-López L, Ortiz-Rubio A, Torres-Sánchez I, Granados-Santiago M, Valenza MC
Phys Ther 2021 Aug 1;101(8) doi: 10.1093/ptj/pzab106. PMID: 33792712
Parnell Prevost C, Gleberzon B, Carleo B, Anderson K, Cark M, Pohlman KA
BMC Complement Altern Med 2019 Mar 13;19(1):60. doi: 10.1186/s12906-019-2447-2. PMID: 30866915Free PMC Article
Lee MC, Hwang J, Kim YO, Shim KW, Park EK, Lew DH, Yun IS
Childs Nerv Syst 2015 Jul;31(7):1113-20. Epub 2015 Mar 15 doi: 10.1007/s00381-015-2677-7. PMID: 25771922
Sergueef N, Nelson KE, Glonek T
Complement Ther Clin Pract 2006 May;12(2):101-10. Epub 2006 Mar 29 doi: 10.1016/j.ctcp.2005.11.001. PMID: 16648087

Prognosis

Grieb J, Barbero-García I, Lerma JL
Sci Rep 2022 Jan 7;12(1):167. doi: 10.1038/s41598-021-04181-z. PMID: 34997100Free PMC Article
Hsieh CT, Huang CT, Chen YH, Sun JM
Neurosciences (Riyadh) 2020 Jul;25(3):205-209. doi: 10.17712/nsj.2020.3.20190125. PMID: 32683401Free PMC Article
Zachry AH, Nolan VG, Hand SB, Klemm SA
Matern Child Health J 2017 Dec;21(12):2229-2236. doi: 10.1007/s10995-017-2344-6. PMID: 28725930
Di Rocco C, Paternoster G, Caldarelli M, Massimi L, Tamburrini G
Childs Nerv Syst 2012 Sep;28(9):1413-22. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1845-2. PMID: 22872257
Gawel J, Schwartz RA, Józwiak S
J Cutan Med Surg 2003 Jan-Feb;7(1):61-5. Epub 2002 Oct 9 doi: 10.1007/s10227-002-1142-x. PMID: 12362260

Clinical prediction guides

Grieb J, Barbero-García I, Lerma JL
Sci Rep 2022 Jan 7;12(1):167. doi: 10.1038/s41598-021-04181-z. PMID: 34997100Free PMC Article
Whitsell N, Meyer L
S D Med 2021 Feb;74(2):83-88. PMID: 34161690
Hsieh CT, Huang CT, Chen YH, Sun JM
Neurosciences (Riyadh) 2020 Jul;25(3):205-209. doi: 10.17712/nsj.2020.3.20190125. PMID: 32683401Free PMC Article
Zachry AH, Nolan VG, Hand SB, Klemm SA
Matern Child Health J 2017 Dec;21(12):2229-2236. doi: 10.1007/s10995-017-2344-6. PMID: 28725930
Di Rocco C, Paternoster G, Caldarelli M, Massimi L, Tamburrini G
Childs Nerv Syst 2012 Sep;28(9):1413-22. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1845-2. PMID: 22872257

Recent systematic reviews

Cabrera-Martos I, Ortigosa-Gómez SJ, López-López L, Ortiz-Rubio A, Torres-Sánchez I, Granados-Santiago M, Valenza MC
Phys Ther 2021 Aug 1;101(8) doi: 10.1093/ptj/pzab106. PMID: 33792712
Parnell Prevost C, Gleberzon B, Carleo B, Anderson K, Cark M, Pohlman KA
BMC Complement Altern Med 2019 Mar 13;19(1):60. doi: 10.1186/s12906-019-2447-2. PMID: 30866915Free PMC Article

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