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Calvarial skull defect

MedGen UID:
871299
Concept ID:
C4025787
Anatomical Abnormality
Synonyms: Calvarial defect; Cranial defect; Skull defect
 
HPO: HP:0001362

Definition

A localized defect in the bone of the skull resulting from abnormal embryological development. The defect is covered by normal skin. In some cases, skull x-rays have shown underlying lytic bone lesions which have closed before the age of one year. [from HPO]

Term Hierarchy

Conditions with this feature

Johanson-Blizzard syndrome
MedGen UID:
59798
Concept ID:
C0175692
Disease or Syndrome
Johanson-Blizzard syndrome is an autosomal recessive disorder characterized by poor growth, mental retardation, and variable dysmorphic features, including aplasia or hypoplasia of the nasal alae, abnormal hair patterns or scalp defects, and oligodontia. Other features include hypothyroidism, sensorineural hearing loss, imperforate anus, and pancreatic exocrine insufficiency (summary by Al-Dosari et al., 2008).
Charcot-Marie-Tooth peroneal muscular atrophy, X-linked, with aplasia cutis congenita
MedGen UID:
337105
Concept ID:
C1844864
Disease or Syndrome
Lethal Kniest-like syndrome
MedGen UID:
347372
Concept ID:
C1857100
Disease or Syndrome
Silverman-Handmaker dyssegmental dysplasia (DDSH) is a lethal autosomal recessive skeletal dysplasia with anisospondyly and micromelia. Individuals with DDSH also have a flat face, micrognathia, cleft palate and reduced joint mobility, and frequently have an encephalocele. The endochondral growth plate is short, the calcospherites (spherical calcium-phosphorus crystals produced by hypertrophic chondrocytes) are unfused, and there is mucoid degeneration of the resting cartilage (summary by Arikawa-Hirasawa et al., 2001).
Scalp-ear-nipple syndrome
MedGen UID:
357183
Concept ID:
C1867020
Disease or Syndrome
Scalp-ear-nipple syndrome is characterized by aplasia cutis congenita of the scalp, breast anomalies that range from hypothelia or athelia to amastia, and minor anomalies of the external ears. Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations. Penetrance appears to be high, although there is substantial variable expressivity within families (Marneros et al., 2013).
Frontonasal dysplasia with alopecia and genital anomaly
MedGen UID:
462053
Concept ID:
C3150703
Disease or Syndrome
Frontonasal dysplasia-2 (FND2) is an autosomal recessive disorder characterized by variable degrees of alopecia, skull defects, hypertelorism, depressed nasal bridge and ridge with notched alae nasi, and abnormal central nervous system findings (summary by Kariminejad et al., 2014).
Adams-Oliver syndrome 6
MedGen UID:
908556
Concept ID:
C4225271
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.
Acrofacial dysostosis Cincinnati type
MedGen UID:
903483
Concept ID:
C4225317
Disease or Syndrome
The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). In addition, a significant number of neurologic abnormalities have been reported, ranging from mild delays to refractory epilepsy, as well as an increased incidence of congenital heart defects, primarily septal in nature (Smallwood et al., 2023).
Fraser syndrome 1
MedGen UID:
1639061
Concept ID:
C4551480
Disease or Syndrome
Fraser syndrome is an autosomal recessive malformation disorder characterized by cryptophthalmos, syndactyly, and abnormalities of the respiratory and urogenital tract (summary by van Haelst et al., 2008). Genetic Heterogeneity of Fraser Syndrome Fraser syndrome-2 (FRASRS2) is caused by mutation in the FREM2 gene (608945) on chromosome 13q13, and Fraser syndrome-3 (FRASRS3; 617667) is caused by mutation in the GRIP1 gene (604597) on chromosome 12q14. See Bowen syndrome (211200) for a comparable but probably distinct syndrome of multiple congenital malformations.
Adams-Oliver syndrome 1
MedGen UID:
1635567
Concept ID:
C4551482
Disease or Syndrome
Adams-Oliver syndrome (AOS) is characterized by aplasia cutis congenita (ACC) of the scalp and terminal transverse limb defects (TTLD). ACC lesions usually occur in the midline of the parietal or occipital regions, but can also occur on the abdomen or limbs. At birth, an ACC lesion may already have the appearance of a healed scar. ACC lesions less than 5 cm often involve only the skin and almost always heal over a period of months; larger lesions are more likely to involve the skull and possibly the dura, and are at greater risk for complications, which can include infection, hemorrhage, or thrombosis, and can result in death. The limb defects range from mild (unilateral or bilateral short distal phalanges) to severe (complete absence of all toes or fingers, feet or hands, or more, often resembling an amputation). The lower extremities are almost always more severely affected than the upper extremities. Additional major features frequently include cardiovascular malformations/dysfunction (23%), brain anomalies, and less frequently renal, liver, and eye anomalies.

Professional guidelines

PubMed

Xin X, Jiang X, Wang L, Mikael P, McCarthy MB, Chen L, Mazzocca AD, Nukavarapu S, Lichtler AC, Rowe DW
J Histochem Cytochem 2019 Jun;67(6):401-417. Epub 2019 Mar 8 doi: 10.1369/0022155419836436. PMID: 30848692Free PMC Article
Dobbs TD, Salahuddin O, Jayamohan J, Richards P, Magdum S, Wall SA, Johnson D
Plast Reconstr Surg 2017 Jun;139(6):1325e-1332e. doi: 10.1097/PRS.0000000000003371. PMID: 28538575
Uygur S, Eryilmaz T, Cukurluoglu O, Ozmen S, Yavuzer R
J Craniofac Surg 2013 Sep;24(5):1606-9. doi: 10.1097/SCS.0b013e3182a2101c. PMID: 24036736

Recent clinical studies

Etiology

Rochlin DH, Mittermiller PA, DeMitchell-Rodriguez E, Weiss H, Dastagirzada Y, Patel V, Hagiwara M, Flores R, Sen C, Staffenberg DA
J Craniofac Surg 2023 Jan-Feb 01;34(1):e10-e15. Epub 2022 Aug 1 doi: 10.1097/SCS.0000000000008835. PMID: 36608087
Borad V, Cordes EJ, Liljeberg KM, Sylvanus TS, Lim PK, Wood RJ
J Craniofac Surg 2019 Nov-Dec;30(8):2390-2392. doi: 10.1097/SCS.0000000000006058. PMID: 31633668
Pasick CM, Margetis K, Santiago GF, Gordon C, Taub PJ
J Craniofac Surg 2019 Oct;30(7):2138-2143. doi: 10.1097/SCS.0000000000005659. PMID: 31478955
Governale LS
Pediatr Neurol 2015 Nov;53(5):394-401. Epub 2015 Jul 22 doi: 10.1016/j.pediatrneurol.2015.07.006. PMID: 26371995
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938

Diagnosis

Khodarahmi I, Alizai H, Chalian M, Alaia EF, Burke CJ, Slasky SE, Wenokor C
Radiographics 2021 Jul-Aug;41(4):1144-1163. doi: 10.1148/rg.2021200198. PMID: 34197249
Sarioglu FC, Sarioglu O, Guleryuz H
Pediatr Radiol 2020 Nov;50(12):1669-1679. Epub 2020 Nov 2 doi: 10.1007/s00247-020-04841-8. PMID: 33135137
Borad V, Cordes EJ, Liljeberg KM, Sylvanus TS, Lim PK, Wood RJ
J Craniofac Surg 2019 Nov-Dec;30(8):2390-2392. doi: 10.1097/SCS.0000000000006058. PMID: 31633668
Governale LS
Pediatr Neurol 2015 Nov;53(5):394-401. Epub 2015 Jul 22 doi: 10.1016/j.pediatrneurol.2015.07.006. PMID: 26371995
Hawasli AH, Beaumont TL, Vogel TW, Woo AS, Leonard JR
J Neurosurg Pediatr 2014 Aug;14(2):200-2. Epub 2014 Jun 13 doi: 10.3171/2014.5.PEDS13688. PMID: 24926969

Therapy

Ribeiro LM, Bhindi N, Fox C, Ramakrishnan A
J Plast Reconstr Aesthet Surg 2024 Jun;93:18-23. Epub 2024 Mar 26 doi: 10.1016/j.bjps.2024.03.009. PMID: 38608533
Pasick CM, Margetis K, Santiago GF, Gordon C, Taub PJ
J Craniofac Surg 2019 Oct;30(7):2138-2143. doi: 10.1097/SCS.0000000000005659. PMID: 31478955
Le BQ, Rai B, Hui Lim ZX, Tan TC, Lin T, Lin Lee JJ, Murali S, Teoh SH, Nurcombe V, Cool SM
J Craniomaxillofac Surg 2019 Feb;47(2):341-348. Epub 2018 Nov 16 doi: 10.1016/j.jcms.2018.11.013. PMID: 30579746
Williams L, Fan K, Bentley R
J Craniomaxillofac Surg 2016 Jul;44(7):789-94. Epub 2016 Apr 4 doi: 10.1016/j.jcms.2016.03.010. PMID: 27174495
Harris DA, Fong AJ, Buchanan EP, Monson L, Khechoyan D, Lam S
Neurosurg Focus 2014 Apr;36(4):E20. doi: 10.3171/2014.2.FOCUS13560. PMID: 24684333

Prognosis

Meyers A, Krebs J, Xia T, Kshettry VR, Angelov L, Nagel S, Rampazzo A, Bassiri Gharb B
Ann Plast Surg 2023 Aug 1;91(2):225-231. Epub 2023 Jun 1 doi: 10.1097/SAP.0000000000003564. PMID: 37347201
Vehapoglu A
Med Princ Pract 2022;31(2):125-132. Epub 2021 Dec 7 doi: 10.1159/000521359. PMID: 34875653Free PMC Article
Williams L, Fan K, Bentley R
J Craniomaxillofac Surg 2016 Jul;44(7):789-94. Epub 2016 Apr 4 doi: 10.1016/j.jcms.2016.03.010. PMID: 27174495
Noordzij N, Brouwer R, van der Horst C
J Craniofac Surg 2016 Jan;27(1):e105-8. doi: 10.1097/SCS.0000000000002319. PMID: 26745196
Tessier P, Ciminello FS, Wolfe SA
Scand J Plast Reconstr Surg Hand Surg 2009;43(4):177-96. doi: 10.1080/02844310802517259. PMID: 19401938

Clinical prediction guides

Meyers A, Krebs J, Xia T, Kshettry VR, Angelov L, Nagel S, Rampazzo A, Bassiri Gharb B
Ann Plast Surg 2023 Aug 1;91(2):225-231. Epub 2023 Jun 1 doi: 10.1097/SAP.0000000000003564. PMID: 37347201
Vehapoglu A
Med Princ Pract 2022;31(2):125-132. Epub 2021 Dec 7 doi: 10.1159/000521359. PMID: 34875653Free PMC Article
Johnson DR, Carr CM, Luetmer PH, Diehn FE, Lehman VT, Cutsforth-Gregory JK, Verdoorn JT, Krecke KN
World Neurosurg 2021 Feb;146:e848-e853. Epub 2020 Nov 18 doi: 10.1016/j.wneu.2020.11.066. PMID: 33220476
Nikolova S, Toneva D, Lazarov N
Anat Sci Int 2021 Jan;96(1):42-54. Epub 2020 Jun 26 doi: 10.1007/s12565-020-00555-x. PMID: 32591992
Al-Khawaja D, Murali R, Sindler P
J Clin Neurosci 2007 Dec;14(12):1235-9. Epub 2007 Oct 10 doi: 10.1016/j.jocn.2006.08.010. PMID: 17931869

Recent systematic reviews

Alexiou GA, Lampros M, Gavra MM, Vlachos N, Ydreos J, Boviatsis EJ
World Neurosurg 2022 Aug;164:323-329. Epub 2022 May 30 doi: 10.1016/j.wneu.2022.05.107. PMID: 35654328
Torres-Guzman RA, Huayllani MT, Avila FR, Maita K, Zubair AC, Quinones-Hinojosa A, Sarabia-Estrada R, Forte AJ
J Craniofac Surg 2022 Jan-Feb 01;33(1):360-363. doi: 10.1097/SCS.0000000000008114. PMID: 34636755
Hassan MN, Yassin MA, Suliman S, Lie SA, Gjengedal H, Mustafa K
Acta Biomater 2019 Jun;91:1-23. Epub 2019 Apr 11 doi: 10.1016/j.actbio.2019.04.017. PMID: 30980937
Zeng JH, Qiu P, Xiong L, Liu SW, Ding LH, Xiong SL, Li JT, Xiao ZB, Zhang T
Int J Artif Organs 2019 Jul;42(7):325-337. Epub 2019 Mar 25 doi: 10.1177/0391398819834944. PMID: 30905250
Shanbhag S, Pandis N, Mustafa K, Nyengaard JR, Stavropoulos A
Tissue Eng Part B Rev 2017 Apr;23(2):101-117. Epub 2016 Nov 1 doi: 10.1089/ten.TEB.2016.0283. PMID: 27733094

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