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Posterior plagiocephaly

MedGen UID:
892298
Concept ID:
C4021160
Anatomical Abnormality
Synonyms: Deformational posterior plagiocephaly; Occipital plagiocephaly
 
HPO: HP:0011327

Definition

Asymmetry of the posterior part of the skull. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPosterior plagiocephaly

Conditions with this feature

ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder
MedGen UID:
862975
Concept ID:
C4014538
Disease or Syndrome
ADNP-related disorder is characterized by hypotonia, severe speech and motor delay, mild-to-severe intellectual disability, and characteristic facial features (prominent forehead, high anterior hairline, wide and depressed nasal bridge, and short nose with full, upturned nasal tip) based on a cohort of 78 individuals. Features of autism spectrum disorder are common (stereotypic behavior, impaired social interaction). Other common findings include additional behavioral problems, sleep disturbance, brain abnormalities, seizures, feeding issues, gastrointestinal problems, visual dysfunction (hypermetropia, strabismus, cortical visual impairment), musculoskeletal anomalies, endocrine issues including short stature and hormonal deficiencies, cardiac and urinary tract anomalies, and hearing loss.
Intellectual disability, autosomal dominant 53
MedGen UID:
1623344
Concept ID:
C4540481
Mental or Behavioral Dysfunction
Intellectual developmental disorder, autosomal dominant 67
MedGen UID:
1805690
Concept ID:
C5677006
Mental or Behavioral Dysfunction
Autosomal dominant intellectual developmental disorder-67 (MRD67) is characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood. Additional features may include behavioral abnormalities, such as autism spectrum disorder (ASD) and ADHD, as well as language and sleeping difficulties. Brain imaging is normal (Ismail et al., 2022).
Chilton-Okur-Chung neurodevelopmental syndrome
MedGen UID:
1803276
Concept ID:
C5677022
Disease or Syndrome
Chilton-Okur-Chung neurodevelopmental syndrome (CHOCNS) is characterized mainly by global developmental delay with variably impaired intellectual development and occasional speech delay. Most patients have behavioral abnormalities, including autism spectrum disorder, ADHD, and aggression. About half of patients have dysmorphic facial features, and about half have nonspecific brain abnormalities, including thin corpus callosum. Rare involvement of other organ systems may be present. At least 1 child with normal development at age 2.5 years has been reported (Chilton et al., 2020).
Developmental and epileptic encephalopathy 110
MedGen UID:
1824038
Concept ID:
C5774265
Disease or Syndrome
Developmental and epileptic encephalopathy-110 (DEE110) is an autosomal recessive disorder characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life. Affected individuals achieve almost no developmental milestones and show impaired intellectual development, poor or absent speech, inability to walk or grasp objects, peripheral spasticity, and poor eye contact. Brain imaging shows hypoplastic corpus callosum and cortical atrophy (Dahimene et al., 2022). For a discussion of genetic heterogeneity of DEE, see 308350.
Intellectual developmental disorder, autosomal dominant 71, with behavioral abnormalities
MedGen UID:
1841073
Concept ID:
C5830437
Mental or Behavioral Dysfunction
Autosomal dominant intellectual developmental disorder-71 with behavioral abnormalities (MRD71) is a neurodevelopmental disorder characterized by global developmental delay with hypotonia, speech delay, and variably impaired cognitive development. Almost all affected individuals show marked behavioral manifestations, including autism spectrum disorder (ASD), ADHD, hypersensitivity, and aggression. Many have dysmorphic features, although there is not a common gestalt (Harris et al., 2021).

Professional guidelines

PubMed

Marino S, Ruggieri M, Marino L, Falsaperla R
Childs Nerv Syst 2021 Dec;37(12):3715-3720. Epub 2021 Aug 28 doi: 10.1007/s00381-021-05324-3. PMID: 34453581Free PMC Article
Teichgraeber JF, Ault JK, Baumgartner J, Waller A, Messersmith M, Gateño J, Bravenec B, Xia J
Cleft Palate Craniofac J 2002 Nov;39(6):582-6. doi: 10.1597/1545-1569_2002_039_0582_dppdat_2.0.co_2. PMID: 12401104
Ellenbogen RG, Gruss JS, Cunningham ML
Clin Neurosurg 2000;47:303-18. PMID: 11197708

Recent clinical studies

Etiology

Marino S, Ruggieri M, Marino L, Falsaperla R
Childs Nerv Syst 2021 Dec;37(12):3715-3720. Epub 2021 Aug 28 doi: 10.1007/s00381-021-05324-3. PMID: 34453581Free PMC Article
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
Di Rocco F, Marchac A, Duracher C, Perié AC, Vergnaud E, Renier D, Arnaud E
Childs Nerv Syst 2012 Sep;28(9):1395-7. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1842-5. PMID: 22872254
Kalra R, Walker ML
Childs Nerv Syst 2012 Sep;28(9):1389-93. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1784-y. PMID: 22872253
David DJ, Menard RM
Br J Plast Surg 2000 Jul;53(5):367-77. doi: 10.1054/bjps.2000.3329. PMID: 10876272

Diagnosis

Marino S, Ruggieri M, Marino L, Falsaperla R
Childs Nerv Syst 2021 Dec;37(12):3715-3720. Epub 2021 Aug 28 doi: 10.1007/s00381-021-05324-3. PMID: 34453581Free PMC Article
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
Kalra R, Walker ML
Childs Nerv Syst 2012 Sep;28(9):1389-93. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1784-y. PMID: 22872253
Sze RW, Hopper RA, Ghioni V, Gruss JS, Ellenbogen RG, King D, Hing AV, Cunningham ML
AJR Am J Roentgenol 2005 Nov;185(5):1342-6. doi: 10.2214/AJR.04.1388. PMID: 16247160
David DJ, Menard RM
Br J Plast Surg 2000 Jul;53(5):367-77. doi: 10.1054/bjps.2000.3329. PMID: 10876272

Therapy

Esparza J, Hinojosa J, García-Recuero I, Romance A, Pascual B, Martínez de Aragón A
Neurocirugia (Astur) 2008 Dec;19(6):509-29. doi: 10.1016/s1130-1473(08)70201-x. PMID: 19112545
Rogers GF, Miller J, Mulliken JB
Plast Reconstr Surg 2008 Mar;121(3):941-947. doi: 10.1097/01.prs.0000299938.00229.3e. PMID: 18317143
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
Vles JS, Colla C, Weber JW, Beuls E, Wilmink J, Kingma H
J Craniofac Surg 2000 Nov;11(6):572-4. doi: 10.1097/00001665-200011060-00010. PMID: 11314498

Prognosis

Pennacchietti V, Schulz M, Tietze A, Schwarz K, Thomale UW
Childs Nerv Syst 2021 Oct;37(10):3199-3207. Epub 2021 Sep 16 doi: 10.1007/s00381-021-05355-w. PMID: 34529089Free PMC Article
Schulz M, Spors B, Haberl H, Thomale UW
Childs Nerv Syst 2014 Sep;30(9):1517-26. Epub 2014 Jun 11 doi: 10.1007/s00381-014-2462-z. PMID: 24917492
Di Rocco F, Marchac A, Duracher C, Perié AC, Vergnaud E, Renier D, Arnaud E
Childs Nerv Syst 2012 Sep;28(9):1395-7. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1842-5. PMID: 22872254
Teichgraeber JF, Ault JK, Baumgartner J, Waller A, Messersmith M, Gateño J, Bravenec B, Xia J
Cleft Palate Craniofac J 2002 Nov;39(6):582-6. doi: 10.1597/1545-1569_2002_039_0582_dppdat_2.0.co_2. PMID: 12401104
Pollack IF, Losken HW, Fasick P
Pediatrics 1997 Feb;99(2):180-5. doi: 10.1542/peds.99.2.180. PMID: 9024443

Clinical prediction guides

Pathmanaban ON, Burke KA, Leach P, Thorne J, Kamaly-Asl ID
World Neurosurg 2017 Jan;97:755.e11-755.e15. Epub 2016 Oct 15 doi: 10.1016/j.wneu.2016.10.027. PMID: 27756665
Schulz M, Spors B, Haberl H, Thomale UW
Childs Nerv Syst 2014 Sep;30(9):1517-26. Epub 2014 Jun 11 doi: 10.1007/s00381-014-2462-z. PMID: 24917492
Lattanzi W, Bukvic N, Barba M, Tamburrini G, Bernardini C, Michetti F, Di Rocco C
Childs Nerv Syst 2012 Sep;28(9):1301-10. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1781-1. PMID: 22872241
Korpilahti P, Saarinen P, Hukki J
Childs Nerv Syst 2012 Mar;28(3):419-25. Epub 2011 Nov 15 doi: 10.1007/s00381-011-1623-6. PMID: 22083136
Teichgraeber JF, Ault JK, Baumgartner J, Waller A, Messersmith M, Gateño J, Bravenec B, Xia J
Cleft Palate Craniofac J 2002 Nov;39(6):582-6. doi: 10.1597/1545-1569_2002_039_0582_dppdat_2.0.co_2. PMID: 12401104

Recent systematic reviews

Reardon T, Fiani B, Kosarchuk J, Parisi A, Shlobin NA
Pediatr Neurosurg 2022;57(1):1-16. Epub 2021 Dec 3 doi: 10.1159/000519175. PMID: 34864743
Marino S, Ruggieri M, Marino L, Falsaperla R
Childs Nerv Syst 2021 Dec;37(12):3715-3720. Epub 2021 Aug 28 doi: 10.1007/s00381-021-05324-3. PMID: 34453581Free PMC Article

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