U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Occipital meningocele

MedGen UID:
336389
Concept ID:
C1848652
Disease or Syndrome; Finding
Synonym: Meningocele, occipital
SNOMED CT: Occipital meningocele (445468002)
 
HPO: HP:0002436

Definition

A herniation of meninges through a congenital bone defect in the skull in the occipital region. [from HPO]

Term Hierarchy

Conditions with this feature

Curry-Jones syndrome
MedGen UID:
167083
Concept ID:
C0795915
Disease or Syndrome
Curry-Jones syndrome (CRJS) is a multisystem disorder characterized by patchy skin lesions, polysyndactyly, diverse cerebral malformations, unicoronal craniosynostosis, iris colobomas, microphthalmia, and intestinal malrotation with myofibromas or hamartomas (summary by Twigg et al., 2016).
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).
Schinzel phocomelia syndrome
MedGen UID:
336388
Concept ID:
C1848651
Disease or Syndrome
The Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome (AARRS) is a rare autosomal recessive disorder characterized by severe malformations of upper and lower limbs with severely hypoplastic pelvis and abnormal genitalia. The disorder is believed to represent a defect of dorsoventral patterning and outgrowth of limbs (summary by Kantaputra et al., 2010).
Joubert syndrome with oculorenal defect
MedGen UID:
340930
Concept ID:
C1855675
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Orofaciodigital syndrome type 6
MedGen UID:
411200
Concept ID:
C2745997
Disease or Syndrome
Orofaciodigital syndrome type VI (OFD6), or Varadi syndrome, is a rare autosomal recessive disorder distinguished from other orofaciodigital syndromes by metacarpal abnormalities with central polydactyly and by cerebellar abnormalities, including the molar tooth sign (summary by Doss et al., 1998 and Lopez et al., 2014).
Short-rib thoracic dysplasia 14 with polydactyly
MedGen UID:
901479
Concept ID:
C4225286
Disease or Syndrome
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, 218330). For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (208500).
Knobloch syndrome 1
MedGen UID:
1642123
Concept ID:
C4551775
Disease or Syndrome
Knobloch syndrome-1 (KNO1) is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia (summary by Aldahmesh et al., 2011). Genetic Heterogeneity of Knobloch Syndrome KNO2 (618458) is caused by mutation in the PAK2 gene (605022) on chromosome 3q29.

Professional guidelines

PubMed

Pilu G, Romero R, De Palma L, Rizzo N, Jeanty P, Copel JA, Bovicelli L, Hobbins JC
J Reprod Med 1986 Nov;31(11):1017-22. PMID: 3543341

Recent clinical studies

Etiology

Das K, Alladi A, Kini U, Babu MK, D'Cruz AJ
Indian J Pediatr 2001 Sep;68(9):835-7. doi: 10.1007/BF02762106. PMID: 11669030
Groen RJ, van Ouwerkerk WJ
Childs Nerv Syst 1995 Jul;11(7):414-7. doi: 10.1007/BF00717408. PMID: 7585671
Pascual-Castroviejo I, Velez A, Pascual-Pascual SI, Roche MC, Villarejo F
Childs Nerv Syst 1991 Apr;7(2):88-97. doi: 10.1007/BF00247863. PMID: 1863935
Kulkarni ML, Mathew MA, Reddy V
Arch Dis Child 1989 Feb;64(2):201-4. doi: 10.1136/adc.64.2.201. PMID: 2930226Free PMC Article
Althouse R, Wald N
Arch Dis Child 1980 Nov;55(11):845-50. doi: 10.1136/adc.55.11.845. PMID: 7436454Free PMC Article

Diagnosis

Doddamani RS, Meena R, Sawarkar D, Singh P, Agrawal D, Singh M, Chandra PS
Neurol India 2021 Mar-Apr;69(2):446-450. doi: 10.4103/0028-3886.314585. PMID: 33904473
Paul L, Rupprich K, Della Marina A, Stein A, Elgizouli M, Kaiser FJ, Schweiger B, Köninger A, Iannaccone A, Hehr U, Kölbel H, Roos A, Schara-Schmidt U, Kuechler A
Orphanet J Rare Dis 2020 Sep 9;15(1):242. doi: 10.1186/s13023-020-01454-0. PMID: 32907597Free PMC Article
Mernagh JR, Mohide PT, Lappalainen RE, Fedoryshin JG
Radiographics 1999 Oct;19 Spec No:S229-41. doi: 10.1148/radiographics.19.suppl_1.g99oc21s229. PMID: 10517457
Bindal AK, Storrs BB, McLone DG
Neurosurgery 1991 Jun;28(6):844-7. doi: 10.1097/00006123-199106000-00009. PMID: 2067606
Pascual-Castroviejo I, Velez A, Pascual-Pascual SI, Roche MC, Villarejo F
Childs Nerv Syst 1991 Apr;7(2):88-97. doi: 10.1007/BF00247863. PMID: 1863935

Prognosis

Groen RJ, van Ouwerkerk WJ
Childs Nerv Syst 1995 Jul;11(7):414-7. doi: 10.1007/BF00717408. PMID: 7585671
Todo T, Usui M, Araki F
Neurol Med Chir (Tokyo) 1993 Dec;33(12):845-50. doi: 10.2176/nmc.33.845. PMID: 7512233
Pascual-Castroviejo I, Velez A, Pascual-Pascual SI, Roche MC, Villarejo F
Childs Nerv Syst 1991 Apr;7(2):88-97. doi: 10.1007/BF00247863. PMID: 1863935
Suzuki Y, Mimaki T, Tagawa T, Seino Y, Ohmichi M, Sugita N, Morimoto K, Yoshimine T
Pediatr Neurol 1989 May-Jun;5(3):191-3. doi: 10.1016/0887-8994(89)90071-4. PMID: 2662980
Althouse R, Wald N
Arch Dis Child 1980 Nov;55(11):845-50. doi: 10.1136/adc.55.11.845. PMID: 7436454Free PMC Article

Clinical prediction guides

Papadias A, Miller C, Martin WL, Kilby MD, Sgouros S
Childs Nerv Syst 2008 Feb;24(2):185-92. Epub 2007 Aug 21 doi: 10.1007/s00381-007-0452-0. PMID: 17710413
Arai M, Nosaka K, Kashihara K, Kaizaki Y
J Neurosurg 2004 May;100(5 Suppl Pediatrics):501-5. doi: 10.3171/ped.2004.100.5.0501. PMID: 15287463
Pascual-Castroviejo I, Velez A, Pascual-Pascual SI, Roche MC, Villarejo F
Childs Nerv Syst 1991 Apr;7(2):88-97. doi: 10.1007/BF00247863. PMID: 1863935

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...