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Lethal occipital encephalocele-skeletal dysplasia syndrome(RHFCA)

MedGen UID:
482359
•Concept ID:
C3280729
•
Disease or Syndrome
Synonym: Radiohumeral fusions with other skeletal and craniofacial anomalies
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): CYP26B1 (2p13.2)
 
Monarch Initiative: MONDO:0013740
OMIM®: 614416
Orphanet: ORPHA293925

Definition

Lethal occipital encephalocele-skeletal dysplasia syndrome is a rare, genetic, bone development disorder characterized by occipital and parietal bone hypoplasia leading to occipital encephalocele, calvarial mineralization defects, craniosynostosis, radiohumeral fusions, oligodactyly and other skeletal anomalies (arachnodactyly, terminal phalangeal aplasia of the thumbs, bilateral absence of the great toes, pronounced bilateral angulation of femora, shortened limbs, advanced osseous maturation). Fetal death in utero is associated. [from ORDO]

Clinical features

From HPO
Arachnodactyly
MedGen UID:
2047
•Concept ID:
C0003706
•
Congenital Abnormality
Abnormally long and slender fingers (spider fingers).
See: Feature record | Search on this feature
Humeroradial synostosis
MedGen UID:
418931
•Concept ID:
C2930865
•
Disease or Syndrome
An abnormal osseous union (fusion) between the radius and the humerus.
See: Feature record | Search on this feature
Oligodactyly
MedGen UID:
854358
•Concept ID:
C3887496
•
Congenital Abnormality
A developmental defect resulting in the presence of fewer than the normal number of digits.
See: Feature record | Search on this feature
Occipital encephalocele
MedGen UID:
4935
•Concept ID:
C0014067
•
Congenital Abnormality
A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.
See: Feature record | Search on this feature
Craniosynostosis syndrome
MedGen UID:
1163
•Concept ID:
C0010278
•
Disease or Syndrome
Craniosynostosis refers to the premature closure of the cranial sutures. Primary craniosynostosis refers to the closure of one or more sutures due to abnormalities in skull development, and secondary craniosynostosis results from failure of brain growth.
See: Feature record | Search on this feature
Brachycephaly
MedGen UID:
113165
•Concept ID:
C0221356
•
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLethal occipital encephalocele-skeletal dysplasia syndrome
Follow this link to review classifications for Lethal occipital encephalocele-skeletal dysplasia syndrome in Orphanet.

Professional guidelines

PubMed

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C
Eur J Hum Genet 2015 Jun;23(6):746-52. Epub 2014 Sep 3 doi: 10.1038/ejhg.2014.174. PMID: 25182137Free PMC Article
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T
Hum Mutat 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116. PMID: 19777577Free PMC Article
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183

Recent clinical studies

Etiology

Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
Bruechle NO, Steuernagel P, Zerres K, Kurth I, Eggermann T, Knopp C
Pediatr Nephrol 2017 Oct;32(10):1989-1992. Epub 2017 Jun 15 doi: 10.1007/s00467-017-3710-8. PMID: 28620746
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Mougou-Zerelli S, Thomas S, Szenker E, Audollent S, Elkhartoufi N, Babarit C, Romano S, Salomon R, Amiel J, Esculpavit C, Gonzales M, Escudier E, Leheup B, Loget P, Odent S, Roume J, Gérard M, Delezoide AL, Khung S, Patrier S, Cordier MP, Bouvier R, Martinovic J, Gubler MC, Boddaert N, Munnich A, Encha-Razavi F, Valente EM, Saad A, Saunier S, Vekemans M, Attié-Bitach T
Hum Mutat 2009 Nov;30(11):1574-82. doi: 10.1002/humu.21116. PMID: 19777577Free PMC Article
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Génin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attié-Bitach T; SOFFOET (Société Française de Foetopathologie)
Hum Mutat 2007 May;28(5):523-4. doi: 10.1002/humu.9489. PMID: 17397051
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183
Short rib-polydactyly syndrome: a case report.
Türkmen M, Temoçin K, Acar C, Levi E, Karaman C, Inan G, Elçioğlu N
Turk J Pediatr 2003 Oct-Dec;45(4):359-62. PMID: 14768808

Diagnosis

Uniparental disomy as an unexpected cause of Meckel-Gruber syndrome: report of a case.
Bruechle NO, Steuernagel P, Zerres K, Kurth I, Eggermann T, Knopp C
Pediatr Nephrol 2017 Oct;32(10):1989-1992. Epub 2017 Jun 15 doi: 10.1007/s00467-017-3710-8. PMID: 28620746
Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C
Eur J Hum Genet 2015 Jun;23(6):746-52. Epub 2014 Sep 3 doi: 10.1038/ejhg.2014.174. PMID: 25182137Free PMC Article
Spine deformities in rare congenital syndromes: clinical issues.
Campbell RM Jr
Spine (Phila Pa 1976) 2009 Aug 1;34(17):1815-27. doi: 10.1097/BRS.0b013e3181ab64e9. PMID: 19644333
Meckel syndrome: genetics, perinatal findings, and differential diagnosis.
Chen CP
Taiwan J Obstet Gynecol 2007 Mar;46(1):9-14. doi: 10.1016/S1028-4559(08)60100-X. PMID: 17389183
The Meckel Syndrome. Pathological and cytogenetic observations in eight cases.
Moerman P, Verbeken E, Fryns JP, Goddeeris P, Lauweryns JM
Hum Genet 1982;62(3):240-5. doi: 10.1007/BF00333528. PMID: 6132872

Prognosis

Short rib-polydactyly syndrome: a case report.
Türkmen M, Temoçin K, Acar C, Levi E, Karaman C, Inan G, Elçioğlu N
Turk J Pediatr 2003 Oct-Dec;45(4):359-62. PMID: 14768808

Clinical prediction guides

Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe.
Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor MC, Bergman JE, Braz P, Draper ES, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A, Verellen-Dumoulin C
Eur J Hum Genet 2015 Jun;23(6):746-52. Epub 2014 Sep 3 doi: 10.1038/ejhg.2014.174. PMID: 25182137Free PMC Article
Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.
Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, Lyonnet S, Génin E, Le Merrer M, Munnich A, Gubler MC, Cox P, Macdonald F, Vekemans M, Johnson CA, Attié-Bitach T; SOFFOET (Société Française de Foetopathologie)
Hum Mutat 2007 May;28(5):523-4. doi: 10.1002/humu.9489. PMID: 17397051
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, Ozilou C, Faivre L, Laurent N, Foliguet B, Munnich A, Lyonnet S, Salomon R, Encha-Razavi F, Gubler MC, Boddaert N, de Lonlay P, Johnson CA, Vekemans M, Antignac C, Attie-Bitach T
Am J Hum Genet 2007 Jan;80(1):186-94. Epub 2006 Nov 15 doi: 10.1086/510499. PMID: 17160906Free PMC Article
A gene for Meckel syndrome maps to chromosome 11q13.
Roume J, Genin E, Cormier-Daire V, Ma HW, Mehaye B, Attie T, Razavi-Encha F, Fallet-Bianco C, Buenerd A, Clerget-Darpoux F, Munnich A, Le Merrer M
Am J Hum Genet 1998 Oct;63(4):1095-101. doi: 10.1086/302062. PMID: 9758620Free PMC Article
The Meckel Syndrome. Pathological and cytogenetic observations in eight cases.
Moerman P, Verbeken E, Fryns JP, Goddeeris P, Lauweryns JM
Hum Genet 1982;62(3):240-5. doi: 10.1007/BF00333528. PMID: 6132872

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