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Lissencephaly type 3-metacarpal bone dysplasia syndrome

MedGen UID:
371379
Concept ID:
C1832678
Disease or Syndrome
Synonym: Lissencephaly type III and bone dysplasia
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).
 
Monarch Initiative: MONDO:0011004
OMIM®: 601160
Orphanet: ORPHA86822

Definition

This syndrome is characterised by severe microcephaly, agyria, agenesis of the corpus callosum, cerebellar hypoplasia, facial dysmorphology and epiphyseal stippling of the metacarpal bones. It has been described in two brothers. The syndrome is transmitted as an autosomal recessive trait and may be an allelic variant of Neu-Laxova syndrome and Lissencephaly type III with cystic dilations of the cerebellum and foetal akinesia sequence (see these terms). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLissencephaly type 3-metacarpal bone dysplasia syndrome
Follow this link to review classifications for Lissencephaly type 3-metacarpal bone dysplasia syndrome in Orphanet.

Recent clinical studies

Etiology

Juric-Sekhar G, Kapur RP, Glass IA, Murray ML, Parnell SE, Hevner RF
Acta Neuropathol 2011 Apr;121(4):545-54. Epub 2010 Sep 21 doi: 10.1007/s00401-010-0748-0. PMID: 20857301Free PMC Article

Diagnosis

Gupta A, Reddy C, Saini L, Yadav J, Kumar R, Houghton J, Ellard S, Dayal D
Pediatr Endocrinol Diabetes Metab 2021;27(4):287-290. doi: 10.5114/pedm.2021.107719. PMID: 34928108Free PMC Article

Prognosis

Gupta A, Reddy C, Saini L, Yadav J, Kumar R, Houghton J, Ellard S, Dayal D
Pediatr Endocrinol Diabetes Metab 2021;27(4):287-290. doi: 10.5114/pedm.2021.107719. PMID: 34928108Free PMC Article
Emes RD, Ponting CP
Hum Mol Genet 2001 Nov 15;10(24):2813-20. doi: 10.1093/hmg/10.24.2813. PMID: 11734546
Plauchu H, Encha-Razavi F, Hermier M, Attia-Sobol J, Vitrey D, Verloes A
Am J Med Genet 2001 Feb 15;99(1):14-20. doi: 10.1002/1096-8628(20010215)99:1<14::aid-ajmg1121>3.0.co;2-s. PMID: 11170088

Clinical prediction guides

Gupta A, Reddy C, Saini L, Yadav J, Kumar R, Houghton J, Ellard S, Dayal D
Pediatr Endocrinol Diabetes Metab 2021;27(4):287-290. doi: 10.5114/pedm.2021.107719. PMID: 34928108Free PMC Article
Juric-Sekhar G, Kapur RP, Glass IA, Murray ML, Parnell SE, Hevner RF
Acta Neuropathol 2011 Apr;121(4):545-54. Epub 2010 Sep 21 doi: 10.1007/s00401-010-0748-0. PMID: 20857301Free PMC Article
Emes RD, Ponting CP
Hum Mol Genet 2001 Nov 15;10(24):2813-20. doi: 10.1093/hmg/10.24.2813. PMID: 11734546

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