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Microcephaly-microcornea syndrome, Seemanova type

MedGen UID:
419433
•Concept ID:
C2931524
•
Disease or Syndrome
Synonyms: Seemanova Lesny syndrome; X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation; X-linked microcephaly, microphthalmia, microcornea, congenital cataract, hypogenitalism, mental deficiency, growth retardation, spasticity
SNOMED CT: Microcephalus microcornea syndrome of Seemanova type (715464002); Microcephaly microcornea syndrome Seemanova type (715464002); Seemanova Lesny syndrome (715464002)
 
Monarch Initiative: MONDO:0016760
Orphanet: ORPHA2528

Definition

Extremely rare syndrome with features of microcephaly and brachycephaly, eye anomalies (microphthalmia, microcornea, congenital cataract), hypogenitalism, severe intellectual deficit, growth retardation and progressive spasticity. This syndrome is transmitted as an X-linked trait. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMicrocephaly-microcornea syndrome, Seemanova type

Professional guidelines

PubMed

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T Jr, Delépine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, Mégarbané A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S
J Med Genet 2002 Oct;39(10):722-33. doi: 10.1136/jmg.39.10.722. PMID: 12362029Free PMC Article

Recent clinical studies

Etiology

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB
Neurology 2008 Nov 11;71(20):1602-8. Epub 2008 Aug 20 doi: 10.1212/01.wnl.0000327822.52212.c7. PMID: 18716235
Impaired glycosylation and cutis laxa caused by mutations in the vesicular H+-ATPase subunit ATP6V0A2.
Kornak U, Reynders E, Dimopoulou A, van Reeuwijk J, Fischer B, Rajab A, Budde B, Nürnberg P, Foulquier F; ARCL Debré-type Study Group, Lefeber D, Urban Z, Gruenewald S, Annaert W, Brunner HG, van Bokhoven H, Wevers R, Morava E, Matthijs G, Van Maldergem L, Mundlos S
Nat Genet 2008 Jan;40(1):32-4. Epub 2007 Dec 23 doi: 10.1038/ng.2007.45. PMID: 18157129
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G
J Med Genet 2008 Apr;45(4):200-9. Epub 2007 Oct 26 doi: 10.1136/jmg.2007.053520. PMID: 17965227
Cancer risk of heterozygotes with the NBN founder mutation.
Seemanová E, Jarolim P, Seeman P, Varon R, Digweed M, Swift M, Sperling K
J Natl Cancer Inst 2007 Dec 19;99(24):1875-80. Epub 2007 Dec 11 doi: 10.1093/jnci/djm251. PMID: 18073374
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T Jr, Delépine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, Mégarbané A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S
J Med Genet 2002 Oct;39(10):722-33. doi: 10.1136/jmg.39.10.722. PMID: 12362029Free PMC Article

Diagnosis

Cancer risk of heterozygotes with the NBN founder mutation.
Seemanová E, Jarolim P, Seeman P, Varon R, Digweed M, Swift M, Sperling K
J Natl Cancer Inst 2007 Dec 19;99(24):1875-80. Epub 2007 Dec 11 doi: 10.1093/jnci/djm251. PMID: 18073374
Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy.
Van Maldergem L, Magré J, Khallouf TE, Gedde-Dahl T Jr, Delépine M, Trygstad O, Seemanova E, Stephenson T, Albott CS, Bonnici F, Panz VR, Medina JL, Bogalho P, Huet F, Savasta S, Verloes A, Robert JJ, Loret H, De Kerdanet M, Tubiana-Rufi N, Mégarbané A, Maassen J, Polak M, Lacombe D, Kahn CR, Silveira EL, D'Abronzo FH, Grigorescu F, Lathrop M, Capeau J, O'Rahilly S
J Med Genet 2002 Oct;39(10):722-33. doi: 10.1136/jmg.39.10.722. PMID: 12362029Free PMC Article
Autosomal dominant insulin resistance syndrome due to postbinding defect.
Seemanová E, Rüdiger HW, Dreyer M
Am J Med Genet 1992 Dec 1;44(6):705-12. doi: 10.1002/ajmg.1320440602. PMID: 1282780

Prognosis

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB
Neurology 2008 Nov 11;71(20):1602-8. Epub 2008 Aug 20 doi: 10.1212/01.wnl.0000327822.52212.c7. PMID: 18716235

Clinical prediction guides

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type.
Van Maldergem L, Yuksel-Apak M, Kayserili H, Seemanova E, Giurgea S, Basel-Vanagaite L, Leao-Teles E, Vigneron J, Foulon M, Greally M, Jaeken J, Mundlos S, Dobyns WB
Neurology 2008 Nov 11;71(20):1602-8. Epub 2008 Aug 20 doi: 10.1212/01.wnl.0000327822.52212.c7. PMID: 18716235
Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
Witsch-Baumgartner M, Schwentner I, Gruber M, Benlian P, Bertranpetit J, Bieth E, Chevy F, Clusellas N, Estivill X, Gasparini G, Giros M, Kelley RI, Krajewska-Walasek M, Menzel J, Miettinen T, Ogorelkova M, Rossi M, Scala I, Schinzel A, Schmidt K, Schönitzer D, Seemanova E, Sperling K, Syrrou M, Talmud PJ, Wollnik B, Krawczak M, Labuda D, Utermann G
J Med Genet 2008 Apr;45(4):200-9. Epub 2007 Oct 26 doi: 10.1136/jmg.2007.053520. PMID: 17965227
Cancer risk of heterozygotes with the NBN founder mutation.
Seemanová E, Jarolim P, Seeman P, Varon R, Digweed M, Swift M, Sperling K
J Natl Cancer Inst 2007 Dec 19;99(24):1875-80. Epub 2007 Dec 11 doi: 10.1093/jnci/djm251. PMID: 18073374

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