KEGG   DISEASE: Mandibulofacial dysostosis with microcephaly
Entry
H01838                      Disease                                
Name
Mandibulofacial dysostosis with microcephaly;
Mandibulofacial dysostosis, Guion-Almeida type
Description
Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant congenital anomaly syndrome. Affected patients have been primarily described as presenting with microcephaly, midface hypoplasia, micrognathia, characteristic external ear abnormalities, and significant global developmental delay. In addition, several affected individuals have also presented with delayed brain myelination and abnormal white matter on magnetic resonance imaging (MRI), choanal and aural atresia, cleft palate, congenital heart defects, bilateral hearing loss, cryptorchidism, proximally placed thumbs, and expressive language delay. Haploinsufficiency of a spliceosomal GTPase, EFTUD2, is responsible.
Category
Congenital malformation
Brite
Human diseases [BR:br08402]
 Congenital malformations
  Other congenital malformations
   H01838  Mandibulofacial dysostosis with microcephaly
Human diseases in ICD-11 classification [BR:br08403]
 20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H01838  Mandibulofacial dysostosis with microcephaly
Related
pathway
hsa03040  Spliceosome
Gene
EFTUD2 [HSA:9343] [KO:K12852]
Other DBs
ICD-11: LD2F.16
ICD-10: Q87.0
OMIM: 610536
Reference
  Authors
Guion-Almeida ML, Zechi-Ceide RM, Vendramini S, Tabith Junior A
  Title
A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate.
  Journal
Clin Dysmorphol 15:171-4 (2006)
DOI:10.1097/01.mcd.0000220603.09661.7e
Reference
  Authors
Gandomi SK, Parra M, Reeves D, Yap V, Gau CL
  Title
Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly.
  Journal
Clin Genet 87:80-4 (2015)
DOI:10.1111/cge.12328
Reference
  Authors
Matsuo M, Yamauchi A, Ito Y, Sakauchi M, Yamamoto T, Okamoto N, Tsurusaki Y, Miyake N, Matsumoto N, Saito K
  Title
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures.
  Journal
Brain Dev 39:177-181 (2017)
DOI:10.1016/j.braindev.2016.08.008
Reference
  Authors
Lines MA, Huang L, Schwartzentruber J, Douglas SL, Lynch DC, Beaulieu C, Guion-Almeida ML, Zechi-Ceide RM, Gener B, Gillessen-Kaesbach G, Nava C, Baujat G, Horn D, Kini U, Caliebe A, Alanay Y, Utine GE, Lev D, Kohlhase J, Grix AW, Lohmann DR, Hehr U, Bohm D, Majewski J, Bulman DE, Wieczorek D, Boycott KM
  Title
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly.
  Journal
Am J Hum Genet 90:369-77 (2012)
DOI:10.1016/j.ajhg.2011.12.023
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