KEGG DISEASE: Mandibulofacial dysostosis with microcephaly

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 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

Pathway

Spliceosome

Gene

EFTUD2 [HSA:9343] [KO:K12852]

Other DBs

ICD-11:

OMIM:

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

LinkDB

» Japanese version

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