Dyggve-Melchior-Clausen Disease

Alternative Names

  • DMC

Associated Genes

Dymeclin
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

OMIM Number

223800

Mode of Inheritance

Autosomal recessive

Gene Map Locus

18q21.1

Description

Dyggve-Melchior-Clausen Disease (DMC) is part of a heterogeneous group of disorders called spondyloepimetaphyseal dysplasias, which consists of multiple disorders characterised by vertebral, epiphyseal and metaphyseal abnormalities. Other clinical features of DMC, a progressive disorder, include short trunk dwarfism, microcephaly, facial dysmorphism and severe psychomotor retardation. DMC is known to be caused by homozygous or compound heterozygous mutations in the Dymeclin (DYM) gene.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
223800.1MoroccoUnknownYes Postnatal growth retardation; Microceph...NM_017653.4:c.610C>THomozygousAutosomal, RecessiveEl Ghouzzi et al. 2003 Patient from Family ...
223800.2MoroccoUnknownYes Postnatal growth retardation; Abnormal ...NM_017653.6:c.1878delHomozygousAutosomal, RecessiveEl Ghouzzi et al. 2003 Patient from Family ...
223800.3LebanonUnknownNo Postnatal growth retardation; Microcep...NM_017653.4:c.1252-1G>AHomozygousAutosomal, RecessiveThauvin-Robinet et al. 2002; El Ghouzzi et al. 2003 Patient from Family ...
223800.4LebanonUnknownNo Short stature; Microcephaly; Scoliosis...NM_017653.4:c.1252-1G>AHomozygousAutosomal, RecessiveEl Ghouzzi et al. 2003 Patient from Family ...
223800.5.1LebanonMaleYesYes Disproportionate short-trunk short statu...NM_017653.5:c.194-1G>AHomozygousAutosomal, RecessiveNeumann et al, 2006
223800.5.2LebanonFemaleYesYes Global developmental delay ; Platyspond...NM_017653.5:c.194-1G>AHomozygousAutosomal, RecessiveNeumann et al, 2006 Sister of 223800.5.1
223800.6EgyptMaleYes Global developmental delay; Short statur...NM_017653.6:c.272C>GHomozygousAutosomal, RecessiveMaddirevula et al. 2018
223800.7EgyptFemaleYesYes Seizure ; Short stature; Brachydactyly; ...NM_017653.6:c.610C>THomozygousAutosomal, RecessiveMaddirevula et al. 2018
223800.8.1EgyptFemaleYesYes Short stature; Microcephaly; Generalized...NM_017653.6:c.610C>THomozygousAutosomal, RecessiveMaddirevula et al. 2018
223800.8.2EgyptMaleYesYes Short stature; Microcephaly; Generalized...NM_017653.6:c.610C>THomozygousAutosomal, RecessiveMaddirevula et al. 2018 Relative of 223800.8...
223800.9.1EgyptFemaleYesYes Failure to thrive; Intellectual disabili...NM_017653.6:c.1365+3_1365+10delHomozygousAutosomal, RecessiveMaddirevula et al. 2018
223800.9.2EgyptMaleYesYes Failure to thrive; Intellectual disabili...NM_017653.6:c.1365+3_1365+10delHomozygousAutosomal, RecessiveMaddirevula et al. 2018 Relative of 223800.9...
223800.10EgyptYesYes Intellectual disability; Short stature; ...NM_017653.6:c.946+1G>AHomozygousAutosomal, RecessiveMaddirevula et al. 2018
223800.11Saudi ArabiaMale Skeletal dysplasiaNM_017653.6:c.1282C>THomozygousAutosomal, RecessiveMaddirevula et al. 2018 Patient's parents ar...
223800.12EgyptMaleYesYes Intellectual disability; Abnormality of ...NM_017653.6:c.1878delHomozygousAutosomal, RecessiveMaddirevula et al. 2018
223801.13EgyptFemaleYes Intellectual disability; Abnormality of ...NM_017653.6:c.1878delHomozygousAutosomal, RecessiveMaddirevula et al. 2018
223801.14EgyptFemaleYesYes Intellectual disability; Abnormality of ...NM_017653.6:c.302G>AHomozygousAutosomal, RecessiveMaddirevula et al. 2018
223801.15EgyptMaleYesYes Intellectual disability; Abnormality of ...NM_017653.6:c.302G>AHomozygousAutosomal, RecessiveMaddirevula et al. 2018
223801.16EgyptFemaleYesYes Failure to thrive; Profound global devel...NM_017653.6:c.302G>AHomozygousAutosomal, RecessiveMaddirevula et al. 2018
223801.17EgyptFemaleYes Intellectual disability; Abnormality of ...NM_017653.6:c.1878delHomozygousAutosomal, RecessiveMaddirevula et al. 2018
223800.G.1MoroccoUnknownYes Short stature; Microcephaly; Scoliosis...NM_017653.4:c.1447C>THomozygousAutosomal, RecessiveEl Ghouzzi et al. 2003 2 patients from Fami...
223800.G.2MoroccoUnknownYes Postnatal growth retardation; Microceph...NM_017653.6:c.1878delHomozygousAutosomal, RecessiveEl Ghouzzi et al. 2003 3 patients from Fami...
223800.G.3MoroccoUnknownYes Postnatal growth retardation; Microceph...NM_017653.6:c.1878delHomozygousAutosomal, RecessiveEl Ghouzzi et al. 2003 2 patients from Fami...
223800.G.4MoroccoUnknownNo Postnatal growth retardation; Microcep...NM_017653.4:c.656T>G, NM_017653.6:c.1878delHeterozygousAutosomal, RecessiveEl Ghouzzi et al. 2003 2 patients from Fami...
223800.G.5MoroccoUnknownYes Postnatal growth retardation; Microcep...NM_017653.4:c.1125+1G>THomozygousAutosomal, RecessiveEl Ghouzzi et al. 2003 3 patients from Fami...
223800.G.6TunisiaUnknownYes Postnatal growth retardation; Microceph...NM_017653.4:c.580C>THomozygousAutosomal, RecessiveThauvin-Robinet et al. 2002; El Ghouzzi et al. 2003 2 patients from Fami...

Other Reports

Egypt

Hosny and Fabry (1998) reported a patient with Dyggve-Melchior-Clausen disease who underwent Chiari pelvic osteotomy to halt hip subluxation.

Lebanon

Multiple cases of Dyggve-Melchior-Clausen Disease (DMC) were reported in Lebanon by Afifi et al. (1974), Naffah and Taleb (1974), and Bonafede and Beighton (1978). Naffah (1976) observed that the DMC may have a relatively high frequency in Lebanon based on the number of cases reported.

Morocco

Dyggve-Melchior-Clausen disease was reported by Schorr et al. (1977) in six out of ten siblings from a Moroccan Jewish family.

Thauvin-Robinet et al. (2002) conducted genetic linkage analyses in 9 different famillies (7/9 consanguinous) with Dyggve-Melchior-Clausen disease from Morocco, Tunisia, Lebanon and Portugal, and mapped DMC gene to chromosome 18q21.1.

Palestine

Schorr et al. (1977) described two siblings from an Arab consanguineous family with Dyggve-Melchior-Clausen syndrome.

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