Disease #05753 (EDSMC (Ehlers-Danlos, musculocontractural syndrome (EDSMC)))

Official abbreviation EDSMC
Name Ehlers-Danlos, musculocontractural syndrome (EDSMC)
OMIM ID -
Inheritance -
Individuals reported having this disease 13
Phenotype entries for this disease 1
Associated with 2 genes CHST14, DSE
Associated tissues -
Disease features -
Remarks -
Date created 2020-05-19 16:09:03 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00319464 Family 12 PubMed: Alazami 2016 There are two affected individuals in this family.The formal ID for this family is 12DG0445.The technique used was whole exome sequencing. - - Saudi Arabia - - - - - EDS, EDSMC skin and joint laxity, developmental delay, failure to thrive, short stature, dysmorphic features (wide forehead, severe malar hypoplasia, and saggy cheeks), strabismus, decreased hearing, easy bruising, scoliosis, bilateral TEV, arthrogryposis and decreased bone density CHST14 CHST14 1 2 Raymond Dalgleish
00319470 P1/I PubMed: Janecke et al., 2016 This family was first reported in PubMed: Steinmann et al., 1975. The patient has a sibling (P2/I) who also carries the variants and phenotype, and 2 healthy younger brothers. - - Pakistan Pakistani - - - - EDS, EDSMC - CHST14 CHST14 1 1 Raymond Dalgleish
00319472 - PubMed: Kono et al., 2016 - - - Japan Japanese - - - - EDS, EDSMC - CHST14 CHST14 2 1 Raymond Dalgleish
00319474 P3/II PubMed: Janecke et al., 2016 - - - - Hispanic - - - - EDS, EDSMC - CHST14 CHST14 1 1 Raymond Dalgleish
00319476 P6/IV PubMed: Janecke et al., 2016 The patient has an affected brother who also carries the same variants. Their parents are heterozygous for the variants. - - - Hispanic - - - - EDS, EDSMC - CHST14 CHST14 1 1 Raymond Dalgleish
00319477 Patient 1 PubMed: Mendoza-Londono et al., 2012 The patient has a sister who is also homozygous for the mutation. - - Afghanistan Afghani - - - - EDS, EDSMC - CHST14 CHST14 1 1 Raymond Dalgleish
00319486 P4/III PubMed: Janecke et al., 2016 The patient has a younger brother (P5/III) who also carries the variants and phenotype. Their mother was heterozygous for the variant, and DNA from the father was unavailable for analysis. - - - Hispanic - - - - EDS, EDSMC - CHST14 CHST14 1 1 Raymond Dalgleish
00319816 Patient 18 PubMed: Ranza 2017 The patient initially had an unknown clinical diagnosis, and was reclassified due to the discovery of the variants. The technique used was whole exome sequencing. - - Morocco Moroccan - - - - EDS, EDSMC see paper; ..., no intrauterine growth retadation; short stature (-2 SD); normal bone age; joint dislocations hips; hands thumbs adducti, long and tapering fingers; bilateral club foot, contractures, Swedish key appearance, wide metaphyses; large anterior fontanel; prominent forehead, blue sclerae, hypertelorism, downslanting palpebral fissures, depressed nasal bridge; intellectual disability DSE DSE 1 1 Raymond Dalgleish
00319817 Patient 1 PubMed: Lautrup 2020 The patient's urine sample was analysed, showing a lack of dermatan sulfate dissacharide. The patient was born of consanguineous parents. - - Turkey Turkish - - - - EDS, EDSMC - DSE DSE 1 1 Raymond Dalgleish
00319818 Patient 2 PubMed: Lautrup 2020 The patient has an older brother (Patient 3) who also carries the same variants and displays the phenotype. They were born of consanguineous parents. - - India Indian - - - - EDS, EDSMC - DSE DSE 1 1 Raymond Dalgleish
00319819 Patient 1 PubMed: Schirwani 2020 The variant is presumed to be a true homozygote, but sequencing of the patient's parents was not feasible. The technique used was whole exome sequencing. - - Portugal Portuguese - - - - EDS, EDSMC - DSE DSE 1 1 Raymond Dalgleish
00319820 Patient 2 PubMed: Schirwani 2020 The variant is predicted by in silico analysis to be damaging at a highly conserved amino acid, but there is no functional evidence. The technique used was the custom exome panel. - - Pakistan Pakistani - - - - EDS, EDSMC - DSE DSE 1 1 Raymond Dalgleish
00428047 1 PubMed: Sandal et al., 2018 - M yes India - - - - - EDSMC Bilateral hydronephrosis with bilateral pelviureteric junction obstruction (right >left). Facial dysmorphism, bilateral cryptorchidism. Bilateral talipes equinovarus. CHST14 CHST14 1 1 Oumaima Nehaili
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