Ehlers-danlos syndrome, musculocontractural type, 1

Preferred Label : Ehlers-danlos syndrome, musculocontractural type, 1;

Symbol : EDSMC1;

CISMeF acronym : EDSMC; EDS6B; EDSMC1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Adducted thumb-clubfoot syndrome; Dundar syndrome; ATCS; EDS6B; Adducted thumb, clubfoot, and progressive joint and skin laxity syndrome; Ehlers-danlos syndrome, type vib; EDSMC; Arthrogryposis, distal, with peculiar facies and hydronephrosis;

Description : The Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders that share the common features of skin hyperextensibility, articular hypermobility, and tissue fragility (Beighton et al., 1998). The major characteristics of the musculocontractural form of EDS include distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement (summary by Malfait et al., 2010). - Genetic Heterogeneity of Musculocontractural Ehlers-Danlos Syndrome Ehlers-Danlos syndrome musculocontractural type 2 (EDSMC2; 615539) is caused by mutation in the DSE gene (605942) on chromosome 6q22.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the carbohydrate sulfotransferase-14 gene (CHST14, 608429.0001);

Prefixed ID : #601776;

Détails

Origin ID

601776;

UMLS CUI

C1866294;

Currated CISMeF NLP mapping
- Ehlers-Danlos Syndrome, Musculocontractural Type 1 [NCIt concept]
- Ehlers-Danlos Syndrome, musculocontractural type 1 [MeSH Supplementary Concept]
- Ehlers-Danlos Syndrome, musculocontractural type 1 [MeSH concept]
- Ehlers-Danlos syndrome musculocontractural type (disorder) [SNOMED CT concept]
- Ehlers-Danlos syndrome musculocontractural type 1 [DO Concept]
- Musculocontractural Ehlers-Danlos syndrome [ORDO Disease]
DO Cross reference
- Ehlers-Danlos syndrome musculocontractural type 1 [DO Concept]
False automatic mappings
- Timonacic [NCIt concept]
Genes related to phenotype
- Carbohydrate sulfotransferase 14 [OMIM gene]
HPO term(s)
- Abnormal anterior chamber morphology [HPO term]
- Abnormal duodenum morphology [HPO term]
- Abnormal facial shape [HPO term]
- Abnormality of the mouth [HPO term]
- Adducted thumb [HPO term]
- Arachnodactyly [HPO term]
- Arthrogryposis multiplex congenita [HPO term]
- Atrial septal defect [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blue sclerae [HPO term]
- Brachycephaly [HPO term]
- Broad forehead [HPO term]
- Bruising susceptibility [HPO term]
- Cleft palate [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Delayed cranial suture closure [HPO term]
- Diastasis recti [HPO term]
- Distal arthrogryposis [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dysesthesia [HPO term]
- Ecchymosis [HPO term]
- Facial asymmetry [HPO term]
- Flat forehead [HPO term]
- Fragile skin [HPO term]
- Generalized hypotonia [HPO term]
- Generalized joint laxity [HPO term]
- Glaucoma [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hiatus hernia [HPO term]
- High palate [HPO term]
- Hydronephrosis [HPO term]
- Hyperalgesia [HPO term]
- Hyperextensible skin [HPO term]
- Hypertelorism [HPO term]
- Hypotonia [HPO term]
- Intellectual disability [HPO term]
- Intestinal malrotation [HPO term]
- Joint dislocation [HPO term]
- Joint laxity [HPO term]
- Large fontanelles [HPO term]
- Long philtrum [HPO term]
- Microcornea [HPO term]
- Microretrognathia [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Narrow mouth [HPO term]
- Nephrotic syndrome [HPO term]
- Pectus excavatum [HPO term]
- Pneumothorax [HPO term]
- Posteriorly rotated ears [HPO term]
- Protruding ear [HPO term]
- Recurrent skin infections [HPO term]
- Retinal detachment [HPO term]
- Scarring [HPO term]
- Scoliosis [HPO term]
- Severely adducted thumbs [HPO term]
- Strabismus [HPO term]
- Talipes equinovarus [HPO term]
- Telecanthus [HPO term]
- Thin upper lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Musculocontractural Ehlers-Danlos syndrome [ORDO Disease]
See also inter- (CISMeF)
- ATM wt Allele [NCIt concept]
- Brittle cornea syndrome 1 [MeSH Supplementary Concept]
- Ehlers Danlos syndrome type VI B [Disease (Nov.)]
- brittle cornea syndrome [Disease (Nov.)]
- brittle cornea syndrome 1 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Ehlers-Danlos Syndrome, Musculocontractural Type 1 [NCIt concept]
- Ehlers-Danlos Syndrome, musculocontractural type 1 [MeSH Supplementary Concept]
- Ehlers-Danlos syndrome musculocontractural type (disorder) [SNOMED CT concept]
- Musculocontractural Ehlers-Danlos syndrome [ORDO Disease]

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