Synonym(s): - ATCS - Adducted thumb - clubfoot syndrome - Adducted thumbs - arthrogryposis, Dundar type - CHST14-related EDS - CHST14-related Ehlers-Danlos syndrome - D4ST1-deficient EDS - D4ST1-deficient Ehlers-Danlos syndrome - EDS, Kosho type - EDS, arthrogryposic type - EDS, musculocontractural type - Ehlers-Danlos syndrome, Kosho type - Ehlers-Danlos syndrome, arthrogryposic type
Classification (Orphanet): - Inborn errors of metabolism - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare renal disease - Rare skin disease - Rare surgical cardiac disease - Rare systemic or rheumatologic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 2 OMIM references - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
CHST14	Q8NCH0	608429
DSE	Q9UL01	605942

- Autosomal recessive inheritance
- Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large
- Downturned mouth
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Large fontanelle / delayed fontanelle closure
- Long hand / arachnodactyly
- Low set ears / posteriorly rotated ears
- Talipes-varus / metatarsal varus

- Atrial septal defect / interauricular communication
- Ectopic / horseshoe / fused kidneys
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Ventricular septal defect / interventricular communication