National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Musculocontractural Ehlers-Danlos syndrome


Other Names:
Autosomal recessive adducted thumb-club foot syndrome; Adducted thumb clubfoot syndrome; Musculocontractural EDS; Autosomal recessive adducted thumb-club foot syndrome; Adducted thumb clubfoot syndrome; Musculocontractural EDS; mcEDS; Ehlers-Danlos syndrome, musculocontractural type See More
Categories:
This disease is grouped under:
Congenital disorder of glycosylation with developmental anomaly; Ehlers-Danlos syndromes
Adducted thumb and clubfoot syndrome (ATCS) is an autosomal recessive connective tissue disorder characterized by congenital malformations, contractures of thumbs and feet, a typical facial appearance, and normal cognitive development.[1][2] This condition is caused by mutations in the CHST14 gene.[2][3] 
Last updated: 6/3/2011
Adducted thumb-clubfoot syndrome is characterized by typical facial appearance, slight build, thin and translucent skin, severely adducted thumbs, arachnodactyly, clubfeet, joint instability, facial clefting, and coagulopathy, as well as heart, kidney, or intestinal defects.[1] Severe psychomotor and developmental delay and decreased muscle tone may also be present during infancy.[4] Cognitive development during childhood is normal.[2] 
Last updated: 1/30/2011

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
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HPO ID
80%-99% of people have these symptoms
Abnormality of the sternum
Sternal anomalies
0000766
Arthrogryposis multiplex congenita 0002804
Atrophic scars
Sunken or indented skin due to damage
0001075
Blue sclerae
Whites of eyes are a bluish-gray color
0000592
Bruising susceptibility
Bruise easily
Easy bruisability
Easy bruising
[ more ] 		0000978
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Decreased muscle mass 0003199
Decreased palmar creases
Shallow palm line
0006184
Delayed gross motor development
Delayed motor skills
0002194
Disproportionate tall stature 0001519
Downslanted palpebral fissures
Downward slanting of the opening between the eyelids
0000494
External ear malformation 0008572
Generalized joint laxity
Hypermobility of all joints
0002761
High palate
Elevated palate
Increased palatal height
[ more ] 		0000218
Hyperalgesia 0031005
Hyperextensible skin
Hyperelastic skin
Skin hyperelasticity
Stretchable skin
[ more ] 		0000974
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Large fontanelles
Wide fontanelles
0000239
Long philtrum 0000343
Low-set, posteriorly rotated ears 0000368
Macrotia
Large ears
0000400
Muscle weakness
Muscular weakness
0001324
Narrow mouth
Small mouth
0000160
Prominent nasolabial fold
Deep laugh lines
Deep smile lines
Prominent laugh lines
Prominent smile lines
[ more ] 		0005272
Protruding ear
Prominent ear
Prominent ears
[ more ] 		0000411
Recurrent joint dislocation 0031869
Short nose
Decreased length of nose
Shortened nose
[ more ] 		0003196
Slender finger
Narrow fingers
Slender fingers
thin fingers
[ more ] 		0001238
Thin upper lip vermilion
Thin upper lip
0000219
30%-79% of people have these symptoms
Astigmatism
Abnormal curving of the cornea or lens of the eye
0000483
Cervical kyphosis
Rounded neck
0002947
Constipation 0002019
Kyphoscoliosis 0002751
Microretrognathia
Small retruded chin
0000308
Myopathy
Muscle tissue disease
0003198
Myopia
Close sighted
Near sighted
Near sightedness
Nearsightedness
[ more ] 		0000545
Ocular hypertension
High eye pressure
0007906
Recurrent skin infections
Skin infections, recurrent
0001581
Redundant skin
Loose redundant skin
Redundant skin folds
Sagging, redundant skin
[ more ] 		0001582
Retinal detachment
Detached retina
0000541
Strabismus
Cross-eyed
Squint
Squint eyes
[ more ] 		0000486
Tapered finger
Tapered fingertips
Tapering fingers
[ more ] 		0001182
5%-29% of people have these symptoms
Abnormal heart valve morphology 0001654
Abnormality of mesentery morphology 0100016
Atlantoaxial dislocation 0003414
Cleft lip 0410030
Cleft palate
Cleft roof of mouth
0000175
Craniosynostosis 0001363
Functional abnormality of the bladder 0000009
Glaucoma 0000501
Hearing impairment
Deafness
Hearing defect
[ more ] 		0000365
Hydronephrosis 0000126
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Nephrolithiasis
Kidney stones
0000787
Pneumothorax
Collapsed lung
0002107
Ventriculomegaly 0002119
1%-4% of people have these symptoms
Horseshoe kidney
Horseshoe kidneys
0000085
Inguinal hernia 0000023
Malrotation of small bowel 0004794
Percent of people who have these symptoms is not available through HPO
Abnormal anterior chamber morphology 0000593
Abnormal facial shape
Unusual facial appearance
0001999
Abnormality of the duodenum 0002246
Abnormality of the mouth
Abnormal mouth
0000153
Adducted thumb
Inward turned thumb
0001181
Arachnodactyly
Long slender fingers
Spider fingers
[ more ] 		0001166
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Autosomal recessive inheritance 0000007
Brachycephaly
Short and broad skull
0000248
Broad forehead
Increased width of the forehead
Wide forehead
[ more ] 		0000337
Delayed cranial suture closure 0000270
Diastasis recti
Gap between large left and right abdominal muscles
0001540
Ecchymosis 0031364
Facial asymmetry
Asymmetry of face
Crooked face
Unsymmetrical face
[ more ] 		0000324
Flat forehead
Flattened forehead
0004425
Fragile skin
Skin fragility
0001030
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Global developmental delay 0001263
Hiatus hernia
Stomach hernia
0002036
Intestinal malrotation 0002566
Joint dislocation
Joint dislocations
Recurrent joint dislocations
[ more ] 		0001373
Microcornea
Cornea of eye less than 10mm in diameter
0000482
Motor delay 0001270
Nephrotic syndrome 0000100
Pectus excavatum
Funnel chest
0000767
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Scarring 0100699
Scoliosis 0002650
Talipes equinovarus
Club feet
Club foot
Clubfeet
Clubfoot
[ more ] 		0001762
Telecanthus
Corners of eye widely separated
0000506
Umbilical hernia 0001537
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Musculocontractural Ehlers-Danlos syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
  • The University of California San Francisco Limb Study is researching the genetic causes of limb malformations. They are looking for participants who only have problems with their limbs, such as fused or webbed fingers/toes, more than 5 fingers/toes, less than 5 fingers/toes, split hand and foot also called ectrodactyly, short fingers/toes, bent pinky fingers, extra long fingers, flexed fingers, club foot, etc. Visit the study’s website to learn more about who is eligible to take part in this study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Education Resources

  • The Genetics Education Materials for School Success (GEMSS) aims to assure that all children with genetic health conditions succeed in school-life. Their Web site offers general and condition-specific education resources to help teachers and parents better understand the needs of students who have genetic conditions.

Community Resources

  • The Job Accommodation Network (JAN) has information on workplace accommodations and disability employment issues related to this condition. JAN is a service of the Office of Disability Employment Policy in the U.S. Department of Labor.

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Musculocontractural Ehlers-Danlos syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • Do individuals with adducted thumb and clubfoot syndrome automatically have cognitive deficiencies?  Are there cases where normal intellectual abilities have been noted? See answer


  1. Dundar M, et al.. Am J Hum Genet. 2009; http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2790573/?tool=pubmed. Accessed 1/30/2011.
  2. Zhang L, Müller T, Baenziger JU, Janecke AR. Prog Mol Biol Transl Sci. 2010; http://www.ncbi.nlm.nih.gov/pubmed/20807649. Accessed 1/30/2011.
  3. Carbohydrate Sulfotransferase 14; CHST14. Online Mendelian Inheritance in Man (OMIM). 2010; http://www.ncbi.nlm.nih.gov/omim/608429. Accessed 1/30/2011.
  4. Robert-Gnansia E. Adducted thumbs-arthrogryposis, Dundar type. Orphanet. 2003; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=403&Disease_Disease_Search_diseaseGroup=Mevalonic-aciduria&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group%20of%20diseases=Mevalonic-aciduria&title=Mevalonic-aciduria&searc53. Accessed 1/30/2011.