Rare Hematology News

Disease Profile

Musculocontractural Ehlers-Danlos syndrome

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

Q79.6

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

no.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

no.svg

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Autosomal recessive adducted thumb-club foot syndrome; Adducted thumb clubfoot syndrome; Musculocontractural EDS;

Categories

Congenital and Genetic Diseases; Heart Diseases; Kidney and Urinary Diseases;

Summary

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]

Symptoms

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]

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.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal sternum morphology
Abnormality of the sternum
Sternal anomalies

[ more ]

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

Organizations

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

    Learn more

    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.

      References

      1. Dundar M, et al.. Am J Hum Genet. 2009; https://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; https://www.ncbi.nlm.nih.gov/pubmed/20807649. Accessed 1/30/2011.
      3. Carbohydrate Sulfotransferase 14; CHST14. Online Mendelian Inheritance in Man (OMIM). 2010; https://www.ncbi.nlm.nih.gov/omim/608429. Accessed 1/30/2011.
      4. Robert-Gnansia E. Adducted thumbs-arthrogryposis, Dundar type. Orphanet. 2003; https://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.

      Rare Hematology News