Ehlers-Danlos syndrome, Musculocontractural Type 1 (EDSMC1)

* This composite image of Ehlers-Danlos Syndrome, Musculocontractural Type 1; EDSMC1 was created to help geneticists get a better analysis

What is Ehlers-Danlos syndrome, Musculocontractural Type 1(EDSMC1)?

Ehlers-Danlos syndrome, Musculocontractural Type 1, also known as adducted thumb clubfoot syndrome, a rare disease is an inherited, connective tissue disorder.

It affects multiple parts of the body, including the face, internal organs, and developmental delay of an individual.

Syndrome Synonyms:
Adducted thumb, clubfoot syndrome; Adducted Thumb-clubfoot Syndrome; ATCS Adducted Thumb, Clubfoot, and Progressive Joint and Skin Laxity Syndrome; Arthrogryposis, Distal, with Peculiar Facies and Hydronephrosis; Dermatan sulfate-deficient adducted thumb-clubfoot syndrome; Dundar Syndrome; EDS-musculocontractural; EDSMC Ehlers-Danlos Syndrome, Type VIb, Formerly; EDS6B, Formerly

Causes

Mutation of the CHSTI4 gene is responsible for adducted thumb clubfoot syndrome. It is inherited in an autosomal recessive pattern. However, the other 22 genes associated to other types of Ehlers-Danlos and similar diagnoses, should always be considered.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.

What are the main symptoms of Ehlers-Danlos syndrome, Musculocontractural Type 1 (EDSMC1)?

  • The main physical symptoms include a slight build, thin skin, and easy bruising.
  • Unique facial features of the syndrome include wide-set eyes, large ears, and a small mouth with elevated palate.
  • Joint hypermobility and contractures of the thumb and feet are also common. As are clubfeet.
  • In infancy, many individuals will experience decreased muscle tone, and delay relating to their psychomotor development. However, the syndrome has no impact on cognitive ability or development.
  • The syndrome may also cause heart, kidney, and intestinal defects which vary in severity between individuals.

Possible clinical traits/features:
Microretrognathia, Pectus excavatum, Long philtrum, Muscular hypotonia, Intestinal malrotation, Intellectual disability, Joint laxity, Large fontanelles, Joint dislocation, Myopia, Narrow mouth, Atrial septal defect, Arachnodactyly, Bruising susceptibility, Adducted thumb, Cleft palate, Brachycephaly, Blue sclerae, Abnormal anterior chamber morphology, Abnormality of the duodenum, Scarring, Thin upper lip vermilion, Umbilical hernia, Recurrent skin infections, Strabismus, Telecanthus, Talipes equinovarus, Scoliosis, Cryptorchidism, Arthrogryposis multiplex congenita, Microcornea, Ventriculomegaly, Distal arthrogryposis, Diastasis recti, Facial asymmetry, Flat forehead, Constipation, Retinal detachment, Downslanted palpebral fissures, Motor delay, Delayed cranial suture closure, Autosomal recessive inheritance, Protruding ear, Pneumothorax, Posteriorly rotated ears, Hearing impairment, Global developmental delay, Fragile skin, Glaucoma, Generalized joint laxity, Hydronephrosis, High palate, Hyperextensible skin.

How is it diagnosed?

To find out if someone has a diagnosis of Ehlers-Danlos syndrome, Musculocontractural Type 1 (EDSMC1), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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* This composite image of Ehlers-Danlos Syndrome, Musculocontractural Type 1; EDSMC1 was created to help geneticists get a better analysis

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