Ehlers-Danlos syndrome, Musculocontractural Type 1 (EDSMC1)

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

Also known as adducted thumb clubfoot syndrome, this 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 ATCS D4ST1 Dermatan sulfate-deficient adducted thumb-clubfoot syndrome Dundar Syndrome EDS - musculocontractural Edsmc Ehlers-danlos Syndrome, Type Vib, Formerly; Eds6b, Formerly

What gene changes cause Ehlers-Danlos syndrome, Musculocontractural Type 1 (EDSMC1)?

Mutation of the CHSTI4 gene is responsible for adducted thumb clubfoot syndrome. It is inherited in an autosomal recessive pattern.

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 ski

How does someone get tested for Ehlers-Danlos syndrome, Musculocontractural Type 1 (EDSMC1)?

The initial testing for Ehlers-Danlos Syndrome, Musculocontractural Type 1 can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.

Medical information on Ehlers-Danlos syndrome, Musculocontractural Type 1 (EDSMC1)

The major features of the musculocontractural Type 1 form of Ehlers-Danlos syndrome include craniofacial dysmorphism, joint laxity, congenital contractures of distal joints, and ocular involvement. The syndrome is caused by mutations in the CHST14 gene, and inheritance is autosomal recessive.

Dundar et al., (1997) reported male and female cousins from a consanguineous Turkish pedigree, who had moderate-to-severe developmental delay. They had arachnodactyly with camptodactyly and adducted thumbs. There was also talipes equinovarus. There was a large anterior fontanelle, which closed late. There was also brachycephaly, a broad flat forehead, downslanting palpebral fissures, telecanthus and blue sclerae. The ears were prominent and posteriorly rotated. The neck was said to be short. There was reported to be joint laxity of the large joints.

Dundar et al., (2001) reported a further case. Detailed examination of the eye showed shallow anterior chambers with irregular displaced pupils and anterior synechiae. Intraocular pressures were high.

Janecke et al., (2001) reported two sibs with similar features. One sib was delivered at 32 weeks and died shortly after birth from respiratory failure. He had a large anterior fontanelle and sagittal craniosynostosis. Postmortem examination showed a large ASD and mild coarctation of the aorta, as well as a horseshoe kidney and a common mesentery. His brother had distal arthrogryposis but laxity of the major joints. There was a preauricular tag. Development was normal.

The authors provide a personal communication from Dundar to say that follow-up of his male patient at 7 years 2 months showed a normal IQ. It is not entirely certain whether all these children have the same condition. The cases of Dundar et al., (1997) had anterior chamber abnormalities, which were not present in the other cases.

Janecke et al., (2001) considers that the sibs reported by Dundar et al., (1997) and Sonoda and Kouno (2000) have the same condition.

A patient thought initially to have Marden-Walker was found to have a CHST14 mutation (Winters et al., 2012).

Malfait et al., (2010) have suggested that this condition is the same as Ehlers-Danlos type VIB - see elsewhere. However, Janecke et al., (2011) propose that they are different. Current wisdom is that this is the same as ED VIB, and the group as a whole should be called musculocontractural EDS (Mendoza-Londono et al., 2012)

The condition has been mapped and mutations detected in CHST14, which encodes N-acetylgalactosamine 4-O-sulfotransferase (Dundar et al., 2009).

Mizumoto et al., (2017) compared urinary dermatan sulfate levels in seven previously reported patients with Ehlers-Danlos musculocontractural type 1 and in healthy controls. Dermatan sulfate was not detected in the urine of patients with homozygous or compound heterozygous mutations in CHST14, suggesting that the quantification of dermatan sulfate in urine can be used for the initial diagnosis of this type of Ehlers-Danlos syndrome.

* This information is courtesy of the L M D.
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