Adducted Thumbs syndrome

What is Adducted Thumbs syndrome?

Adducted Thumbs syndrome is a rare disease. It is also known as Adducted thumbs syndrome.

Christian et al., (1971) described three infants from an inbred Amish pedigree and a further unrelated case with a distinctive syndrome consisting of adducted thumbs, craniosynostosis and severe neurological abnormalities. The three related children were two boys and one girl. They all died within eight months of life with seizures, apnoea, and respiratory infections. Striking dysmorphic features included prominent sutures, a prominent occiput, telecanthus, an antimongoloid eye slant, strabismus, a narrow, high, or cleft palate with a bifid uvula, posteriorly rotated ears, and micrognathia. There were multiple joint contractures of the large joints, but also of the index fingers, in addition to the adducted thumbs. Muscle bulk was reduced and the infants were hypotonic. Examination of the brain in one infant revealed calcified plaques over the surface of the gyri, but this may have been a fixation artifact. There was extensive glial proliferation in the white matter. The fourth, unrelated patient survived and, at the age of 19 months, was assessed to have an IQ of 90.
Kunze et al., (1983) reported a similar female infant who died at the age of 3 months. She had difficulty in swallowing with an ophthalmoplegia, hypotonia, and areflexia. There were multiple joint contractures with camptodactyly and adducted thumbs, but apparently no craniosynostosis. A muscle biopsy showed marked variation in fibre size with an increased number of central nuclei, and the findings were interpreted as indicative of a congenital myopathy.
Fitch and Levy (1975) reported a 3-year-old girl with adducted thumbs, microcephaly, ophthalmoplegia, a cleft palate and severe mental retardation. There was no craniosynostosis.
Moldavsky et al., (1997) reported a 1-year-old boy with microcephaly, hypotonia but increased reflexes, adducted thumbs, and swallowing abnormalities. An MRI scan at 15 months showed mild symmetrical enlargement of the lateral ventricles. This child could fall into the MASA spectrum, as not all cases have enlarged heads. The authors provide a review of Adducted Thumbs syndrome.
The cases reported in this syndrome group may be heterogeneous and care must be taken not to label all infants with joint contractures, adducted thumbs, and an unusual head shape with this diagnosis.

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* This information is courtesy of the L M D.

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What gene changes cause Adducted Thumbs syndrome?

The syndrome is inherited in the following inheritance pattern/s:

Autosomal Recessive - 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.

In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.

OMIM Number - 201550 (please check the OMIM page for updated information)

The syndrome can be caused by mutations in the following gene/s location/s:
CHST14 - 15q15.1

What are the main symptoms of Adducted Thumbs syndrome?

The typical symptoms of the syndrome are:
Arthrogryposis multiplex congenita, Craniosynostosis, Dysphagia, Myelin-dependent gliosis, Open mouth, Velopharyngeal insufficiency, Autosomal recessive inheritance, Adducted thumb, Abnormality of the pharynx, Cerebral dysmyelination, Cleft palate, High palate, Hypertrichosis, Generalized hypotonia, Cognitive impairment, Reduced tendon reflexes, Respiratory failure, Talipes, Microcephaly, Myopathic facies, Laryngomalacia, Muscular hypotonia, Myopathy, Pectus excavatum

How does someone get tested for Adducted Thumbs syndrome?

The initial testing for Adducted Thumbs syndrome can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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.

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