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Prevalence of HSD alone is unknown, though previous estimates have placed the combined prevalence of hEDS and HSD between 194.2 per 100 000 (0.19%) or 1 in 500 people. [7] The condition is relatively common in those attending musculoskeletal services.
Joint hypermobility is often correlated with hypermobile Ehlers–Danlos syndrome (hEDS, known also by EDS type III or Ehlers–Danlos syndrome hypermobility type (EDS-HT)). Ehlers–Danlos syndrome is a genetic disorder caused by mutations or hereditary genes, but the genetic defect that produced hEDS is largely unknown. In conjunction with ...
The ongoing study has screened over 1,000 people who have been diagnosed with hEDS by the 2017 criteria to evaluate their genome for a common mutation. To date, 200 people with hEDS have had whole genome sequencing, and 500 have had whole exome sequencing; this study aims to increase those numbers significantly. [citation needed]
Hypermobility can have causes that are not hEDS: Other medical conditions such as Marfan syndrome can cause it. Also, children tend to have more lax joints, and I think to some extent you can become hypermobile by training (as in contortionists, although some contortionists have underlying medical conditions).
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease [7] that is mostly inherited. [8] The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities.
Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have relatively large skulls (macrocephaly) than is normal for their age. Signs of the disorder, which vary among individuals, include a disproportionately large skull with a slightly protrusive forehead, large hands and feet, large mandible, hypertelorism ...
There are a variety of symptoms that can occur in children. Infants with microcephaly are born with either a normal or reduced head size. [10] Subsequently, the head fails to grow, while the face continues to develop at a normal rate, producing a child with a small head and a receding forehead, and a loose, often wrinkled scalp. [11]
Saethre–Chotzen syndrome (SCS), also known as acrocephalosyndactyly type III, is a rare congenital disorder associated with craniosynostosis (premature closure of one or more of the sutures between the bones of the skull). This affects the shape of the head and face, resulting in a cone-shaped head and an asymmetrical face.