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GlossaryHypermobility Spectrum Disorder (joint hypermobility syndrome)

group of conditions with overly flexible joints causing pain and instability

Hypermobility Spectrum Disorder (HSD) is a group of conditions characterized by joints that move beyond the normal range of motion, often leading to pain, instability, and an increased risk of injury. It encompasses a range of symptoms from benign joint hypermobility to more severe forms that can affect daily functioning and quality of life. HSD is distinct from other connective tissue disorders like Ehlers-Danlos Syndrome, although they can share similar features.

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research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome

20 citations, February 2019 in “Genes”

The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.

research Congenital Adrenal Hyperplasia: Comprehensive Overview and Clinical Management

100 citations, May 2011 in “Journal of Pediatric and Adolescent Gynecology”

The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.

research Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Pathophysiology, Diagnosis, and Treatment

49 citations, January 2010 in “International Journal of Pediatric Endocrinology”

The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.

research Becker Naevus Syndrome Associated With a Mosaic Pathogenic Variant in ACTB

June 2023 in “British journal of dermatology/British journal of dermatology, Supplement”

A girl with Becker naevus syndrome has a genetic variant in the ACTB gene related to her symptoms.

Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants

research Case Report: Two Individuals With AEBP1-Related Classical-Like EDS - Further Clinical Characterisation and Description of Novel AEBP1 Variants

1 citations, April 2023 in “Frontiers in Genetics”

The document concludes that individuals with a rare genetic disorder linked to the AEBP1 gene may experience a unique type of hair loss and should be monitored for heart issues.

research A 15-Year-Old Girl with Trichorhinophalangeal Syndrome Type 1 and Non-Ossifying Fibroma in Femur: A Case Report

August 2022 in “Journal of Comprehensive Pediatrics”

A girl with a rare genetic disorder had a unique bone condition, highlighting the need for careful diagnosis and suggesting the disorder might be more common than thought.

The Frequency of Visceral and Phenotypic Markers in Patients with the Combination of Undifferentiated Connective Tissue Disease and Gastroesophageal Reflux Disease

research The Frequency of Visceral and Phenotypic Markers in Patients with the Combination of Undifferentiated Connective Tissue Disease and Gastroesophageal Reflux Disease

5 citations, January 2020 in “Wiadomości lekarskie (Warsaw Poland)”

Patients with both connective tissue disease and acid reflux are more likely to have certain symptoms and physical signs.

Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

research Case Report: A Novel Splice-Site Mutation of MTX2 Gene Caused Mandibuloacral Dysplasia Progeroid Syndrome: The First Report from China and Literature Review

March 2024 in “Frontiers in endocrinology”

A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.

research Heterozygous COL5A1 Deletion in a Cat with Classical Ehlers-Danlos Syndrome

May 2024 in “Animal genetics”

A cat's poor wound healing was linked to a genetic deletion in the COL5A1 gene.

research Structure and Development of the Skin and Cutaneous Appendages

1 citations, July 2016 in “Elsevier eBooks”

Understanding skin structure and development helps diagnose and treat skin disorders.

A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome

December 2023 in “American journal of medical genetics. Part A”

A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.

research Diagnosis and Management of Vascular Ehlers-Danlos Syndrome: Experience of the UK National Diagnostic Service, Sheffield

1 citations, March 2023 in “European Journal of Human Genetics”

The UK's EDS National Diagnostic Service found that early diagnosis, lifestyle advice, and regular check-ups are crucial for managing vascular Ehlers-Danlos syndrome. A combination of losartan and bisoprolol can reduce vascular events, improving survival and quality of life.

research Cutis Verticis Gyrata Associated With Chronic Traction Alopecia

June 2023 in “British journal of dermatology/British journal of dermatology, Supplement”

Tight hairstyles can cause a rare scalp condition with thick skin folds.

research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters

1 citations, May 2023 in “European Journal of Human Genetics”

Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.

research Collagen Involvement in Health, Disease, and Medicine

1 citations, March 2022 in “IntechOpen eBooks”

Collagen is crucial for health and treating certain diseases, and supplements can improve skin, nails, and hair conditions.

research Congenital Adrenal Hyperplasia: Current Insights in Pathophysiology, Diagnostics, and Management

157 citations, May 2021 in “Endocrine Reviews”

Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.

research Madarosis: A Marker of Many Maladies

36 citations, January 2012 in “International Journal of Trichology”

Losing eyelashes or eyebrows can be a sign of many different health problems and needs a careful approach to treat effectively.

research Efficacy of Oral Tofacitinib in the Treatment of Lichen Planopilaris

1 citations, April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology”

Oral tofacitinib significantly improves lichen planopilaris symptoms without adverse effects.

research Ingestion of Topical Steroid Triggering Pustular Psoriasis?

1 citations, August 2005 in “British Journal of Dermatology”

Accidentally eating a topical steroid may rarely cause acute generalized pustular psoriasis.

research Samcyprone (Diphenylcyclopropenone Ointment) for the Treatment of Common Warts

April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology”

Samcyprone ointment is effective for treating common warts if a sensitization reaction occurs first.

research Familial 1q22 Microduplication Associated With Psychiatric Disorders, Intellectual Disability, and Late-Onset Autoimmune Inflammatory Response

5 citations, December 2014 in “Molecular cytogenetics”

A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.

research Rheumatologic Manifestations of Pregnancy

3 citations, November 2010 in “Rheumatic Diseases Clinics of North America”

Pregnancy can cause symptoms similar to rheumatic diseases, making diagnosis difficult, and affects various body systems, requiring careful distinction between normal changes and serious conditions.

research Index

November 2019 in “Harper's Textbook of Pediatric Dermatology”

The document is a detailed medical reference on skin and genetic disorders.

Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases

research Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases

7 citations, May 2019 in “European Journal of Human Genetics”

BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.

research One Year Cross-Sectional Study of Association Between Androgenetic Alopecia and Benign Prostatic Hyperplasia in a Tertiary Care Hospital

January 2017 in “Indian journal of health sciences and biomedical research KLEU”

There is no link between hair loss and prostate enlargement.

research Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance

56 citations, April 2015 in “American journal of medical genetics. Part A”

Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.

research Zinc and Zinc Transporters in Dermatology

4 citations, December 2022 in “International Journal of Molecular Sciences”

Zinc is crucial for skin health and treating various skin disorders.