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Coverage: 2015-01-01 onwards, with up to 300 results per query from PubMed and Europe PMC and separate limits on other sources. This is a selected index, not a complete literature search.
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Aarskog-Scott Syndrome: Research Summary
Printed from RareWays (rareways.org)
For general awareness only. Not medical advice. Discuss all care options with your healthcare team.
5 Most Recent Research Articles
- 1.
The role of FGD (faciogenital dysplasia) family proteins in regulation of post-Golgi transport
M.V. Egorov et al., Bulletin of Experimental Biology and Medicine (1 January 2026)
https://doi.org/10.47056/0365-9615-2026-181-5-621-625
- 2.
The Co-Occurrence of Autism Spectrum Disorder and Aarskog-Scott Syndrome in an Accomplished Young Man.
Romanova Raisa S et al., Pediatric reports (8 July 2025)
https://pubmed.ncbi.nlm.nih.gov/40700061/
- 3.
A Child with Aarskog Scott Syndrome and Autism Spectrum Disorder
Nur Seda Gülcü Üstün, Sakarya Medical Journal (12 June 2025)
https://doi.org/10.31832/smj.1634144
- 4.
Aarskog Syndrome: Deep Phenotyping and Genomic Landscape of a New Cohort Including Adult Patients.
Turgut Gozde Tutku et al., Clinical genetics (2 April 2025)
https://pubmed.ncbi.nlm.nih.gov/40170577/
- 5.
Clinical and pathogenetic characteristics of Aarskog–Scott syndrome
M.V. Egorov et al., CLINICAL AND EXPERIMENTAL MORPHOLOGY (1 January 2025)
https://doi.org/10.31088/cem2025.14.6.5-12
Source: RareWays research directory. Data from PubMed, Europe PMC, OpenAlex, ClinicalTrials.gov.
Always verify information with your healthcare team before making any decisions about your care.
Aarskog-Scott Syndrome
Aarskog-Scott syndrome is a rare genetic condition that affects the growth of the face, hands, feet and genitals. Common features include short stature, widely spaced eyes, short fingers and a shawl-like fold of skin around the scrotum. It is usually inherited in an X-linked way and mainly affects boys. Care involves growth monitoring, and orthopaedic, dental, eye and learning support as needed.
This overview is general information, not an individual medical assessment. Research is selected automatically and may include mismatches. How we select and explain research.
There is not much recent research on Aarskog-Scott Syndrome, so this page includes research published since 2015. Most pages on RareWays start at 2020.
Most Recent Research
Исследована роль белков семейства FGD (фациогенитальная дисплазия) в регуляции внутриклеточного конститутивного пост-Гольджи транспорта мембранного белка VSVG (G-белок вируса везикулярного стоматита). Семейство FGD включает шесть гомологичных белков (FGD1–6), характерной особенностью которых является наличие нескольких pleckstrin homology (PH) участков, обеспечивающих присоединение белка к биологическим мембранам, а также регуляторный домен Dbl homology (DH), ответственный за активацию ГТФазы CDC42, которая регулирует множество клеточных процессов, включая организацию цитоскелета, эндоцитоз, мембранный транспорт и поляризацию клеток. Нокдаун генов FGD2–4 вызывает существенную (до 70 %) задержку транспорта секреторного белка VSVG в сегменте транс-части аппарата Гольджи, в то время нокдаун генов FGD5/6 замедляет конститутивный пост-Гольджи транспорт (до 53 %), и этот эффект также является статистически значимым.
Common Questions
What is Aarskog-Scott Syndrome?
Aarskog-Scott syndrome is a rare genetic condition that affects the growth of the face, hands, feet and genitals. Common features include short stature, widely spaced eyes, short fingers and a shawl-like fold of skin around the scrotum. It is usually inherited in an X-linked way and mainly affects boys. Care involves growth monitoring, and orthopaedic, dental, eye and learning support as needed.
How many clinical trials are available for Aarskog-Scott Syndrome?
No clinical trials are currently indexed for Aarskog-Scott Syndrome. This may change as new trials are registered. Check back regularly or visit ClinicalTrials.gov directly.
Where does the research data for Aarskog-Scott Syndrome come from?
RareWays aggregates research from PubMed, Europe PMC, OpenAlex, and ClinicalTrials.gov. Data is refreshed automatically every day. All articles and trials link directly to their original sources.
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