Dias Logan Syndrome
Comment: notable but needs more sources(I did a few edits)......please see MEDRS .......https://en.wikipedia.org/wiki/Wikipedia:Identifying_reliable_sources_(medicine) Ozzie10aaaa (talk) 16:26, 24 July 2026 (UTC)
- Comment: Need significant coverage to meet Wikipedia's Notability Criteria. 𝓖𝓲𝓻𝓭𝓲➃➄ ✍️ (talk) 09:28, 27 June 2026 (UTC)
| Dias Logan Syndrome | |
|---|---|
| Synonyms | Hereditary persistence of fetal hemoglobin-intellectual disability syndrome[1] |
| Classification and external resources | |
| Specialty | {{#statements:P1995}} |
| Patient UK | [1] |
Dias Logan syndrome is a rare intellectual developmental disorder, characterized by delayed psychomotor development, impaired intellectual development, variable dysmorphic features, and asymptomatic persistence of fetal hemoglobin.[2] [3] [4]
Presentation
Dias Logan Syndrome can present as intellectual and physical developmental delays, including later-than-average walking and speaking. Certain craniofacial features are also associated with Dias Logan Syndrome, including strabismus, a thin upper or everted lower lip, external ear abnormalities, or microcephaly. The frequency and consistency of these craniofacial abnormalities across individuals with Dias Logan Syndrome remains to be studied. Joint hypermobility has also been observed.[5]
Cause
Dias Logan Syndrome is very similar to other intellectual and developmental disability disorders. It is specifically characterized by de novo mutations in the BCL11A gene.[citation needed]
Diagnosis
Genetic testing is necessary to identify the specific genetic mutation.[citation needed]
Treatment
In terms of management there is no cure for Dias-Logan syndrome. Treatment is supportive and depending on individuals specific symptoms.[citation needed]
Prognosis
Because of the similarity between this and other intellectual and developmental disorders, and due to the evolving understanding of the nature of the syndrome, a unique prognosis has not been defined.[citation needed]
References
- ↑ "Vérification de la connexion..." www.orpha.net. Retrieved 24 July 2026.
- ↑ "Dias-Logan syndrome (Concept Id: C4310833) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 24 July 2026.
- ↑ Shu, Yizhuo; Chen, Xiaoling; Wei, Zhuoqun; Chen, Chunyue (July 24, 2025). "Dias-Logan syndrome with a de novo p.Leu360Profs*212 heterozygous pathogenic variant of BCL11A in a Chinese patient: A case report". SAGE Open Medical Case Reports. 13. doi:10.1177/2050313X251314069. PMC 11744616 Check
|pmc=value (help). PMID 39835253 Check|pmid=value (help). Unknown parameter|article-number=ignored (help) - ↑ Dias, Cristina; Estruch, Sara B.; Graham, Sarah A.; McRae, Jeremy; Sawiak, Stephen J.; Hurst, Jane A.; Joss, Shelagh K.; Holder, Susan E.; Morton, Jenny E.V.; Turner, Claire; Thevenon, Julien; Mellul, Kelly; Sánchez-Andrade, Gabriela; Ibarra-Soria, Ximena; Deriziotis, Pelagia; Santos, Rui F.; Lee, Song-Choon; Faivre, Laurence; Kleefstra, Tjitske; Liu, Pentao; Hurles, Mathew E.; Fisher, Simon E.; Logan, Darren W.; Logan, D. W. (August 4, 2016). "BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription". American Journal of Human Genetics. 99 (2): 253–274. doi:10.1016/j.ajhg.2016.05.030. PMC 4974071. PMID 27453576.
- ↑ "Entry - #617101 - INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN - OMIM". omim.org. Retrieved 24 July 2026.
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