De Lange Syndrome
Recent clinical, regulatory, research and industry developments relating to this disease.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
- 1 clinical trial with recent milestones.
Clinical MilestonesViewHide
- 2025-09-01Cornelia De Lange Syndrome: Assessing Positive Effects of Lithium TreatmentPrimary completion
- 2025-09-01ClinicalCornelia De Lange Syndrome: Assessing Positive Effects of Lithium TreatmentPrimary completion
Clinical trials
The current development programme across all trial phases.
Research activity
Key research shaping understanding of this disease, combining the latest publications with the most influential evidence.
Major themes2
- De Lange Syndrome1
- Nuclear Proteins1
Leading journals1
- American journal of medical genetics. Part A1
Leading researchers8
- Abdul-Rahman O1
- Al Rawi Z1
- Allen B1
- Angula MA1
- Anyane-Yeboa K1
- Argente J1
- Armstrong L1
- Arn PH1
Affiliations (unnormalised)6
- Advocate Children's Hospital1
- Al Jalila Genomics Center1
- All India Institute of Medical Sciences1
- Amrita Institute of Medical Sciences & Research Centre1
- Arnold Palmer Hospital1
- Baylor College of Medicine1
Reference
Authoritative identity, definition & identifiers.
A syndrome characterized by growth retardation, severe MENTAL RETARDATION, short stature, a low-pitched growling cry, brachycephaly, low-set ears, webbed neck, carp mouth, depressed nasal bridge, bushy eyebrows meeting at the midline, hirsutism, and malformations of the hands. The condition may occur sporadically or be associated with an autosomal dominant pattern of inheritance or duplication of the long arm of chromosome 3. (Menkes, Textbook of Child Neurology, 5th ed, p231)
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Clinical trials — ClinicalTrials.gov (U.S. National Library of Medicine)
- Research activity — Europe PMC (EMBL-EBI) + OpenAlex-derived paper links
- Related entities are derived from literature co-mention (studied together) — associative, not causal.