Just diagnosed with Lamb-Shaffer syndrome?
You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Lamb-Shaffer syndrome, look for clinical trials, and connect with others living with it — all in one place.
Open the full interactive Lamb-Shaffer syndrome hub →Overview
Lamb-Shaffer syndrome is a rare condition. Also known as SOX5 haploinsufficiency syndrome. Tomeko brings together the specialists, research, clinical trials, treatments and community for Lamb-Shaffer syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:530983 · OMIM 616803 · ICD-10 Q87.8 · GARD 0022211
Find care for Lamb-Shaffer syndrome
Authoritative references for Lamb-Shaffer syndrome
Research & market landscape for Lamb-Shaffer syndrome
Following Lamb-Shaffer syndrome for research or industry? Tomeko brings together the recruiting trials, the latest literature, patient organizations, and the specialist and care-center footprint for Lamb-Shaffer syndrome — the real-world landscape behind the condition, in one place.
- Latest Lamb-Shaffer syndrome research on PubMed ↗
- Recruiting Lamb-Shaffer syndrome trials on ClinicalTrials.gov ↗
- Explore the Lamb-Shaffer syndrome research & specialist footprint on Tomeko
Researchers, patient organizations & industry: Tomeko provides de-identified, no-PHI demand and engagement signal, trial awareness, and a labeled, editorially-firewalled presence for Lamb-Shaffer syndrome and every rare condition. See how Tomeko works with industry →
Common questions
What is Lamb-Shaffer syndrome?
Lamb-Shaffer syndrome is a rare condition. Also known as SOX5 haploinsufficiency syndrome. For an authoritative medical description see the reference sources on this page; Tomeko brings the specialists, clinical trials, patient organizations and community for Lamb-Shaffer syndrome together in one place.
What are the symptoms of Lamb-Shaffer syndrome?
Symptoms of Lamb-Shaffer syndrome vary from person to person. For a reviewed, plain-language overview see the authoritative references below (NIH GARD, Orphanet), and discuss your own symptoms with a clinician who treats Lamb-Shaffer syndrome.
How is Lamb-Shaffer syndrome treated?
Treatment for Lamb-Shaffer syndrome depends on the individual and is managed by specialists. Use Tomeko to find clinicians and Centers of Excellence who see Lamb-Shaffer syndrome, and review current options with them.
What causes Lamb-Shaffer syndrome — is it genetic?
The cause and inheritance of Lamb-Shaffer syndrome are described in the authoritative references linked on this page. A genetics or specialist clinician who treats Lamb-Shaffer syndrome can explain what it means for you and your family.
I was just diagnosed with Lamb-Shaffer syndrome — what should I do first?
Start by learning the basics from an authoritative source, find a specialist or center that sees Lamb-Shaffer syndrome, and connect with a patient organization. Tomeko brings these together on one hub.
Where can I find a specialist for Lamb-Shaffer syndrome?
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Lamb-Shaffer syndrome, filtered to your area.
Are there clinical trials for Lamb-Shaffer syndrome?
Tomeko shows live, recruiting studies for Lamb-Shaffer syndrome from ClinicalTrials.gov on the hub.
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