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Lamb-Shaffer syndrome

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 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

Common questions

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.

Informational only — not medical advice. Always consult a qualified clinician. Provider and reference data from public sources (NIH GARD, Orphanet, OMIM, HPO, MONDO, ClinicalTrials.gov, CMS NPPES). © Tomeko · tomekohealth.com