Just diagnosed with Pfeiffer syndrome?
You are not alone. Here is where to start: learn the basics, find a specialist or center that sees Pfeiffer syndrome, look for clinical trials, and connect with others living with it — all in one place.
Open the full interactive Pfeiffer syndrome hub →Overview
Pfeiffer syndrome is a rare condition. Also known as ACS5, Acrocephalosyndactyly type 5. Tomeko brings together the specialists, research, clinical trials, treatments and community for Pfeiffer syndrome so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.
Identifiers: ORPHA:710 · OMIM 101600 · ICD-10 Q87.0 · GARD 0007380
Find care for Pfeiffer syndrome
Authoritative references for Pfeiffer syndrome
Research & market landscape for Pfeiffer syndrome
Following Pfeiffer syndrome for research or industry? Tomeko brings together the recruiting trials, the latest literature, patient organizations, and the specialist and care-center footprint for Pfeiffer syndrome — the real-world landscape behind the condition, in one place.
- Latest Pfeiffer syndrome research on PubMed ↗
- Recruiting Pfeiffer syndrome trials on ClinicalTrials.gov ↗
- Explore the Pfeiffer 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 Pfeiffer syndrome and every rare condition. See how Tomeko works with industry →
Common questions
What is Pfeiffer syndrome?
Pfeiffer syndrome is a rare condition. Also known as ACS5, Acrocephalosyndactyly type 5. For an authoritative medical description see the reference sources on this page; Tomeko brings the specialists, clinical trials, patient organizations and community for Pfeiffer syndrome together in one place.
What are the symptoms of Pfeiffer syndrome?
Symptoms of Pfeiffer 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 Pfeiffer syndrome.
How is Pfeiffer syndrome treated?
Treatment for Pfeiffer syndrome depends on the individual and is managed by specialists. Use Tomeko to find clinicians and Centers of Excellence who see Pfeiffer syndrome, and review current options with them.
What causes Pfeiffer syndrome — is it genetic?
The cause and inheritance of Pfeiffer syndrome are described in the authoritative references linked on this page. A genetics or specialist clinician who treats Pfeiffer syndrome can explain what it means for you and your family.
I was just diagnosed with Pfeiffer syndrome — what should I do first?
Start by learning the basics from an authoritative source, find a specialist or center that sees Pfeiffer syndrome, and connect with a patient organization. Tomeko brings these together on one hub.
Where can I find a specialist for Pfeiffer syndrome?
Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat Pfeiffer syndrome, filtered to your area.
Are there clinical trials for Pfeiffer syndrome?
Tomeko shows live, recruiting studies for Pfeiffer syndrome from ClinicalTrials.gov on the hub.
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