Cardiofaciocutaneous syndrome

MONDO:0015280

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

Also known as: CFC, CFC syndrome, cardiofaciocutaneous (CFC) syndrome, cardiofaciocutaneous syndrome, cardio-facio-cutaneous syndrome, congenital heart defects characteristic facial appearance ectodermal abnormalities and growth failure

16 clinical trials for this condition and its sub-types, 7 tagged with Cardiofaciocutaneous syndrome itself.

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Where it sits in the disease tree

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Part of

↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59) ↑ Ectodermal dysplasia syndrome (45) ↑ Noonan syndrome and Noonan-related syndrome (28)

Sub-types of Cardiofaciocutaneous syndrome

Cardiofaciocutaneous syndrome 1 1 trial
Cardiofaciocutaneous syndrome 2 0 trials
Cardiofaciocutaneous syndrome 3 0 trials
Cardiofaciocutaneous syndrome 4 0 trials

Including sub-types (16) Tagged with Cardiofaciocutaneous syndrome (7)

Trials to join now! 3 Not yet recruiting 2 Not yet finished but already full! 1 Terminated 1

New drug aims to help kids with rare genetic short stature grow taller

Disease control Ongoing

This study tests a drug called vosoritide in 56 children with short stature caused by certain genetic conditions. The drug targets the growth plate to help children grow faster. Participants are observed for 6 months, then treated with daily injections for 12 months to check safe…

Phase 2 • Sponsor: Andrew Dauber • Aim: Disease control

Last updated Jun 27, 2026 11:03 UTC

Cardiofaciocutaneous syndrome

Where it sits in the disease tree

New drug aims to help kids with rare genetic short stature grow taller