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Frontometaphyseal dysplasia

MONDO:0015942

Frontometaphyseal dysplasia (FMD) belongs to the otopalatodigital syndrome spectrum disorder and is characterized by anomalous ossification and skeletal patterning of the axial and appendicular skeleton, facial dysmorphism and conductive and sensorineural hearing loss.

Also known as: frontometaphyseal dysplasia, FMD

2 clinical trials for this condition and its sub-types.

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Sub-types

Frontometaphyseal dysplasia 2 (2) Frontometaphyseal dysplasia 1 (0)

Broader categories

Disease (717) Musculoskeletal system disorder (214) Hereditary disease (188) Bone disorder (51) Human disease (15) Skeletal system disorder (4) Disease of genetic or genomic mechanism (2) Skeletal dysplasia (1) Disease by body system or component (0) Disease by etiologic mechanism (0)

Not yet finished but already full! 1 Completed 1

New hope for FSHD: Long-Term drug safety trial underway

Disease control Ongoing

This study is for people with FSHD, a genetic disease that causes muscle weakness. It tests the long-term safety and how well the body tolerates a drug called AOC 1020, given through a vein. About 84 adults who completed a previous study will take part. The main goal is to check …

Phase 2 • Sponsor: Avidity Biosciences, Inc. • Aim: Disease control

Last updated Jul 16, 2026 00:00 UTC