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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: experimental drug AOC 1020 completes early testing

Disease control Completed

This study tested a new medicine called AOC 1020 in 90 adults with facioscapulohumeral muscular dystrophy (FSHD), a genetic condition that causes muscle weakness. The goal was to check if the drug is safe and how the body processes it. Participants received either the drug or a p…

Phase 1/2 • Sponsor: Avidity Biosciences, Inc. • Aim: Disease control

Last updated Jul 18, 2026 00:00 UTC