Cure My Disease

Don't miss your cure!

Log in / Sign up

Craniometaphyseal dysplasia

MONDO:0015465

Craniometaphyseal dysplasia (CMD) is a very rare genetic bone disease characterized by progressive diffuse hyperostosis of cranial bones causing facial dysmorphism and functional repercussions, and metaphyseal widening of long bones.

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

Follow this condition — get notified about new trials

Sub-types

Craniometaphyseal dysplasia, autosomal dominant (1) Craniodiaphyseal dysplasia (0) Craniodiaphyseal dysplasia, autosomal dominant (0) Craniometaphyseal dysplasia, autosomal recessive (0)

Broader categories

Disease (680) Musculoskeletal system disorder (207) Hereditary disease (176) Bone disorder (51) Human disease (14) Bone remodeling disease (5) Skeletal system disorder (4) Disease of genetic or genomic mechanism (2) Osteosclerosis (1) Disease by body system or component (0)

Trials to join now! 1 Not yet recruiting 1

Hunt for genes behind rare bone disease could unlock future treatments

Knowledge-focused Recruiting now

This study aims to find the genes and genetic changes that cause craniometaphyseal dysplasia (CMD), a rare disorder that leads to abnormal bone growth in the skull and other bones. Researchers will analyze blood and tissue samples from 600 people, including affected individuals a…

Sponsor: UConn Health • Aim: Knowledge-focused

Last updated Jun 27, 2026 12:09 UTC