skeletal dysplasia

Findings

No curated finding names skeletal dysplasia yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Definition

Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.

Where it sits

A kind of

• bone disorder
• hereditary disease

Narrower terms (119)

• 2q37 microdeletion syndrome
• autosomal dominant osteosclerosis, Worth type
• baby rattle pelvis dysplasia
• bird headed-dwarfism, Montreal type
• brachydactyly-elbow wrist dysplasia syndrome
• Camurati-Engelmann disease
• carpotarsal osteochondromatosis
• Catel-Manzke syndrome
• cerebrocostomandibular syndrome
• chondromalacia patellae
• cleidorhizomelic syndrome
• cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome
• colobomatous microphthalmia-rhizomelic dysplasia syndrome
• coxopodopatellar syndrome
• craniofrontonasal syndrome
• craniometadiaphyseal dysplasia, wormian bone type
• Currarino triad
• delayed membranous cranial ossification

Resolves to: skeletal dysplasia

Also called

Mendelian skeletal dysplasiaprimary bone dysplasiaprimary osteodysplasiaprimary skeletal dysplasia