A rare, primary bone dysplasia characterized by proportional short stature, early cessation of bone growth, accelerated skeletal maturation, variable presence of early-onset osteoarthritis and osteochondritis dissecans, and normal endocrine evaluation. The variable dysmorphic features include mild to relative macrocephaly, frontal bossing, midfacial hypoplasia, flat nasal bridge, brachydactyly, broad thumbs, and lordosis.
Matched Phenotype
Gene
Mutation
MeSH
Rank (Similarity) |
PMID (PMCID) |
Phenotype(s) retrieved from Orphanet
Total: 5
HPO ID |
Term |
Frequency |
HP:0001156 |
Brachydactyly |
Frequent (79-30%) |
HP:0007281 |
Developmental stagnation |
Frequent (79-30%) |
HP:0009778 |
Short thumb |
Frequent (79-30%) |
HP:0011800 |
Midface retrusion |
Frequent (79-30%) |
HP:0002758 |
Osteoarthritis |
Occasional (29-5%) |
Phenotype(s) retrieved from case reports
Total: 0
HPO ID |
Term |
# of case reports |
Causative gene(s) retrieved from Orphanet
Total: 1
Gene Symbol |
Gene Name |
Entrez Gene ID |
ACAN |
aggrecan |
176 |