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achondroplasia

Disease of cartilage & endochondral bone growth. Genetics: 1) autosomal dominant 2) may be caused by mutations in the FGFR3 gene Clinical manifestations: 1) congenital dwarfism 2) recessed nasal bridge 3) large head with bulging forehead 4) normal trunk 5) dorsal kyphosis 6) backward-tilting sacrum 7) mildly distended abdomen 8) short muscular extremities, especially in the proximal segments 9) stubby hands 10) thick fingers Radiology: 1) short, bowed, wide bones with increased bone density 2) expanded bone ends 3) cupping of metaphyses 4) incomplete glenoid fossa & acetabulum 5) wide joint spaces Management: - vosoritide (Voxzogo) FDA-approved for treatment of achrondroplasia in children >= 2 years whose epiphyses have not yet closed

Related

hypochondroplasia

General

osteochondrodysplasia

Database Correlations

OMIM 100800

References

  1. OMIM :accession 100800
  2. DeGowin & DeGowin's Diagnostic Examination, 6th edition, RL DeGowin (ed), McGraw Hill, NY 1994, pg 860
  3. Trotter TL, Hall JG; American Academy of Pediatrics Committee on Genetics. Health supervision for children with achondroplasia. Pediatrics. 2005 Sep;116(3):771-83. PMID: 16140722