5 articles
Familial expansile osteolysis
Familial expansile osteolysis (FEO, McCabe disease, MIM 174810) is an ultra-rare autosomal dominant bone dysplasia caused by TNFRSF11A/RANK exon 1 tandem duplications, causing childhood deafness, tooth root resorption, and progressive appendicular osteolysis with fractures.
Hajdu-Cheney syndrome
Hajdu-Cheney syndrome (HCS, OMIM 102500, ORPHA955), also called acroosteolysis dominant type or serpentine fibula-polycystic kidney syndrome, is a rare autosomal dominant NOTCH2-related skeletal disorder with acroosteolysis, osteoporosis, and craniofacial anomalies.
Mandibuloacral dysplasia
Mandibuloacral dysplasia (MAD, MADA/MADB) is an ultrarare autosomal recessive progeroid laminopathy with mandibular and clavicular hypoplasia, acro-osteolysis, skin pigmentation changes, and lipodystrophy, caused by LMNA (type A) or ZMPSTE24 (type B) mutations.
Nestor-Guillermo progeria syndrome
Nestor-Guillermo progeria syndrome (NGPS, OMIM 614008) is an autosomal recessive BANF1 (p.Ala12Thr) premature-aging disorder with severe osteolysis, osteoporosis, and lipoatrophy but no cardiovascular or metabolic complications, giving long survival; about three cases reported.
Osteolysis
Osteolysis (osteolytic lesion, disappearing bone) is bone destruction from resorption exceeding formation; types include periprosthetic osteolysis from wear debris, distal clavicle, and acro-osteolysis, ICD-11 FB86.2.