Table 1 A summary of the characteristics of genetic acro-osteolysis
Pycnodysostosis | Neuropathy hereditary sensory and autonomic type iia / iib = neurogenic acroosteolysis | Pachydermoperiostosis | Haim-munk syndrome | Warburg-cinotti syndrome | Mandibulo-acral dysplasia with type a/type b lipodystrophy | Penttinen syndrome | Hajdu-cheney syndrome | PTHLH amplification Acroosteolysis Bone fragility and Echondromatosis Syndrome | |
|---|---|---|---|---|---|---|---|---|---|
OMIM | 265,800 | 201,300 | 259,100 | 245,010 | 618,175 | 248,370 608,612 | 601,812 | 102,500 | |
Pain | X | X | X | ||||||
Mandibular lesions | X | X | X | Once (case) | |||||
Long bones involvement | X | X | X | X | X | X | |||
Rachis involvement | X | X | X | X | |||||
Other bone abnormalities | X | X | X | X | X | X | X | X | |
Bone fragility | X | X | X | X | X | ||||
Skin, nails, and hair involvement | X | X | X | X | X | X | X | X | |
Sensory impairment | X | Deafness? | |||||||
Central nervous system impairment | X | ||||||||
Neurosensory disorder | X | X | X | ||||||
Dysmorphia | X | X | X | X | X | X | X | ||
Dental anomalies | X | X | X | X | X | X | X | ||
Visceral involvement | X | X | X | X | |||||
Growth retardation or short stature | X | X | X | ||||||
Increased stature | X | X | |||||||
Gene | CTSK | WNK1 FAM134B | HPGD | CTSC | DDR2 | LMNA ZMPSTE24 | PDGFRB | NOTCH2 | PTHLH |
Chromosome | 1q21 | 12p13.33 5p15.1 | 4q33-q34 | 11q14.2 | 1q23.3 | 1q22 1p34.2 | 5q32 | 1p13-p11 | 12p11.22-p11.23 |
Inheritance | Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal dominant | Autosomal recessive | Autosomal dominant | Autosomal dominant | ? |