disease has basis in dysfunction of NOTCH2 autosomal dominant disease rheumatologic disorder acroosteolysis acroosteolysis dominant type Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics. Arthrodentoosteodysplasia Cheney syndrome DOID:2736 GARD:0000508 HJCYS Hajdu-Cheney syndrome ICD10:M89.5 ICD9:756.59 MESH:C535663 MONDO:0007057 NCIT:C84745 OMIM:102500 Orphanet:955 SCTID:63122002 UMLS:C0917715 UMLS:C2930971 acrodentoosteodysplasia acroosteolysis with osteoporosis and changes in skull and mandible https://rarediseases.info.nih.gov/diseases/508/acroosteolysis-dominant-type serpentine fibula-polycystic kidney syndrome serpentine fibula-polycystic kidneys syndrome syndromic urogenital tract malformation syndromic renal or urinary tract malformation hereditary connective tissue disorder