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ENHajdu-Cheney Syndrome (HJCYS)
Alias:
Acroosteolysis with Osteoporosis and Changes in Skull and Mandible
Arthrodentoosteodysplasia
Cheney Syndrome
Acroosteolysis Dominant Type
Serpentine Fibula-Polycystic Kidney Syndrome
Hjcys
Sfpks
Acroosteolysis Osteoporosis Skull and Mandible Changes
Hereditary Osteodysplasia with Acro-Osteolysis
Cranioskeletal Dysplasia with Acro-Osteolysis
Serpentine Fibula Polycystic Kidney Syndrome
Arthro-Dento-Osteo Dysplasia
Serpentine Fibula Syndrome
Familial Osteodysplasia
Acro-Osteolysis
Hcs
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Hajdu-Cheney Syndrome, also known as acroosteolysis with osteoporosis and changes in skull and mandible, is related to meningocele and heart septal defect. An important gene associated with Hajdu-Cheney Syndrome is NOTCH2 (Notch Receptor 2), and among its related pathways/superpathways are Gene expression (Transcription) and Infectious disease. Affiliated tissues include bone and kidney, and related phenotypes are osteopenia and skeletal dysplasia
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MALACARDS
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