AD-CMD
HEAD & NECK
• Hyperostotic or sclerotic skull base
• Hyperostotic or sclerotic calvarial bones
• Hypertelorism
• Macrocephaly
• Prognathism
• Paranasal bossing
• Conductive hearing loss
• Tooth malalignment
• Delayed tooth eruption
• Nasal obstruction
• Obliteration of sinuses
• Narrowing of cranial foramina including foramen magnum
SKELETAL
• Widened metaphyses of long bones
• 'Erlenmeyer flask' deformity especially visible in distal femur
• Normal spine
• Normal pelvis
CENTRAL NERVOUS SYSTEM
• Facial palsy
• Headaches due to intracranial pressure
• Loss of vision due to optic nerve impaction
• Sensorineural hearing loss
CCAL2
SKELETAL
• Polyarticular chondrocalcinosis (cartilage calcification); CPP disease
• Calcium pyrophosphate (CPP) dihydrate crystal deposition (knee, symphysis pubis, wrist)
• Pseudoosteoarthritis
• Pseudogout
• Arthropathy
• Osteoarthritis
• Disease onset in the 3rd decade
SYSTEMIC
• Fever
• Chills
• Malaise
• Depression due to pain and disability