ANKH

Clinical Characteristics for Families

AD-CMD
HEAD & NECK
•    Bone thickening or dense bone in skull base
•    Bone thickening or dense bone in skull bones
•    Wide-set eyes
•    Large head circumference
•    Enlarged lower jaw
•    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
•    Calcification of cartilage in one or more joints
•    Calcium pyrophosphate (CPP) dihydrate crystal deposition (knee, symphysis pubis, wrist)
•    “Pseudogout” (common name for acute attacks of joint pain; similar in intensity to gout pain)
•    Arthropathy
•    Osteoarthritis
•    Disease onset usually in the 20’s

SYSTEMIC
•    Fever
•    Chills
•    Malaise
•    Depression due to pain and disability