Gamuts

Menkes disease

Menkes disease (MNK), also known as Menkes syndrome, is an X-linked recessive disorder caused by mutations in genes coding for the copper-transport protein ATP7A, leading to copper deficiency. Characteristic findings include kinky hair, growth failure, and nervous system deterioration. [Source: Wikipedia ]

Synonyms
Kinky-hair syndrome
Menkes kinky-hair syndrome
Menkes syndrome
OrphaNet reference
Menkes disease 
Is A
Polyposis syndrome
May Cause
Abnormal eyelashes
Abnormal scapula
Alopecia
Anhidrosis
Arterial dilatation
Arterial occlusion
Arterial tortuosity
Bladder diverticulum
Brittle hair
Cataract
Congenital generalized osteoporosis
Congenital skull defect
Congenitally abnormal scapula
Defective cranial ossification
Delayed bone age
Delayed tooth eruption
Encephalopathy
Exostosis
Flaring of ribs
Generalized osteoporosis
Generalized wide epiphyseal plate
Hypohidrosis
Ichthyosis
Indistinct frayed metaphyses
Malabsorption
Metaphyseal cupping
Metaphyseal fragmentation
Metaphyseal spur
Microcephaly
Mitochondrial disorder
Multiple fractures
Myopia
Pathologic fracture
Periosteal new bone formation in a child
Symmetrical anterior rib flaring
Thick clavicle
Widespread periosteal reaction
Widespread soft-tissue calcification
Wormian bones

Copyright © 2022, Charles E. Kahn, Jr., MD, MS
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