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Disease characteristics

Excerpted from the GeneReview: ATP7A-Related Copper Transport Disorders
Menkes disease, occipital horn syndrome (OHS), and ATP7A-related distal motor neuropathy (DMN) are disorders of copper transport caused by mutations in the copper-transporting ATPase gene (ATP7A). Infants with classic Menkes disease appear healthy until age two to three months, when loss of developmental milestones, hypotonia, seizures, and failure to thrive occur. The diagnosis is usually suspected when infants exhibit typical neurologic changes and concomitant characteristic changes of the hair (short, sparse, coarse, twisted, and often lightly pigmented). Temperature instability and hypoglycemia may be present in the neonatal period. Death usually occurs by age three years. Occipital horn syndrome is characterized by "occipital horns," distinctive wedge-shaped calcifications at the sites of attachment of the trapezius muscle and the sternocleidomastoid muscle to the occipital bone. Occipital horns may be clinically palpable or observed on skull radiographs. Individuals with OHS also have lax skin and joints, bladder diverticula, inguinal hernias, and vascular tortuosity. Intellect is normal or slightly reduced. ATP7A-related distal motor neuropathy, an adult-onset disorder resembling Charcot-Marie-Tooth disease, shares none of the clinical or biochemical abnormalities characteristic of Menkes disease or OHS.

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Associated genes

Clinical features

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  • Orthostatic hypotension
  • Hypothermia
  • Coxa valga
  • High forehead
  • Cerebral calcification
  • Broad clavicles
  • Long face
  • Narrow face
  • Long neck
  • Soft skin
  • Pelvic exostoses
  • Limited knee extension
  • Kyphosis
  • Broad ribs
  • Persistent open anterior fontanelle
  • Cognitive impairment
  • Capitate-hamate fusion
  • Redundant skin
  • Limited elbow extension
  • Long philtrum
  • Downslanted palpebral fissures
  • Platyspondyly
  • Reduced bone mineral density
  • Feeding difficulties in infancy
  • Osteoporosis
  • Carotid artery tortuosity
  • Recurrent urinary tract infections
  • Bladder diverticulum
  • Hydronephrosis
  • Abnormality of the palate
  • High palate
  • Abnormality of the fontanelles and cranial sutures
  • Abnormality of the nose
  • Abnormality of the pinna
  • Convex nasal ridge
  • Pectus excavatum
  • Pectus carinatum
  • Narrow chest
  • Short clavicles
  • Hyperextensible skin
  • Bruising susceptibility
  • Atypical scarring of skin
  • Brachydactyly syndrome
  • Muscular hypotonia
  • Joint hypermobility
  • Joint laxity
  • Abnormality of the liver
  • Pes planus
  • Chronic diarrhea
  • Hiatus hernia
  • Coarse hair
  • Aneurysm
  • Scoliosis
  • Osteolysis
  • Genu valgum
  • Bladder carcinoma
  • Abnormality of the fibula
  • Abnormality of the tibia
  • Abnormality of the wrist
  • Elbow dislocation
  • Abnormality of the shoulder
  • Abnormality of the humerus
  • Abnormality of the hip bone
  • Hernia of the abdominal wall
  • Venous insufficiency
  • Short humerus
  • Ureteral obstruction
  • Synostosis of joints
  • Exostoses
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