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Table 2 Summary of the key clinical manifestations, onset, severity, treatment, prognosis and recurrence risks of the main types of osteopetrosis

From: Osteopetrosis

Osteopetrosis subtype Autosomal recessive osteopetrosis (ARO) X-linked osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia and immunodeficiency (OLEDAID) Intermediate osteopetrosis (IRO) Autosomal dominant osteopetrosis
(Albers-Schönberg
disease)
  Classic Neuropathic ARO with RTA    
Genetic basis TCIRG CLCN7, OSTM1 Carbonic anhydrase II IKBKG (NEMO) CLCN7, PLEKHM1 CLCN7
Skeletal manifestations    Increased bone density, diffuse and focal sclerosis of varying severity
Modelling defects at metaphyses
Pathological fractures
Osteomyelitis
Dental abnormalities: tooth eruption defects and dental caries
 
Other manifestations Pancytopaenia.
Extramedullary haematopoiesis, hepatosplenomegaly.
Cranial nerve compression (II, VII, VIII)
Hydrocephalus
Hypocalcaemia
As for classic ARO, but primary neurodegeneration, including retinal atrophy Renal tubular acidosis.
Developmental delay. Intracranial calcification.
Cranial nerve compression.
Bone marrow impairment rare.
Anhidrotic ectodermal dysplasia.
Lymphedema.
Immunodeficiency resulting in overwhelming infection.
Anaemia and extramedullary haematopoiesis
Occasional optic nerve compression
Moderate haematological failure
Cranial nerve compression
Onset Perinatal Perinatal Infancy Infancy Childhood Late childhood or adolescence
Severity Severe Severe Moderate Severe Mild to moderate Mild to moderate, occasionally severe
Treatment Supportive
HSCT
Supportive Supportive
May benefit from HSCT
Supportive Supportive Supportive
Prognosis Poor
Fatal in infancy
Poor
Fatal in infancy
Variable Poor
Fatal in early childhood
Variable Normal life expectancy
Recurrence risk Parents of proband: 25% risk of recurrence in future pregnancies    If mother of proband carrier: 50% of male pregnancies affected Parents of proband: 25% risk of recurrence in future pregnancies 50% in future pregnancies if one parent affected