"Osteopetrosis, also known as Albers-Schönberg disease or marble bone disease, is an uncommon hereditary disorder that results from defective osteoclasts. Bones become sclerotic and thick, but their abnormal structure actually causes them to be weak and brittle."
"Autosomal Recessive Osteopetrosis (malignant infantile osteopetrosis), presents in infancy with profound osteoclast dysfunction or absence, bone marrow failure, cranial nerve compression and high mortality; due to variants in TCIRG1, CLCN7, OSTM1, and RANKL/RANK"
"Intermediate Autosomal Recessive Osteopetrosis (IAO) presents in childhood with milder haematologic and neurologic complications; variants of genes such as CAII and PLEKHM1 are found"
"Osteoclast-poor Osteopetrosis is ultra-rare, due to variants in RANKL or RANK, with a near total absence of osteoclasts"
"Autosomal Recessive Osteopetrosis (malignant infantile osteopetrosis), presents in infancy with profound osteoclast dysfunction or absence, bone marrow failure, cranial nerve compression and high mortality; due to variants in TCIRG1, CLCN7, OSTM1, and RANKL/RANK"
"Autosomal Recessive Osteopetrosis (malignant infantile osteopetrosis), presents in infancy with profound osteoclast dysfunction or absence, bone marrow failure, cranial nerve compression and high mortality; due to variants in TCIRG1, CLCN7, OSTM1, and RANKL/RANK"
"Osteoclast-poor Osteopetrosis is ultra-rare, due to variants in RANKL or RANK, with a near total absence of osteoclasts"
"Osteoclast-poor Osteopetrosis is ultra-rare, due to variants in RANKL or RANK, with a near total absence of osteoclasts"
"Treatment is with bone marrow transplant (BMT) and resultant normalisation of bone production. The prognosis for the autosomal dominant adult subtype is good with a normal life expectancy. However, the autosomal recessive infantile subtype can result in stillbirth or death in infancy, with few patients living past middle age. RANKL-deficient forms are not amenable to BMT."
"There are two separate subtypes of osteopetrosis:"
"Autosomal Recessive Osteopetrosis (malignant infantile osteopetrosis), presents in infancy with profound osteoclast dysfunction or absence, bone marrow failure, cranial nerve compression and high mortality; due to variants in TCIRG1, CLCN7, OSTM1, and RANKL/RANK"
"Autosomal Recessive Osteopetrosis (malignant infantile osteopetrosis), presents in infancy with profound osteoclast dysfunction or absence, bone marrow failure, cranial nerve compression and high mortality; due to variants in TCIRG1, CLCN7, OSTM1, and RANKL/RANK"
"Intermediate Autosomal Recessive Osteopetrosis (IAO) presents in childhood with milder haematologic and neurologic complications; variants of genes such as CAII and PLEKHM1 are found"
"Autosomal Dominant Osteopetrosis (Albers-Schönberg disease) the most common and mildest form, presenting in adolescents or adults; increased fracture risk, mild anaemia and cranial nerve involvement; variants in the CLCN7 gene are typical"
"Autosomal Dominant Osteopetrosis (Albers-Schönberg disease) the most common and mildest form, presenting in adolescents or adults; increased fracture risk, mild anaemia and cranial nerve involvement; variants in the CLCN7 gene are typical"
"Due to loss of osteoclast activity, the medullary canal of involved bones does not exist; the end of long bones are bulbous and have a characteristic metaphyseal flare (Erlenmeyer flask deformity). The primary spongiosa persist and fill the medullary cavity, leaving no space for haematopoietic tissue, leading to anaemia or leucopenia, or/and extramedullary haematopoiesis. Patients may develop cranial nerve compression symptoms like diplopia and weakness of facial muscles. 7"
"Others: X-linked and newly described genetic variants (e.g., SLC4A2 deficiency)"
"heavy metal poisoning (e.g. lead)"