Cataract-alopecia-sclerodactyly (CAS) syndrome is a very rare inherited skin–eye–hand condition. Babies are usually born with little or no hair (alopecia). ...

Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia is a very rare, inherited skin and hair disorder. “Autosomal recessive” means a child ...

Autosomal recessive palmoplantar keratoderma and congenital alopecia (often shortened to PPK-CA, recessive type / PPKCA2) is a very rare inherited skin ...

TNFRSF11A-related autosomal recessive osteopetrosis is a rare genetic bone disease. It happens when a child inherits two faulty copies of the TNFRSF11A gene, ...

Osteopetrosis-hypogammaglobulinemia syndrome is a rare, inherited condition in which bones become abnormally dense and hard (osteopetrosis) while the immune ...

Autosomal recessive osteopetrosis type 7 (OPTB7) caused by mutations in TNFRSF11A is a very rare, inherited bone disease. It happens when both copies of the ...

Osteoclast-poor osteopetrosis with hypogammaglobulinemia is a very rare genetic disorder in which bones become too dense and hard because the body cannot make ...

Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia is a genetic bone and immune disorder. “Osteopetrosis” means the bones look very ...

Autosomal recessive osteopetrosis-7 is a severe, infant-onset, osteoclast-poor form of osteopetrosis caused by biallelic pathogenic variants in TNFRSF11A ...

PLEKHM1-related autosomal recessive osteopetrosis is a rare genetic bone disease. It happens when a child inherits two non-working copies of the PLEKHM1 gene, ...

Autosomal recessive osteopetrosis type 6 is a rare inherited bone disease. the bones look very dense on x-ray, but they are brittle and can break easily. the ...

Autosomal recessive osteopetrosis, intermediate form, is a rare genetic bone disorder. Bones become abnormally dense and heavy, but they are also brittle. The ...

Autosomal recessive osteopetrosis 6 is a rare, inherited bone condition. The bones become abnormally dense and hard, but at the same time brittle and fragile. ...

OSTM1-related autosomal recessive osteopetrosis is a very rare, inherited bone disease. It happens when a child inherits two non-working copies of a gene ...

Autosomal recessive osteopetrosis type 5 is a very rare, severe bone disease that starts in early infancy. It happens when both copies of the OSTM1 gene have ...

Autosomal recessive osteopetrosis-5 (ARO5) is a very severe, inherited bone disease that begins in infancy. It is caused by harmful changes (mutations) in a ...

TNFSF11-related autosomal recessive osteopetrosis is a very rare bone disease present from birth. It happens when both copies of the TNFSF11 gene do not work ...

TNFSF11 autosomal recessive malignant osteopetrosis is a severe genetic bone disease that starts in infancy. The TNFSF11 gene makes a signal called RANKL. ...

Osteoclast-poor osteopetrosis is a very rare, inherited bone disease. In this condition, the body cannot make enough working osteoclasts. Osteoclasts are the ...

Autosomal recessive malignant osteopetrosis due to TNFSF11 mutation is a rare, severe bone disease that starts in early life. The body makes bone but cannot ...