Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1b (CPSFS1B)

Alias:

Autosomal Recessive Multiple Pterygium Syndrome

Contractures, Pterygia, and Variable Skeletal Fusions Syndrome 1b

Autosomal Recessive Non-Lethal Multiple Pterygium Syndrome

Escobar Variant Multiple Pterygium Syndrome

Escobar Syndrome

Cpsfs1b

Evmps

Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome, Type 1b

Cpskf1b

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1b, also known as autosomal recessive multiple pterygium syndrome, is related to multiple pterygium syndrome, escobar variant and contractures, pterygia, and spondylocarpotarsal fusion syndrome. An important gene associated with Contractures, Pterygia, and Spondylocarpotarsal Fusion Syndrome 1b is MYH3 (Myosin Heavy Chain 3). Affiliated tissues include testes and skin, and related phenotypes are scoliosis and webbed neck

Related ID：

MALACARDS：CNT117

OMIM：618469

MESH：D001176