Fetal Akinesia Deformation Sequence 1 (FADS1)

Alias:

Fetal Akinesia Deformation Sequence

Fads

Pena-Shokeir Syndrome Type 1

Arthrogryposis Multiplex Congenita-Pulmonary Hypoplasia Syndrome

Fetal Akinesia Sequence

Fads1

Arthrogryposis Multiplex Congenita with Pulmonary Hypoplasia

Arthrogryposis Multiplex Congenita Pulmonary Hypoplasia

Fetal Akinesia Deformation Sequence Syndrome

Fetal Akinesia Deformation Sequence Syndrome 1

Foetal Akinesia Deformation Sequence Syndrome

Akinesia, Fetal, Deformation Sequence, Type 1

Akinesia, Fetal, Deformation Sequence

Pena-Shokeir Syndrome, Type I

Pena Shokeir Syndrome, Type 1

Pena-Shokeir Syndrome Type I

Foetal Akinesia Sequence

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Fetal Akinesia Deformation Sequence 1, also known as fetal akinesia deformation sequence, is related to multiple pterygium syndrome, escobar variant and polyhydramnios. An important gene associated with Fetal Akinesia Deformation Sequence 1 is MUSK (Muscle Associated Receptor Tyrosine Kinase), and among its related pathways/superpathways is Agrin Interactions at Neuromuscular Junction. The drugs Borage oil and Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include lung and placenta, and related phenotypes are respiratory insufficiency and intrauterine growth retardation

Related ID：

MALACARDS：FTL069

OMIM：208150

MESH：C536647