Sugarman Brachydactyly

Alias:

Brachydactyly with Major Proximal Phalangeal Shortening

Sugarman-Hager-Kulik Syndrome

Orofaciodigital Syndrome 3

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Sugarman Brachydactyly, also known as brachydactyly with major proximal phalangeal shortening, is related to acromesomelic dysplasia 2c and acromesomelic dysplasia 2a, and has symptoms including myoclonus An important gene associated with Sugarman Brachydactyly is BMPR1B (Bone Morphogenetic Protein Receptor Type 1B), and among its related pathways/superpathways are Primary ovarian insufficiency and Mesenchymal Stem Cells and Lineage-specific Markers. Affiliated tissues include bone, and related phenotypes are brachydactyly and short proximal phalanx of finger

Related ID：

MALACARDS：SGR001

OMIM：272150