Multiple Synostoses Syndrome 1 (SYNS1)

Alias:

Symphalangism-Brachydactyly Syndrome

Syns1

Deafness-Symphalangism Syndrome of Herrmann

Facioaudiosymphalangism Syndrome

Wl Syndrome

Synostoses, Multiple, with Brachydactyly

Synostoses Multiple with Brachydactyly

Synostoses, Multiple Syndrome, Type 1

Synostoses Syndrome, Multiple, 1

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Multiple Synostoses Syndrome 1, also known as symphalangism-brachydactyly syndrome, is related to photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction and multiple synostoses syndrome 2, and has symptoms including waddling gait An important gene associated with Multiple Synostoses Syndrome 1 is NOG (Noggin). Affiliated tissues include bone and skin, and related phenotypes are thin upper lip vermilion and hypermetropia

Related ID：

MALACARDS：MLT059

OMIM：186500

MESH：D013580