Split-Hand/foot Malformation 3 (SHFM3)

Alias:

Split Hand-Foot Malformation 3

Shfm3

Chromosome 10q24 Duplication Syndrome

Distal Limb Deficiencies-Micrognathia Syndrome

Limb Deficiencies, Distal, with Micrognathia

10q24 Microduplication Syndrome

Buttiens-Fryns Syndrome

Shsf3

Split-Hand/foot Malformation, Type 3, Gene Duplication Syndrome

Split-Hand/foot Malformation 3, Gene Duplication Syndrome

Distal Limb Deficiencies with Micrognathia

Limb Deficiencies Distal Micrognathia

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Split-Hand/foot Malformation 3, also known as split hand-foot malformation 3, is related to split-hand/foot malformation 1 and split-hand/foot malformation 2. An important gene associated with Split-Hand/foot Malformation 3 is SHFM3 (Split-Hand/Foot Malformation 3), and among its related pathways/superpathways are MECP2 and associated Rett syndrome and Validated transcriptional targets of TAp63 isoforms. Affiliated tissues include bone and retina, and related phenotypes are low-set, posteriorly rotated ears and microretrognathia

Related ID：

MALACARDS：SPL024

OMIM：246560

MESH：C574275