Mesomelia-Synostoses Syndrome

Mesomelia-Synostoses Syndrome(来自ICD-11)

别称:

Mesomelic Dysplasia with Acral Synostoses, Verloes-David-Pfeiffer Type

Mesomelia-Synostoses Syndrome, Verloes-David-Pfeiffer Type

8q13 Microdeletion Syndrome

Verloes-David Syndrome

Monosomy 8q13

Del(8)q(13)

Chromosome 8q13 Deletion Syndrome

Mesomelic Dysplasia, Syndromic

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Mesomelia-Synostoses Syndrome, also known as mesomelic dysplasia with acral synostoses, verloes-david-pfeiffer type, is related to hypertelorism and ptosis. An important gene associated with Mesomelia-Synostoses Syndrome is DEL8Q13 (Mesomelia-Synostoses Syndrome). Affiliated tissues include bone and heart, and related phenotypes are ptosis and skeletal dysplasia

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