Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly (FUHRS)

Alias:
Fuhrmann Syndrome
Fibular Hypoplasia or Aplasia-Femoral Bowing-Oligodactyly Syndrome
Fuhrmann-Rieger-De Sousa Syndrome
Hypoplasia Femoral Bowing and Poly- Syn- and Oligodactyly
Fibular Aplasia
Fuhrs
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly, also known as fuhrmann syndrome, is related to ulna and fibula, absence of, with severe limb deficiency and split hand-foot malformation. An important gene associated with Fibular Aplasia or Hypoplasia, Femoral Bowing and Poly-, Syn-, and Oligodactyly is WNT7A (Wnt Family Member 7A), and among its related pathways/superpathways are Signal Transduction and GPCR downstream signalling. Affiliated tissues include bone and uterus, and related phenotypes are hypoplasia of the radius and aplasia/hypoplasia of the ulna
Related ID:

Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AR
Newborn
<1/1000000
17
189
8

Medical Symptom

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Description
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No data available

Gene & Mutation

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Disease Model

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References Literature

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