inheritance. RSPO2 and WNT3 genes Researchers have found loss-of-function mutations in the WNT3 or the RSPO2 genes in people with<unk>  from several consanguineous families. These two gene encode proteins belonging to the WNT pathway which plays critical roles during development. The protein produced from the WNT3 and RSPO2 genes are involved in the formation of the limbs and other body systems during embryonic development. Mutations in the WNT3 or RSPO2 genes prevent cells from producing functional WNT3 and RSPO2 proteins, which disrupts normal limb formation and leads to the other serious birth defects associated with<unk> . According to a 2018 study by Bruno Reversade, the loss of RSPO2, unlike WNT3, also prevents formation of the lungs causing a lethal<unk>  of<unk><unk> . Inheritance within families In most of the families reported so far,<unk>  appears to have an autosomal recessive pattern of inheritance. This means the defective gene responsible for the disorder is located on an autosome , and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Tetra-amelia syndrome
Fox–Fordyce disease
Pott disease
Kyrle disease
Sabinas brittle hair syndrome
Salla disease
Carey Fineman Ziter syndrome
Degos disease