Mesomelia-synostoses syndrome- MedGen UID:
- 324959
- •Concept ID:
- C1838162
- •
- Disease or Syndrome
The Verloes-David-Pfeiffer mesomelia-synostoses syndrome is an autosomal dominant form of mesomelic dysplasia comprising typical acral synostoses combined with ptosis, hypertelorism, palatal abnormality, congenital heart disease, and ureteral anomalies (summary by Isidor et al., 2009).
Mesomelia and synostoses are also cardinal features of the Kantaputra type of mesomelic dysplasia (156232).
Synpolydactyly type 2- MedGen UID:
- 331290
- •Concept ID:
- C1842422
- •
- Disease or Syndrome
Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene.
Cenani-Lenz syndactyly syndrome- MedGen UID:
- 395226
- •Concept ID:
- C1859309
- •
- Disease or Syndrome
Cenani-Lenz syndactyly syndrome (CLSS) is an autosomal recessive disorder characterized mainly by anomalies of distal limb development, with fusion and disorganization of metacarpal and phalangeal bones, radius and ulnar shortening, radioulnar synostosis, and severe syndactyly of hands and feet. Mild facial dysmorphism is present in most patients. Kidney anomalies, including renal agenesis and hypoplasia, occur in over half of patients (summary by Li et al., 2010).
Multiple synostoses syndrome 3- MedGen UID:
- 414116
- •Concept ID:
- C2751826
- •
- Disease or Syndrome
Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene.
Polydactyly, postaxial, type A5- MedGen UID:
- 763575
- •Concept ID:
- C3550661
- •
- Disease or Syndrome