Mutations in the gene Myomaker (MYMK) have been shown to be responsible for this condition. The gene is located on the long arm of chromosome 9 (9q34.2). Inheritance is autosomal recessive.
Carey Fineman Ziter syndrome
Sabinas brittle hair syndrome
Rosenthal–Kloepfer syndrome
Weissenbacher–Zweymüller syndrome
Schinzel–Giedion syndrome
Tetra-amelia syndrome
Galloway Mowat syndrome
Melkersson–Rosenthal syndrome