<unk> , also known as Pelletier–Leisti syndrome, is a rare disease with fewer than 50 cases described in the literature. It is usually diagnosed in early childhood and is characterized by the triad of proportionate short stature with delayed bone age, characteristic facial appearance, and delayed speech development. Although its cause is unknown, it is thought to result from genetic mutation, and diagnosis is established by the presence of a heterozygous SRCAP mutation in those with clinical findings of FHS.
Floating–Harbor syndrome
Cooks syndrome
Johanson–Blizzard syndrome
Mallory–Weiss syndrome
Bloom syndrome
Plummer–Vinson syndrome
Fitz-Hugh–Curtis syndrome
Ogilvie syndrome