Until recently, doctors have diagnosed patients with FHS based on clinical observations and how well they fit the disease description, usually occurring in early childhood. Molecular genetic testing is also used now to test for genetic mutations. By performing a sequence analysis test of select exons, mutations can be detected in exon 34 of the SRCAP gene. This mutation has been observed in 19 patients to date. In most cases, if the patient shows classic facial features of FHS, the molecular testing will show a mutation on the SRCAP gene. Differential diagnosis FHS shares some common features with Rubinstein–Taybi (due to overlapping effects of mutations on SRCAP), however cranial and hand anomalies are distinctive: broad thumbs, narrow palate, and microcephaly are absent in<unk> . One child in the UK has a diagnosis of microcephaly alongside<unk> .
Floating–Harbor syndrome
Cooks syndrome
Johanson–Blizzard syndrome
Mallory–Weiss syndrome
Bloom syndrome
Plummer–Vinson syndrome
Fitz-Hugh–Curtis syndrome
Ogilvie syndrome