IllnessFloating-Harbor syndrome, differential dignosis

NGS +

Floating harbor syndrome (FHS) is a disorder associated with short stature, slow bone mineralization, delayed speech development and characteristic facial features. The growth disturbance usually becomes apparent in the first year of life, and bone age is delayed in early childhood, but usually normal by 6-12 years of age. The delay in expressive language can be severe, and most affected individuals have also mild intellectual disability. Typical facial features in FHS include a triangular face with a low hairline, deep-set eyes with long eyelashes as well as a large nose with an overhanging nasal bridge including a short philtrum and thin red lips. In addition, some patients have finger abnormalities (brachydactyly, drumstick fingers, clinodactyly). Other features may include a high-pitched voice, cryptorchidism and possibly other organ systems involved. The syndrome is inherited in autosomal dominant manner, but most patients have a de novo pathogenic variant. The final diagnosis of the syndrome depends on molecular genetic findings, so FHS is diagnosed with practical certainty.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK114458/

• Alias: Leisti-Hollander-Rimoin syndrome (SRCAP)
• Alias: Pelletier-Leisti syndrome (SRCAP)
• 3-M syndrome 1(CUL7)
• 3-M syndrome 2 (OBSL1)
• 3-M syndrome 3 (CCDC8)
• Broad thumbs, great toes, characteristic facies, mental retardation (CREBBP)
• Childhood apraxia of speech, Developmental verbal apraxia (FOXP2)
• Dolichospondylis dysplasia (CUL7)
• Gloomy face syndrome (CUL7)
• Le Merrer syndrome (CUL7)
• Menke-Hennekam syndrome 1 (CREBBP)
• Menke-Hennekam syndrome 2 (EP300)
• Rubinstein-Taybi syndrome 1 (CREBBP)
• Rubinstein-Taybi syndrome 2 (EP300)
• Speech and language disorder with orofacial dyspraxia (FOXP2)
• Speech-language disorder-1 (FOXP2)