Cri-du-chat syndrome

From Ganfyd

• High-pitched cat-like cry in neonate (due specifically to 5p15.32 deletion)
• Microcephaly
• Round face
• Hypertelorism
• Micrognathia
• Epicanthal folds
• Low-set ears
• Hypotonia
• Severe psychomotor and mental retardation
• Death usually in early childhood
• Adult survivors develop thin, narrow face with prominent nasal bridge

Usually is due to deletion of tip of short arm of chromosome 5, and so catches the gene for the protein subunit of telomerase reverse transcriptase.