Which are the symptoms of Monosomy 18p / De Grouchy syndrome?

Monosomy 18p, also known as De Grouchy syndrome, is a rare genetic disorder caused by the deletion of a portion of the short arm of chromosome 18 (18p-). This chromosomal abnormality leads to a wide range of physical and developmental symptoms that can vary in severity from person to person.

Physical features: Individuals with Monosomy 18p may exhibit distinct physical characteristics, although these can also be subtle and easily overlooked. Some common physical features include a small head (microcephaly), low-set ears, a short neck, a flat nasal bridge, a small mouth, and a prominent upper lip. Additionally, individuals may have widely spaced eyes (hypertelorism), droopy eyelids (ptosis), and a small jaw (micrognathia).

Growth and development: Growth and developmental delays are common in individuals with Monosomy 18p. Babies may have low birth weight and experience difficulties with feeding. They may also have delayed motor skills, such as sitting, crawling, and walking. Intellectual disability is often present, ranging from mild to severe. Language and speech delays are also common, with some individuals being nonverbal.

Behavioral and cognitive: Individuals with Monosomy 18p may exhibit behavioral and cognitive challenges. They may have attention deficit hyperactivity disorder (ADHD) or other behavioral issues, such as impulsivity and aggression. Cognitive abilities can vary widely, with some individuals having learning disabilities and others having average intelligence.

Organ abnormalities: Some individuals with Monosomy 18p may have structural abnormalities in various organs. These can include heart defects, kidney abnormalities, gastrointestinal issues, and genital abnormalities. It is important for individuals with Monosomy 18p to undergo regular medical evaluations to monitor and manage any potential organ-related complications.

Other features: There are additional features that can be associated with Monosomy 18p, although they may not be present in all individuals. These can include hearing loss, vision problems, dental abnormalities, skeletal abnormalities, and immune system deficiencies.

It is important to note that the symptoms and severity of Monosomy 18p can vary widely among affected individuals. Some individuals may have milder symptoms and lead relatively independent lives, while others may require significant support and care throughout their lives. Early intervention and ongoing medical management can help address specific symptoms and improve overall quality of life.