The phenotype of<unk>  is highly varied and is<unk> scribed as a spectrum; from Classic<unk>  (with a greater number of key features) to mild variations with only a few features. Some people will have a small number of features but don't have<unk> . Key features: * Long and/or thick eyebrows * Short nose * Concave nasal ridge and/or upturned nasal tip * Long and/or smooth philtrum * Thin upper lip vermilion and/or downturned corners of mouth * Missing fingers or toes * Congenital diaphragmatic hernia Other suggestive features: *<unk> velopmental<unk> lay and/or intellectual disability * Small prenatal and birth size / weight * Small stature * Microcephaly (prenatally and/or postnatally) * Small hands and/or feet * Short fifth finger * Hirsutism The following health conditions are more common in people with<unk>  than in the general population. * Respiratory illness * Heart<unk> fects (e.g., pulmonary stenosis, VSD, ASD, coarctation of the aorta) * Hearing impairment * Vision abnormalities (e.g., ptosis, nystagmus, high myopia, hypertropia) * Partial joining of the second and third toes * Incurved 5th fingers (clinodactyly) * Gastroesophageal reflux * Gastrointestinal abnormalities * Musculoskeletal problems * Scoliosis * Social anxiety * Seizures * Cleft palate * Feeding problems Children with this syndrome are often found to have long eyelashes, bushy eyebrows and synophrys (joined eyebrows). Body hair can be excessive and affected individuals are often shorter than their immediate family members. They present a characteristic facial phenotype. Children with<unk>  often suffer from gastrointestinal tract difficulties, particularly gastroesophageal reflux. Vomiting, intermittent poor appetite, constipation, diarrhea or gaseous distention are known to be a regularity in cases where the GI tract problems are acute. Symptoms may<unk>  from mild to severe. People with<unk>  may exhibit behaviours that have been<unk> scribed as "autistic-like," including self-stimulation, aggression, self-injury or strong preference to a structured routine. Behavior problems in<unk>  are not inevitable. Many behaviour issues associated with<unk>  are reactive (i.e., something happens within the person's body or environment to bring on the behavior) and cyclical (comes and goes). Often, an underlying medical issue, pain, social anxiety, environmental or caregiver stress can be associated with a change behaviour. If pain or a medical issue is the cause, once treated, the behaviour diminishes. There is evidence for some features of premature aging including the early<unk> velopment of Barrett’s esophagus, osteoporosis present in the teenage years, premature greying of hair and some changes to the skin of the face causing a more aged appearance compared to chronological age.
Cornelia de Lange syndrome
Lesch–Nyhan syndrome
Axenfeld–Rieger syndrome
Kufor–Rakeb syndrome
Foster Kennedy syndrome
Pelizaeus–Merzbacher disease
Joubert syndrome
TORCH syndrome