A genetic disorder with several developmental anomalies, affecting the physical and intellectual development of a child.
Cause(s) :
Genetic mutations of unknown origin
Mutations affecting cohesion complex
Symptoms :
Low birth weight
Delayed growth, small stature and small head size
Developmental delays
Facial features: Long eyelashes, thick eyebrows - meeting at midlien, small widely spaced teeth, low-set ears, short upturned nose and thin downturned lips.
Cleft palate
Feeding problems
Excessive body hair
Visual and hearing impairments
Small hands and feet
Partial joining of the second and third toes
Incurved 5th fingers
Hypoplastic genitalia
Gastroesophageal reflux and GI tract difficulties like poor appetite, diarrhea, gaseous distention
Heart defects like pulmonary stenosis, Ventricular and atrial septal defects, coarctation of the aorta)
Behaviour problems like self-stimulation, aggression, self-injury or strong preference to a structured routine.
Comments should be on the topic and should not be abusive. The editorial team reserves the right to review and moderate the comments posted on the site.
Careers
