Flat facies with oblique palpebral
fissures and epicanthic folds.
Nasal bone and nuchal fold are efficient markers for Down syndrome.
Absent nasal bone was a better predictor of Down syndrome, compared with nuchal fold, and should be a standard marker when a second-trimester
genetic sonogram is performed.
According to recent study
intelligence based on
facial appearance are unreliable even in groups characterized by a
genetic disorder such as Trisomy 21.
protruding tongue is large and wrinkled
Severe mental retardation. The
intelligence quotient (IQ) in most cases is lower than 50.
- Hands are broad and short and show transverse
Diagram of hand showing prominent transverse simian
- Feet : There is a gap between
the first and second toe in Down Syndrome - see the diagram below.
Congenital heart disease, especially
septal defects, responsible for the majority of deaths in infancy and
Cardiac defects include endocardial cushion, including ostium
primum, atrial septal defect, atrioventricular valve formation.
Cardiac Path Online
Heart in Down Syndrome
to 20-fold increased risk of developing acute leukemia.
Both acute lymphoblastic leukemias and acute non-lymphoblastic leukemias occur.
Megakaryocytic proliferative disorders are more common in patients with Down's
The spectrum of myeloproliferative disorders including
myelofibrosis, myeloid metaplasia, and megakaryoblastic leukemia is seen
in these patients.
hypothyroidism was the most common thyroid abnormality in children with
evaluation of thyroid function is needed to establish the natural course
of this abnormality and the proper management guideline.
Premature Alzheimer disease in those who
survive after 35 years of age.
of the brain
There is serious infections resulting from
abnormal immune responses. Lung infection is common.
The arthropathy of
Down syndrome is an underrecognized condition that results in chronic
disability and functional impairment in a population already at
Children with Down syndrome are predisposed to
autoimmune disorders, but arthritis is overlooked in surveillance
To maximize joint function and quality of life, providers
caring for children with Down syndrome need a high index of
suspicion for the related arthropathy.
- Ocular problems as
refractive errors, strabismus, accommodation, and cataract are well
known in children with
Other findings include
lens opacities abnormalities of the retinal vessels, foveal
hypoplasia, or retinal pigment epithelium hyperplasia and optic disc
Slanted eyes, epicanthic folds and
brushfield spots are characteristic features of the eye in Down