WebDown syndrome is an anomaly of chromosome 21 that can cause intellectual disability Intellectual Disability Intellectual disability is characterized ... of the neck are common. The eyes are slanted upward, and epicanthal folds at the inner corners usually are present. Brushfield spots (gray to white spots resembling grains of salt around the ...

Physical and Health Features of Down Syndrome

WebMedGen UID: 763187. • Concept ID: C3550273. •. Disease or Syndrome. The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies ... WebLopp, OD Brushfield spots Brushfield spots are a type of iris feature that is found in 90% of patients having Down syndrome. [milesresearch.com] Some chromosome disorders have characteristic iris findings including trisomy 21 (Down syndrome) where Brushfield spots may occur (figure 2), and Williams syndrome – a condition [ncbi.nlm.nih.gov] outward join holy mission

Brushfield Spots Pictures, Causes, Symptoms, Treatment

WebBrushfield Spots & Epicanthal Folds Symptom Checker: Possible causes include Trisomy 21. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search. WebApr 21, 2024 · Down syndrome is by far the most common and best known chromosomal disorder in humans and the most common cause of intellectual disability. It is characterized by intellectual disability , dysmorphic facial features, and other distinctive phenotypic traits. ... Up-slanting palpebral fissures, bilateral medial epicanthal folds, Brushfield spots ... WebCauses. In most cases, Down syndrome occurs when there is an extra copy of chromosome 21. This form of Down syndrome is called trisomy 21. The extra chromosome causes … raith developments limited