Coffin-Siris Syndrome: A Review

Authors

  • S. Priyadharshini
  • R. Chandralekha

Keywords:

Coffin-Siris Syndrome, Causes, Genetic disorder, Pathophysiology, Variants

Abstract

Coffin-Siris Syndrome is an intriguing heredity that influences a few body frameworks including the skeletal framework, developments, vision, hearing, and speech. Variations cause it in one of a few qualities. The several symptoms are a wide mouth, thick lower lip, feeding difficulties, loose joints, etc. Aplasia or hypoplasia of the distal phalanx or nail of the fifth and subsequent digits, variable degrees of developmental or cognitive delay, characteristic facial features, hypotonia, hirsutism/hypertrichosis, and scant scalp hair are the traditional characteristics of Coffin-Siris syndrome (CSS). Deformities of the heart, digestive tract, genitourinary system, and/or central nervous system are examples of congenital abnormalities. Normal outcomes incorporate hearing hindrance, ophthalmologic irregularities, eating troubles, and sluggish development. There is no anticipation or standard treatment for the condition. The symptoms indicate the treatment, including educational services alongside physical, occupational, and speech therapy.

Published

2024-01-24

Issue

Section

Articles