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SOFT syndrome, also known for the name its acronym originates from: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, is a rare genetic disorder characterized by the presence of short stature, underdeveloped nails, facial dysmorphisms (such as long triangular face, down-slanting palpebral fissures, etc.), and hair sparcity across the body. [1]
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Aside from intellectual disability, prominent characteristics of the syndrome may include an elongated face, large or protruding ears, flat feet, larger testes (macroorchidism), and low muscle tone. [11] [12] Recurrent otitis media (middle ear infection) and sinusitis is common during early childhood.
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Bovine facies (or cow face) – craniofacial dysostosis or Crouzon syndrome; Marshall halls facies – hydrocephalus; Frog face – intranasal disease; Coarse facies – many inborn errors of metabolism; Adenoid facies – developmental facial traits caused by adenoid hypertrophy, nasal airway obstruction and mouthbreathing; really a form of ...