Hallermann Streiff Syndrome (HSS) – 50 Symptoms and Signs, “bird faced but not bird brained”

What is Hallermann Streiff Syndrome (HSS)

Hallermann Streiff syndrome is a rare congenital disorder which typically affects the development of head and face.

The hallmarks of Hallermann Streiff Syndrome affected individuals are typical a ‘bird-like’ face with craniofacial malformations, sparse hair, degenerative skin changes, eye abnormalities, dental defects, and proportionate short stature.

HSS was first discovered by Aubry in 1893, It was Hallermann in 1948 who described completely 1948 and later by Streiff in 1950.

Synonyms

  • Francois Dyscephalic Syndrome
  • Oculomandibulofacial syndrome
  • Hallermann-Streiff-Francois syndrome
  • HSS
  • Oculomandibulodyscephaly with hypotrichosis

Age of onset

  • Neonatal
  • Infancy

Inheritance of HSS

Autosomal recessive

Etiology of HSS

Till date, the cause of Hallermann Streiff Syndrome is unidentified

Symptoms of Hallermann Streiff Syndrome

Very Common (80%-98%)

  1. Abnormality of the dentition 
  2. Alopecia – complete or partial hair loss
  3. Brachycephaly 
  4. Convex nasal ridge 
  5. Dermal atrophy 
  6. Developmental cataract 
  7. Frontal bossing 
  8. Hypotrichosis 
  9. Microphthalmia 
  10. Proportionate short stature 
  11. Reduced bone mineral density 
  12. Rib exostoses 
  13. Short ribs 
  14. Sparse body hair

Common Symptoms (30%-79%)

  • 15. Abnormality of hair texture 
  • 16. Abnormality of the fontanelles or cranial sutures 
  • 17. Abnormality of the tongue 
  • 18. Glossoptosis 
  • 19. High, narrow palate 
  • 20. Increased number of teeth 
  • 21. Malar flattening 
  • 22. Micrognathia 
  • 23. Narrow mouth 
  • 24. Natal tooth 
  • 25. Recurrent fractures 
  • 26. Sparse eyebrow 
  • 27. Sparse eyelashes 
  • 28. Telecanthus 
  • 29. Underdeveloped nasal alae 
  • 30. Visual impairment 

Occasional (5%-29%)

  • 31. Abdominal situs inversus 
  • 32. Abnormality of the skull 
  • 33. Cerebellar hypoplasia 
  • 34. Choanal atresia 
  • 35. Clinodactyly of the 5th finger 
  • 36. Congestive heart failure 
  • 37. Cryptorchidism 
  • 38. Glaucoma 
  • 39. Hypothyroidism 
  • 40. Intellectual disability 
  • 41. Malformation of the heart and great vessels 
  • 42. Microcephaly 
  • 43. Myopia 
  • 44. Nystagmus 
  • 45. Respiratory insufficiency 
  • 46. Short foot 
  • 47. Small hand 
  • 48. Strabismus 
  • 49. Tracheomalacia 
  • 50. Uveitis

Prognosis of HSS

Prognosis is good with early intervention which is important to ensure that children reach their maximum potential. 

Treatment

  • Genetic counseling
  • Special remedial education
  • Special social support
  • Physical therapy
  • Medical, social, and/or vocational services
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