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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%)
- Abnormality of the dentition
- Alopecia – complete or partial hair loss
- Brachycephaly
- Convex nasal ridge
- Dermal atrophy
- Developmental cataract
- Frontal bossing
- Hypotrichosis
- Microphthalmia
- Proportionate short stature
- Reduced bone mineral density
- Rib exostoses
- Short ribs
- 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
How is Hallermann Streiff syndrome diagnosed?
- Clinical evaluation
- Detailed patient history
- Radiographic Diagnostic Tests
- Ophthalmologic Studies
- Dental studies
The above specialized Diagnostic tests might help to detect and characterize the abnormalities associated with this disorder.
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
Differential Diagnosis
- Wiedemann-Rautenstrauch syndrome (also known as neonatal progeroid syndrome)
- Osteodysplastic bird-headed dwarfism, also known as Majewski osteodysplastic primordial dwarfism (MOPD)
- Hutchinson-Gilford progeria syndrome
- MICRO syndrome
- Seckel syndrome
- An early onset Cockayne syndrome
