Hallerman syndrome, Streiff, François

Symptoms

• Bird's head appearance:
  • malformation of the skull and face (small)
  • small orbits
  • frontal hump protrusion
  • small face
  • thin, tapered nose, curved like a parrot's beak.
• Scaphocephaly: malformation of the skull characterized by a raised shape, excessively elongated from front to back, and flattened on the sides.
• Brachycephaly: skull truncated backward (seen from above, the skull is as wide as it is long)
• Microcephaly: skull dimensions smaller than the average for other children
• Retrognathism (term derived from retro, backward, and gnathos, jaw): deformation of the jaw that appears to be pushed back when viewed from the side. The lower jaw is not sufficiently developed. There is also a shortening of the ascending branches and a forward displacement of the temporomandibular joint. Sometimes, an absence of condyle is observed. The condyle is the bony end of each lower jaw. It is vertical and articulates on each side of the skull.
• Eye abnormalities:
  • cataract: clouding of the lens
  • strabismus
  • nystagmus: involuntary low-amplitude oscillating and rotating movements of the eyeball
  • sclera (white of the eye) blue
  • fundus abnormalities.
• Dental anomalies
  • irregularly placed teeth with abnormal shape
  • early caries
  • the teeth erupt haphazardly and some of them are missing.
• Fragility of the skeleton which most of the time allows the diagnosis to be made:
  • the ribs have a threadlike appearance
  • the bones are long (especially the fibula), the ulna, the radius and the bones of the hand as well.
• Skin and hair changes:
  • hypotrichosis (thinning of hair)
  • Insufficient height growth (in half of cases)