Hallermann–Streiff syndrome is a congenital disorder that affects growth, cranial development, hair growth and dental development. There are fewer than 200 people with the syndrome worldwide

1. MIDHUN M NAIR
Pharm D intern

2. DEFINITION
 Hallermann-Streiff syndrome is a rare, congenital
condition characterized mainly by abnormalities of the
skull and facial bones; characteristic facial features;
sparse hair; eye abnormalities; dental defects;
degenerative skin changes; and proportionate short
stature.
 Patients with this syndrome are shorter than the average
person and may not develop hair in many places,
including in the facial, leg and pubic areas. Patients also
have eye problems including clouded eyes or reduced eye
size, bilateral cataracts and glaucoma.

3. 20 yr old michelle
fighting with
hallermann streiff
syndrome

4. CAUSE
 The genetic cause of Hallerman-Streiff syndrome has not been
identified. It reportedly typically occurs randomly for unknown
reasons (sporadically), most likely due to a new spontaneous
mutation in the affected individual.
 Inheritance
 The majority of cases of Hallermann-Streiff syndrome appear to
be sporadic (occurring in individuals with no history of the
condition in the family). There have been reports of affected
individuals having multiple, unaffected children. Although some
have reported it appears to be inherited in an autosomal recessive
manner in a small number of cases, others have argued that there
is little evidence for this being a recessively inherited disorder.
Therefore, the mode of inheritance of the condition remains
unclear.

5.  Dwarfism
 Reduced or absent hair
 Small eyes
 Cataracts
 Glaucoma
 Short skull
 Prominent forehead
 Beaked nose
 Small jaw
 Dental anomalies
 Sparse eyebrows
 Sparse eyelashes
 Blue eyes
 Small mouth
 Thin lips
 Sleep apnea
 Frequent lung infection
 Winged shoulder blade
SYMPTOMS

6. COMPLICATIONS
 Complications and sequelae of Hallermann-Streiff
Syndrome from the Diseases Database include:
 Alopecia
 Cataracts
 Osteoporosis
 Short stature
 Microphthalmos

7. DIAGNOSTIC CRITERIA FOR
HSS
 1. Dyscephalia and bird-like facies
 2. Abnormal dentition
 3. Hypotrichosis
 4. Atrophy of skin especially on the nose
 5. Congenital cataracts
 6. Bilateral microphthalmia
 7 . Proportionate dwarfism

8. DIAGNOSIS
 These home medical tests may be relevant to
Hallermann-Streiff Syndrome:
 Child Behavior: Home Testing
 ADHD -- Home Test Kits
 Concentration -- Home Testing
 Child General Health: Home Testing
 Asthma-Related Home Tests

9. TREATMENT
 Treatment for Hallermann-Streiff syndrome depends on the
specific signs and symptoms present in each affected
individual. Early disease management for infants may include
monitoring of breathing, consideration of tracheostomy, and
various measures to improve feeding and ensure sufficient
intake of nutrients. Although early surgical removal of
cataracts may be recommended to help preserve vision, some
studies have suggested that spontaneous cataract absorption
may occur in up to 50% of untreated patients. Regular
appointments with an ophthalmologist are strongly
recommended to identify and treat other eye abnormalities,
some of which may require surgical intervention.

10. CASE REPORT

11. The patient was an 8yr old female child with known history
of Hallermann strieff syndrome by birth, had the complaints
of white reflex in left eye and discharge from both ears.
Patient was unable to speak and her eyes was not open
completely(microphthalmia). Hypopigmented hairs and
small head size (microcephaly).
CASE

12. These are the investigations done to the child
 CBC
 PSS
 MRI BRAIN
 BERA (brainstem evoked response audiometry)
 ENT REFERENCE FOR CSOM

13. Here the patient is treated with
• Multivitamins
• Antibiotics (syrup clavum)
• Antifungal agents (triben plus syrup) - ear
discharge may be due to fungal infections.
• The patient also has done cataract surgery to gain
vision.

14. LIFE STYLE MODIFICATIONS
 Dental assessments and hygiene are of utmost
importance in these children with a good oral
hygiene regimen and nutritional recommendations.
Facial contouring plastic surgery and mandibular
contouring surgery could be performed for the face.
 Regular visual assessment and maintenance is
important. Early surgical correction is a must in
cases with congenital cataract.