Hallermann–Streiff syndrome is a congenital disorder that affects the eyes, general growth, cranial development, hair-growth, and dental development. There are fewer than 200 people with the syndrome worldwide. One notable organization that is supporting people with Hallermann–Streiff syndrome is the Germany-based "Schattenkinder e.V".

Presentation

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 reduced eye size, bilateral cataracts and glaucoma. The syndrome can be associated with sleep apnea. The physical characteristics of the syndrome can result in difficult intubation by medical professionals. Intelligence is usually normal.

Cause

This syndrome is hypothesized to be caused by a de novo mutation in the GJA1 gene which encodes the connexin 43 protein. Further studies are needed to confirm or deny the role of connexin proteins in this disorder.

Diagnosis

Diagnosis is based on the physical characteristics and symptoms.

Management of the condition may also include surgical reconstruction of certain craniofacial malformations (particularly in the mandibular and nasal region) at an appropriate age. Additionally, management for certain heart defects, such as medication or surgery, may be needed. who first described the syndrome in 1948 and 1950 respectively.

References

12. Shandilya VK, Parmar LD, Shandilya AV. Functional ambulation with bent knee prostheses for an adult with bilateral 90 degrees knee flexion contractures—A case report. J Family Med Prim Care [serial online] 2020 [cited 2020 Jun 2];9:2492-5. Available from: http://www.jfmpc.com/text.asp?2020/9/5/2492/285055

  • Jablonski's Syndrome Database