04/01/2026
✨ Unveiling Our Top 30 Conditions at DDC Clinic! ✨
We are highlighting the 30 most frequent genetic conditions we see here at DDC Clinic. Each post is dedicated to raising awareness, exploring unique facts, and detailing our specialized care. Follow along to learn about these rare genetic conditions!
Condition #18 at DDC Clinic is Amish Brittle Hair Syndrome!
What is it? Also known as Nonphotosensitive Trichothiodystrophy-4 (TTD4), this rare condition is caused by a change in the MPLKIP gene. This gene plays a vital role in regulating the cell cycle during cell division. When disrupted, it affects the development of various tissues, including the hair, skin, and nails.
Key symptoms:
🔹Hair and Nails: Brittle, sparse hair and nails that may be brittle or absent
🔹Growth and Development: Short stature, intellectual impairment, developmental delays
🔹Physical Features: Small head size (microcephaly), receding chin, large ears
🔹Skin: Dry, thick or scaly, often with a decreased ability to sweat
Under a polarizing microscope, the hair shows a distinct alternating light and dark pattern known as “tiger tail banding.”
Inheritance: Amish Brittle Hair Syndrome is an autosomal recessive condition. This means a patient must inherit two abnormal copies of the MPLKIP gene, one from each parent, to be affected.
Prevalence & Expertise: This condition has an estimated incidence of 1 in 1 million. While only about 100 individuals have been reported worldwide with the condition, we currently care for more than 10 patients with Amish Brittle Hair Syndrome. Testing for Amish Brittle Hair Syndrome is offered through our Genetic Awareness Panel (GAP) as well as through targeted testing.
Treatment, as with most rare genetic conditions, focuses on managing the symptoms through a multidisciplinary approach.
At DDC Clinic, we are committed to early diagnosis and management of Amish Brittle Hair Syndrome along with many other rare genetic conditions. We are proud to provide specialized, comprehensive care to our patients and families.