Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia
Other Names: HEDH syndrome; Hypohidrotic ectodermal dysplasia with hypothyroidism; Ectodermal dysplasia hypohidrotic with hypothyroidism and ciliary dyskinesia; Hypohidrotic ectodermal dysplasia - hypothyroidism - ciliary dyskinesia; ANOTHER syndrome
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia.
These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition.
Cause and inheritance
The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner.
Signs and symptoms For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. 80%-99% of people have these symptoms
- Alopecia(Hair loss)
- Behavioral abnormality(Behavioral changes)
- Ciliary dyskinesia
- Delayed skeletal maturation(Delayed bone maturation)
- Dystrophic fingernails(Poor fingernail formation)
- Dystrophic toenail(Poor toenail formation)
- Fine hair(Fine hair shaft)
- Hypohidrosis(Decreased ability to sweat)
- Hypothyroidism(Underactive thyroid)
- Recurrent respiratory infections(Frequent respiratory infections)
- Short stature(Decreased body height)
- Sparse and thin eyebrow(Thin, sparse eyebrows)
- Sparse scalp hair(Reduced/lack of hair on scalp)
30%-79% of people have these symptoms
- Lacrimation abnormality(Abnormality of tear production)
- Melanocytic nevus(Beauty mark)
Treatment[edit | edit source]
Treatment is generally symptomatic and supportive.
NIH genetic and rare disease info[edit source]
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare disease.
Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia Resources | |
---|---|
|
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
WikiMD's Wellness Encyclopedia |
Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
WikiMD is not a substitute for professional medical advice. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Deepika vegiraju