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

Autosomal recessive inheritance, a 25% chance

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

Treatment is generally symptomatic and supportive.

NIH genetic and rare disease info

• NIH info on Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia

Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare disease.