Congenital hypotrichosis with juvenile macular dystrophy

MONDO:0011107

A very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

Also known as: HJMD, Hjmd, hypotrichosis with cone-rod dystrophy, hypotrichosis with juvenile macular dystrophy, hypotrichosis with juvenile macular degeneration, hypotrichosis, congenital, with juvenile macular dystrophy, juvenile macular degeneration and hypotrichosis, juvenile macular dystrophy and congenital hypotrichosis

7 clinical trials for this condition and its sub-types.

Follow this condition — get notified about new trials

Broader categories

Disease (618) Hereditary disease (172) Skin disorder (123) Syndromic disease (24) Human disease (14) Disorder of pilosebaceous unit (7) Hereditary skin disorder (5) Ectodermal dysplasia syndrome (3) Hypotrichosis (3) Disease of genetic or genomic mechanism (2)

Trials to join now! 4 Not yet recruiting 1 Not yet finished but already full! 1 Completed 1

Skin deep: european study probes the hidden emotional toll of skin diseases

Knowledge-focused Not yet recruiting

This study looks at how people with skin conditions (like eczema, psoriasis, or skin cancer) manage stress, feel lonely, and bounce back from challenges. Researchers will compare 375 adults with and without skin disease across 15 European countries using questionnaires. The goal …

Phase: NA • Sponsor: University Hospital, Brest • Aim: Knowledge-focused

Last updated Jun 27, 2026 13:06 UTC

Congenital hypotrichosis with juvenile macular dystrophy

Broader categories

Skin deep: european study probes the hidden emotional toll of skin diseases