Hypotrichosis with juvenile macular degeneration

Orpha code: 1573OMIM code: 601553

Definition

Hypotrichosis with juvenile macular degeneration (HJMD) is a very rare syndrome characterized by sparse and short hair from birth followed by progressive macular degeneration leading to blindness.

Disease data
Classification

Malformation syndrome

Synonyms
HJMD
Hipotrichoza z młodzieńczą dystrofią plamki
HJMD
Hypotrichosis with juvenile macular dystrophy
ORPHA code
1573
OMIM code
601553
ICD10 code
Q84.0
ICD11 code
LD27.0Y

No additional description.

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