Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
MONDO:0007588Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome is a rare, genetic, malformation syndrome with short stature characterized by microcephaly, borderline intellectual disability, hyperpigmentation of the skin, short stature, and ventricular extrasystoles. Cardiac syncope may also be associated. There have been no further descriptions in the literature since 1975.
Also known as: Char-Douglas-Dungan syndrome, extrasystoles, multiform ventricular, with short stature, hyperpigmentation and microcephaly
12 clinical trials for this condition and its sub-types.
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Disease
(618)
Skin disorder
(123)
Human disease
(14)
Hyperpigmentation of the skin
(11)
Skin pigmentation disorder
(11)
Developmental defect during embryogenesis
(7)
Multiple congenital anomalies/dysmorphic syndrome
(1)
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
(1)
Disease by body system or component
(0)
Disease by developmental or physiological process
(0)