Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Orpha code: 1964OMIM code: 133750

Definition

Extrasystoles-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.

Disease data
Classification

Malformation syndrome

Synonyms
Char-Douglas-Dungan syndrome
Zespół Char, Douglasa i Dungana
ORPHA code
1964
OMIM code
133750
ICD10 code
-
ICD11 code
-

No additional description.

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