Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome

Orpha code: 1964OMIM code: 133750

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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