Pectus excavatum-macrocephaly-dysplastic nails syndrome

Orpha code: 2835OMIM code: 600399

Definicja

Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Zori-Stalker-Williams syndrome
Zespół Zori, Stalkera i Williamsa
Kod ORPHA
2835
Kod OMIM
600399
Kod ICD10
Q87.5
Kod ICD11
-

No additional description.

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