Pectus excavatum-macrocephaly-dysplastic nails syndrome

Orpha code: 2835OMIM code: 600399

Definition

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
Classification

Malformation syndrome

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

No additional description.

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