Orphanet: Pectus excavatum macrocephaly dysplastic nails syndrome

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Pectus excavatum-macrocephaly-dysplastic nails syndrome

Disease 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.

ORPHA:2835

Classification level: Disorder

Synonym(s):
- Zori-Stalker-Williams syndrome
Prevalence: <1 / 1 000 000
Inheritance: Unknown
Age of onset: Neonatal
ICD-10: -
OMIM: 600399
UMLS: C2931302
MeSH: -
GARD: 374
MedDRA: -

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Pectus excavatum-macrocephaly-dysplastic nails syndrome

ORPHA:2835

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