Schinzel-Giedion syndrome

Orpha code: 798OMIM code: 269150

Definition

Schinzel-Giedion syndrome (SGS) is an ectodermal dysplasia syndrome chiefly characterized by a distinctive facial dysmorphism, hydronephrosis, severe developmental delay, typical skeletal malformations, and genital and cardiac anomalies.

Disease data
Classification

Malformation syndrome

Synonyms
SGS
SGS
ORPHA code
798
OMIM code
269150
ICD10 code
Q87.0
ICD11 code
LD27.0Y

No additional description.

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