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Schinzel-Giedion syndrome
rareSchinzel-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.
- Identifiers
- MONDO:0010010 OMIM:269150Orphanet:798
- Causal genes
- SETBP1
- Part of
- Autosomal dominant syndromic intellectual disabilityCongenital nervous system disorderEctodermal dysplasia syndromeMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- Also known as
- Schinzel Giedion midface-retraction syndrome · Schinzel Giedion Syndrome · Schinzel-Giedion midface-retraction syndrome · SGS
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