Schinzel–Giedion syndrome
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
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Schinzel–Giedion syndrome
Summary
Schinzel–Giedion syndrome is a developmental defect during embryogenesis[1]. It has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[2]
Key Facts
- Schinzel–Giedion syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- Schinzel–Giedion syndrome's instance of is recorded as rare disease[4].
- Schinzel–Giedion syndrome's instance of is recorded as class of disease[5].
- Schinzel–Giedion syndrome is a type of ectodermal dysplasia[6].
- Schinzel–Giedion syndrome is a type of syndromic renal or urinary tract malformation[7].
- Schinzel–Giedion syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome[8].
- Schinzel–Giedion syndrome is a type of polymalformative genetic syndrome with increased risk of developing cancer[9].
- Schinzel–Giedion syndrome is a type of genetic syndromic intellectual disability[10].
- Schinzel–Giedion syndrome's ICD-9-CM is recorded as 759.89[11].
- Schinzel–Giedion syndrome's NCI Thesaurus ID is recorded as C129308[12].
- Schinzel–Giedion syndrome's health specialty is recorded as neurology[13].
- Schinzel–Giedion syndrome's genetic association is recorded as SETBP1[14].
- Schinzel–Giedion syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_798[15].
Why It Matters
Schinzel–Giedion syndrome has Wikipedia articles in 5 language editions, a strong signal of global cultural recognition.[2] It is known by 3 alternative names across languages and contexts.[16]