C syndrome
C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability
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C syndrome
Summary
C syndrome is a developmental defect during embryogenesis[1]. It is known by 15 alternative names across languages and contexts.[2]
Key Facts
- C syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- C syndrome's instance of is recorded as rare disease[4].
- C syndrome's instance of is recorded as class of disease[5].
- C syndrome is a type of trigonocephaly[6].
- C syndrome is a type of genetic syndromic intellectual disability[7].
- C syndrome is a type of syndromic craniosynostosis[8].
- C syndrome is a type of multiple congenital anomalies/dysmorphic syndrome-intellectual disability[9].
- C syndrome is a type of syndrome[10].
- C syndrome is a type of autosomal dominant disease[11].
- C syndrome's genetic association is recorded as CD96[12].
- C syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1308[13].
- C syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111581[14].
- C syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111581[15].
Why It Matters
C syndrome is known by 15 alternative names across languages and contexts.[2]