Van den Ende-Gupta syndrome
Van den Ende-Gupta syndrome is a very rare syndrome characterized by blepharophimosis, arachnodactyly, joint contractures, and characteristic dysmorphic features
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Summary
Van den Ende-Gupta syndrome is a malformation syndrome[1]. It is known by 10 alternative names across languages and contexts.[2]
Key Facts
- Van den Ende-Gupta syndrome's instance of is recorded as malformation syndrome[3].
- Van den Ende-Gupta syndrome's instance of is recorded as head and neck disease[4].
- Van den Ende-Gupta syndrome's instance of is recorded as developmental defect during embryogenesis[5].
- Van den Ende-Gupta syndrome's instance of is recorded as rare disease[6].
- Van den Ende-Gupta syndrome's instance of is recorded as class of disease[7].
- Van den Ende-Gupta syndrome is a type of neurogenic arthrogryposis multiplex congenita[8].
- Van den Ende-Gupta syndrome is a type of multiple congenital anomalies/dysmorphic syndrome without intellectual disability[9].
- Van den Ende-Gupta syndrome is a type of arthrogryposis multiplex congenita[10].
- Van den Ende-Gupta syndrome is a type of syndrome or malformation associated with head and neck malformations[11].
- Van den Ende-Gupta syndrome is a type of syndrome[12].
- Van den Ende-Gupta syndrome is a type of autosomal recessive disease[13].
- Van den Ende-Gupta syndrome's genetic association is recorded as SCARF2[14].
- Van den Ende-Gupta syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2460[15].
- Van den Ende-Gupta syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0111699[16].
- Van den Ende-Gupta syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0111699[17].
Why It Matters
Van den Ende-Gupta syndrome is known by 10 alternative names across languages and contexts.[2]