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Van den Ende-Gupta syndrome

disorder
SNOMED 719845008CUI C1833136

Overview

Van den Ende-Gupta syndrome is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Camptodactyly of 2nd-5th fingers
Always present (100%)HP:0001215
Cutaneous 2,3 toe syndactyly
Always present (100%)HP:0005709
Fallen arches
Always present (100%)HP:0001763
Fixed flexion at the elbow joint
Always present (100%)HP:0002987
Genu valga
Always present (100%)HP:0002857
Hooked nose
Always present (100%)HP:0000444
Hypoplastic distal ulna
Always present (100%)HP:0005033
Joint ligamentous laxity
Always present (100%)HP:0001382
Large halluces
Always present (100%)HP:0001847
Narrow, high-arched roof of mouth
Always present (100%)HP:0002705
Radioulnar subluxation
Always present (100%)HP:6000506
Recurrent patellar dislocation
Always present (100%)HP:0005001
Scaphocephaly
Always present (100%)HP:0030799
Small earlobes
Always present (100%)HP:0000385
Small upper jaw
Always present (100%)HP:0000327
Tapering fingers
Always present (100%)HP:0001182
Arachnodactyly
Very frequent (80-99%)HP:0001166
Blepharophimosis
Very frequent (80-99%)HP:0000581
Camptodactyly
Very frequent (80-99%)HP:0012385
Eclabium of lower lip
Very frequent (80-99%)HP:0000232
Hypotrophic malar bone
Very frequent (80-99%)HP:0000272
Bowed long bones
Frequent (30-79%)HP:0006487
Depressed nasal root/bridge
Frequent (30-79%)HP:0005280
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Elbow contracture
Frequent (30-79%)HP:0034391
High arched palate
Frequent (30-79%)HP:0000218
Hook-shaped clavicle
Frequent (30-79%)HP:0000895
Inverted triangular face
Frequent (30-79%)HP:0000325
Joint contracture
Frequent (30-79%)HP:0034392
Lateral deviation of halluces
Frequent (30-79%)HP:0001822

Related Conditions

Inherited arthrogryposis(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Arthrogryposis multiplex congenita(parent)

Quick Facts

SNOMED CT
719845008
UMLS CUI
C1833136
Fully Specified Name
Van den Ende-Gupta syndrome (disorder)
Specialists
0
Diagnostic Biomarkers
0
HPO Phenotypes
30
Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.