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Digitotalar dysmorphism

disorder
SNOMED 715314008CUI C0220662

Overview

Source: MedlinePlus.gov, National Library of Medicine. Not a substitute for medical advice.

Signs & Symptoms

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

Overlapping fingers
Very frequent (80-99%)HP:0010557
Thumb-in-palm pattern
Very frequent (80-99%)HP:0001181
Aplasia of the distal interphalangeal creases
Frequent (30-79%)HP:0001032
Camptodactyly
Frequent (30-79%)HP:0012385
Fetal foot inversion
Frequent (30-79%)HP:0001762
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Stiff joint
Frequent (30-79%)HP:0001387
Talipes
Frequent (30-79%)HP:0001883
Ulnar deviation of the hand or of fingers of the hand
Frequent (30-79%)HP:0001193
Ulnar Drift
Frequent (30-79%)HP:0009465
Abnormality of the hips
Occasional (5-29%)HP:0003272
Narrow mouth
Occasional (5-29%)HP:0000160
Rocker bottom feet
Occasional (5-29%)HP:0001838
Sensorineural deafness
Very rare (1-4%)HP:0000407
Arthrogryposis multiplex
HP:0002804
Calcaneovalgus Foot
HP:0001848
Cobb angle greater than ten degrees
HP:0002650
Congenital hip dislocations
HP:0001374
Contractures of the hands
HP:0009473
Cryptorchidism
HP:0000028
Decrease in jaw mobility
HP:0000211
Decreased body height
HP:0004322
Decreased hip abduction
HP:0003184
Eye drop
HP:0000508
Fixed flexion at the elbow joint
HP:0002987
Flexion contractures of hips
HP:0003273
Generalised decreased muscle tone
HP:0001290
Inability to straighten knee
HP:0006380
Long nasal bridge
HP:0033142
Low-set ears
HP:0000369

Quick Facts

SNOMED CT
715314008
UMLS CUI
C0220662
Fully Specified Name
Distal arthrogryposis type 1 (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.