Overview
Deformity of limb is a finding that may indicate an underlying health condition requiring clinical evaluation.
Associated Conditions
Conditions associated with this symptom based on HPO disease-phenotype annotations.
Fibrous dysplasia of bone
Very frequent (80-99%)
Oligomeganephronic hypoplasia of kidney
Very rare (1-4%)
Congenital atresia of esophagus
Occasional (5-29%)
Polycystic kidney disease, infantile type
Very rare (1-4%)
Lethal Kniest-like syndrome
Frequent (30-79%)
Transitory neonatal diabetes mellitus
Occasional (5-29%)
Lobar holoprosencephaly
Occasional (5-29%)
Alobar holoprosencephaly
Occasional (5-29%)
Semi-lobar holoprosencephaly
Occasional (5-29%)
Gardner-Diamond syndrome
Frequent (30-79%)
RAPADILINO - radial ray malformations, patella and palate abnormalities, diarrhea and dislocated joints, limb abnormalities and little size, slender nose and normal intelligence
Frequent (30-79%)
Pseudoaminopterin syndrome
Frequent (30-79%)
Limb body wall complex
Very frequent (80-99%)
Asparagine-linked glycosylation 3 congenital disorder of glycosylation
Frequent (30-79%)
Dyssegmental dysplasia Silverman Handmaker type
Frequent (30-79%)
Spondyloepimetaphyseal dysplasia with multiple dislocations
Frequent (30-79%)
Syntelencephaly
Occasional (5-29%)
Metopic ridging, ptosis, facial dysmorphism syndrome
Occasional (5-29%)
Quick Facts
- SNOMED CT
- 445144002
- UMLS CUI
- C0239337
- Fully Specified Name
- Deformity of limb (finding)
- Associated Conditions
- 18
- Diagnostic Tests
- 0
This information is for educational purposes only. If you are experiencing symptoms, please consult a healthcare provider for proper evaluation and diagnosis.