Overview
Lethal Kniest-like 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.
Dwarfism, short-limbed
Always present (100%)HP:0008873
Thoracic hypoplasia
Always present (100%)HP:0005257
Anisospondyly
Frequent (30-79%)HP:0002879
Bowed lower limbs
Frequent (30-79%)HP:0002979
Cataract
Frequent (30-79%)HP:0000518
Dysmelia
Frequent (30-79%)HP:0040064
Flat facial shape
Frequent (30-79%)HP:0012368
Foot, talipes equinovarus
Frequent (30-79%)HP:0001762
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Low chest circumference
Frequent (30-79%)HP:0000774
Micromelia
Frequent (30-79%)HP:0002983
Posterior encephalocele
Frequent (30-79%)HP:0002085
Short limbs
Frequent (30-79%)HP:0009826
Short neck
Frequent (30-79%)HP:0000470
Short stature, severe
Frequent (30-79%)HP:0003510
shortened long tubular bones
Frequent (30-79%)HP:0003026
Skull defect
Frequent (30-79%)HP:0001362
2 vessel cord
Occasional (5-29%)HP:0001195
Bifid skull
Occasional (5-29%)HP:0002084
Cardiac anomaly
Occasional (5-29%)HP:0001627
Cleft of palate
Occasional (5-29%)HP:0000175
Clubbing of fingers
Occasional (5-29%)HP:0100759
Congenital cataracts, bilateral
Occasional (5-29%)HP:0000519
Cryptorchidism
Occasional (5-29%)HP:0000028
Decreased projection of lower jaw
Occasional (5-29%)HP:0000347
Decreased size of cranium
Occasional (5-29%)HP:0000252
Flexion contractures
Occasional (5-29%)HP:0001371
Genitourinary disease
Occasional (5-29%)HP:0000119
Hirsutism
Occasional (5-29%)HP:0001007
Hydrops fetalis
Occasional (5-29%)HP:0001789
Quick Facts
- SNOMED CT
- 93132001
- UMLS CUI
- C1857100
- Fully Specified Name
- Lethal Kniest-like 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.