Overview
Lethal tight skin contracture 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.
Acro-osteolysis of distal phalanges
Always present (100%)HP:0009839
Amnion-chorion separation
Always present (100%)HP:0025712
Ankylosis
Always present (100%)HP:0031013
Flat nasal bridge
Always present (100%)HP:0005280
Hooked nose
Always present (100%)HP:0000444
Indurated skin
Always present (100%)HP:0030053
Limb joint contracture
Always present (100%)HP:0003121
Oligohydramnios
Always present (100%)HP:0001562
Prominent superficial vasculature
Always present (100%)HP:0007394
Short clavicles
Always present (100%)HP:0000894
Thin eyelashes
Always present (100%)HP:0000653
Thin skin
Always present (100%)HP:0000963
Wider-than-typical soft spot of skull
Always present (100%)HP:0000260
Abnormal cellular phenotype
Very frequent (80-99%)HP:0025354
Absent/small collarbone
Very frequent (80-99%)HP:0006710
Aplasia/Hypoplasia of the eccrine sweat glands
Very frequent (80-99%)HP:0007592
Arthrogryposis multiplex
Very frequent (80-99%)HP:0002804
Decreased fetal movement
Very frequent (80-99%)HP:0001558
Decreased hair growth
Very frequent (80-99%)HP:0008070
Decreased mineralization of skull
Very frequent (80-99%)HP:0004331
Dermal translucency
Very frequent (80-99%)HP:0010648
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Eyelid turned in
Very frequent (80-99%)HP:0000621
Generalised hyperkeratosis
Very frequent (80-99%)HP:0005595
Hypoplasia of the nose
Very frequent (80-99%)HP:0009924
Hypoplastic mandible condyle
Very frequent (80-99%)HP:0000347
Increased anterioposterior diameter of thorax
Very frequent (80-99%)HP:0005253
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Quick Facts
- SNOMED CT
- 400128006
- UMLS CUI
- C0406585
- Fully Specified Name
- Lethal tight skin contracture 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.