Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal cervical curvature
HP:0005905
Akinesia
HP:0002304
Amyoplasia
HP:0003634
Cleft of palate
HP:0000175
Cystic hygroma of the neck
HP:0000476
Decreased projection of mandible
HP:0000347
Early severe foetal akinesia sequence
HP:0001989
Flexion contractures
HP:0001371
Funny looking face
HP:0001999
Hydramnios
HP:0001561
Increased distance between eyes
HP:0000316
Increased susceptibility to fractures
HP:0002659
Intrauterine growth retardation, IUGR
HP:0001511
Joint dislocation
HP:0001373
Low-set ears
HP:0000369
Malignant hyperthermia
HP:0002047
Multiple pterygia
HP:0001040
Palpebronasal fold
HP:0000286
Poorly developed lungs
HP:0002089
Retruded nasal dorsum
HP:0000457
Short finger
HP:0009381
Slender ribs
HP:0000883
Underdeveloped heart
HP:0001961
Vertebral body fusion
HP:0002948
Water retention
HP:0000969
Related Conditions
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Congenital anomaly of skeletal muscle(parent)
Multiple pterygium syndrome(parent)
Lesion of joint(parent)
Congenital anomaly of joint(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital deformity of musculoskeletal system(parent)
Quick Facts
- SNOMED CT
- 60192008
- UMLS CUI
- C1854678
- Fully Specified Name
- Lethal multiple pterygium syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 25
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.