Overview
Lowry MacLean 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.
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Abnormality of the abdominal organs
Frequent (30-79%)HP:0002012
Cleft of palate
Frequent (30-79%)HP:0000175
Craniosyostosis
Frequent (30-79%)HP:0001363
Decreased size of cranium
Frequent (30-79%)HP:0000252
Delayed primary teeth eruption
Frequent (30-79%)HP:0000680
Diaphragmatic hernia
Frequent (30-79%)HP:0000776
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Hooked nose
Frequent (30-79%)HP:0000444
Hypoplastic or absent corpus callosum
Frequent (30-79%)HP:0007370
Infantile glaucoma
Frequent (30-79%)HP:0001087
Low-set ears
Frequent (30-79%)HP:0000369
Poor growth
Frequent (30-79%)HP:0001510
Prominent globes
Frequent (30-79%)HP:0000520
Severe psychomotor retardation
Frequent (30-79%)HP:0011344
Small for gestational age infant
Frequent (30-79%)HP:0001511
Abnormality of the reproductive system
Occasional (5-29%)HP:0000078
Aortic coarctation
Occasional (5-29%)HP:0001680
Choanal atresia
Occasional (5-29%)HP:0000453
Corneal opacity
Occasional (5-29%)HP:0007957
Craniofacial dysostosis
Occasional (5-29%)HP:0004439
Cryptorchidism, bilateral
Occasional (5-29%)HP:0008689
Deformity of the supraorbital ridges
Occasional (5-29%)HP:0100538
Dermoid cyst
Occasional (5-29%)HP:0025247
Downturned corners of mouth
Occasional (5-29%)HP:0002714
Endocardial cushion defect
Occasional (5-29%)HP:0006695
Generalized hypertrichosis
Occasional (5-29%)HP:0004554
Grey sclerae
Occasional (5-29%)HP:0000592
Hemiparesis
Occasional (5-29%)HP:0001269
High forehead
Occasional (5-29%)HP:0000348
Related Conditions
Autosomal dominant hereditary disorder(parent)
Craniosynostosis syndrome(parent)
Multiple system malformation syndrome(parent)
Congenital glaucoma(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of the visual system(parent)
Developmental hereditary disorder(parent)
Congenital microcephalus(parent)
Genetic intellectual disability(parent)
Quick Facts
- SNOMED CT
- 721974000
- UMLS CUI
- C0796020
- Fully Specified Name
- Lowry MacLean 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.