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Lenz-Majewski hyperostosis syndrome

disorder
SNOMED 1393001CUI C0432269

Overview

Lenz-Majewski hyperostosis 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.

Broad collarbone
Always present (100%)HP:0000916
Broad ribs
Always present (100%)HP:0000885
Bulging forehead
Always present (100%)HP:0011220
Enamel dysplasia
Always present (100%)HP:0006297
Fused innermost hinge joints
Always present (100%)HP:0006152
Generalized elastolysis
Always present (100%)HP:0000973
Thin, sparse hair
Always present (100%)HP:0008070
Webbed fingers
Always present (100%)HP:0010554
Abnormal compact bone morphology
Very frequent (80-99%)HP:0003103
Abnormal metaphysis morphology
Very frequent (80-99%)HP:0000944
Albers-Schonberg disease
Very frequent (80-99%)HP:0011002
Aplasia/Hypoplasia of the skin
Very frequent (80-99%)HP:0008065
Aplastic clavicle
Very frequent (80-99%)HP:0006660
Brachydactyly
Very frequent (80-99%)HP:0001156
Choanal atresia
Very frequent (80-99%)HP:0000453
Defective tooth enamel
Very frequent (80-99%)HP:0000682
Delayed closure of the fontanelles
Very frequent (80-99%)HP:0000270
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Enlarged mandible
Very frequent (80-99%)HP:0000303
Hypertrophy of facial bones
Very frequent (80-99%)HP:0005465
Increased bone mineral density
Very frequent (80-99%)HP:0011001
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased ossification of cranial bones
Very frequent (80-99%)HP:0004437
Increased size of skull
Very frequent (80-99%)HP:0000256
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Joint ligamentous laxity
Very frequent (80-99%)HP:0001382
Large pinnae
Very frequent (80-99%)HP:0000400
Loose redundant skin
Very frequent (80-99%)HP:0001582
Low intelligence
Very frequent (80-99%)HP:0001249
Partial syndactyly
Very frequent (80-99%)HP:0006101

Quick Facts

SNOMED CT
1393001
UMLS CUI
C0432269
Fully Specified Name
Lenz-Majewski hyperostosis 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.