Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Growth failure
Always present (100%)HP:0001510
Pili torti
Always present (100%)HP:0003777
Reduced serum copper
Always present (100%)HP:0011967
Abnormal deposits of calcium in the brain
Very frequent (80-99%)HP:0002514
Abnormality of the skull bones
Very frequent (80-99%)HP:0000929
Anomaly of the face
Very frequent (80-99%)HP:0000271
Delayed closure of the fontanelles
Very frequent (80-99%)HP:0000270
Formation of new noncancerous bone on top of existing bone
Very frequent (80-99%)HP:0100777
Hypoceruloplasminemia
Very frequent (80-99%)HP:0010837
Joint instability
Very frequent (80-99%)HP:0001382
Large fontanelle
Very frequent (80-99%)HP:0000239
Poor school performance
Very frequent (80-99%)HP:0001249
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Skin hyperelasticity
Very frequent (80-99%)HP:0000974
Specific learning disability
Very frequent (80-99%)HP:0001328
Abnormality of esophagus physiology
Frequent (30-79%)HP:0025270
Abnormality of the sense of smell
Frequent (30-79%)HP:0004408
Abnormality of the wrist
Frequent (30-79%)HP:0003019
Aneurysmal disease
Frequent (30-79%)HP:0002617
Atypical scarring
Frequent (30-79%)HP:0000987
Brachydactyly
Frequent (30-79%)HP:0001156
Bruising susceptibility
Frequent (30-79%)HP:0000978
Chronic diarrhoea
Frequent (30-79%)HP:0002028
Deglutition disorder
Frequent (30-79%)HP:0002015
Delayed gastric emptying
Frequent (30-79%)HP:0002578
Esophagitis
Frequent (30-79%)HP:0100633
Flattened vertebral bodies
Frequent (30-79%)HP:0000926
Fusion of joints
Frequent (30-79%)HP:0100240
Gastro-esophageal reflux
Frequent (30-79%)HP:0002020
Hepatitis
Frequent (30-79%)HP:0012115
Related Conditions
Inherited cutis laxa(parent)
Disorder of copper metabolism(parent)
Musculoskeletal and connective tissue disorder(parent)
Hereditary disorder of musculoskeletal system(parent)
Congenital anomaly of skeletal bone(parent)
Metabolic bone disease(parent)
Skeletal dysplasia(parent)
Congenital anomaly of skin(parent)
X-linked recessive hereditary disease(parent)
Quick Facts
- SNOMED CT
- 59399004
- UMLS CUI
- C0268353
- Fully Specified Name
- Cutis laxa, x-linked (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.