Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Delay in head control
Always present (100%)HP:0002421
Extensor plantar responses
Always present (100%)HP:0003487
Fractured hair
Always present (100%)HP:0002299
Hair loss
Always present (100%)HP:0001596
Hypoceruloplasminemia
Always present (100%)HP:0010837
Hypopigmentation of the skin
Always present (100%)HP:0001010
Hypsarrhythmia by EEG
Always present (100%)HP:0002521
West syndrome
Always present (100%)HP:0011097
Abnormal palate morphology
Very frequent (80-99%)HP:0000174
Absent/small abdominal wall muscles
Very frequent (80-99%)HP:0010318
Afro-textured hair
Very frequent (80-99%)HP:0002224
Aneurysmal disease
Very frequent (80-99%)HP:0002617
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Dry skin
Very frequent (80-99%)HP:0000958
Epilepsy
Very frequent (80-99%)HP:0001250
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Hernia
Very frequent (80-99%)HP:0100790
Hypopigmentation of hair
Very frequent (80-99%)HP:0005599
Hypotrichosis
Very frequent (80-99%)HP:0008070
Inguinal hernia
Very frequent (80-99%)HP:0000023
Intracranial haemorrhage
Very frequent (80-99%)HP:0002170
Involuntary muscle stiffness, contraction, or spasm
Very frequent (80-99%)HP:0001257
Loose-jointedness
Very frequent (80-99%)HP:0001382
Loss of acquired milestones
Very frequent (80-99%)HP:0002376
Pectus excavatum
Very frequent (80-99%)HP:0000767
Peripheral hypotonia
Very frequent (80-99%)HP:0001252
Skin hyperelasticity
Very frequent (80-99%)HP:0000974
Spasticity and rigidity of muscles
Very frequent (80-99%)HP:0001276
Tiredness
Very frequent (80-99%)HP:0012378
Umbilical hernia
Very frequent (80-99%)HP:0001537
Related Conditions
Dysplasia with decreased bone density(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary disorder of nervous system(parent)
Hereditary disorder of the integument(parent)
Collagen and elastic tissue disorders affecting skin(parent)
System disorder of the nervous system(parent)
Metabolic bone disease(parent)
Disorder of copper metabolism(parent)
Disorder of hair(parent)
Developmental hereditary disorder(parent)
X-linked recessive hereditary disease(parent)
Degenerative disorder(parent)
Fetal and/or neonatal disorder of integument(parent)
Quick Facts
- SNOMED CT
- 59178007
- UMLS CUI
- C0022716
- Fully Specified Name
- Menkes kinky-hair 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.