Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Congenital ichthyosiform erythroderma
Very frequent (80-99%)HP:0007431
Decreased hair growth
Very frequent (80-99%)HP:0008070
Dry skin
Very frequent (80-99%)HP:0000958
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Erythroderma
Very frequent (80-99%)HP:0001019
Everted eyelid
Very frequent (80-99%)HP:0000656
Hearing abnormality
Very frequent (80-99%)HP:0000364
Ichthyosiform abnormality of the skin
Very frequent (80-99%)HP:0008064
Nail disease
Very frequent (80-99%)HP:0001597
respiratory infections, recurrent
Very frequent (80-99%)HP:0002205
Retruded nasal dorsum
Very frequent (80-99%)HP:0000457
Skin itching
Very frequent (80-99%)HP:0000989
Sparse or absent eyebrows
Very frequent (80-99%)HP:0100840
Tight skin
Very frequent (80-99%)HP:0100679
Eclabium
Frequent (30-79%)HP:0012472
Helix abnormal
Frequent (30-79%)HP:0011039
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Premature birth
Frequent (30-79%)HP:0001622
Protruding lower lip
Frequent (30-79%)HP:0000232
Autoagression
Occasional (5-29%)HP:0100716
Chronic ear infection
Occasional (5-29%)HP:0000389
Cognitive deficits
Occasional (5-29%)HP:0100543
Death of body tissue due to lack of blood flow or infection
Occasional (5-29%)HP:0100758
Decreased body height
Occasional (5-29%)HP:0004322
Dehydration
Occasional (5-29%)HP:0001944
Delayed motor milestones
Occasional (5-29%)HP:0001270
Dental anomalies
Occasional (5-29%)HP:0000164
Infection in blood stream
Occasional (5-29%)HP:0100806
Lens opacities
Occasional (5-29%)HP:0000518
Malignant hyperthermia
Occasional (5-29%)HP:0002047
Quick Facts
- SNOMED CT
- 268245001
- UMLS CUI
- C0239849
- Fully Specified Name
- Harlequin fetus (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.