Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormal nail morphology
Very frequent (80-99%)HP:0001597
Congenital ichthyosiform erythroderma
Very frequent (80-99%)HP:0007431
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
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
Thin, sparse hair
Very frequent (80-99%)HP:0008070
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
Cataract
Occasional (5-29%)HP:0000518
Chronic middle ear infection
Occasional (5-29%)HP:0000389
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
Infection in blood stream
Occasional (5-29%)HP:0100806
Intellectual impairment
Occasional (5-29%)HP:0100543
Malignant hyperthermia
Occasional (5-29%)HP:0002047
No development of motor milestones
Occasional (5-29%)HP:0001270
Polydactyly of the foot
Occasional (5-29%)HP:0001829
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.