Overview
8q22.1 microdeletion 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.
Aplasia of eyelashes
Always present (100%)HP:0000561
Broad neck
Always present (100%)HP:0000475
Decreased volume of upper lip
Always present (100%)HP:0000219
Depressed nasal root/bridge
Always present (100%)HP:0005280
Eclabium of lower lip
Always present (100%)HP:0000232
Flat philtrum
Always present (100%)HP:0000319
Frontal upsweep of hair
Always present (100%)HP:0002236
Horizontal chin skin cleft
Always present (100%)HP:0011823
Hypoplastic nipples
Always present (100%)HP:0002557
Increased distance between eyes
Always present (100%)HP:0000316
Narrow mouth
Always present (100%)HP:0000160
Nostrils anteverted
Always present (100%)HP:0000463
Overfolded helix
Always present (100%)HP:0000396
Posteriorly angulated ears
Always present (100%)HP:0000358
Postnatal microcephaly
Always present (100%)HP:0005484
Short hallux
Always present (100%)HP:0010109
Single flexion crease
Always present (100%)HP:0000954
Small earlobes
Always present (100%)HP:0000385
Small nose
Always present (100%)HP:0003196
Tapering fingers
Always present (100%)HP:0001182
Abnormal antihelix morphology
Very frequent (80-99%)HP:0009738
Abnormal distribution of hair
Very frequent (80-99%)HP:0010720
Blepharophimosis
Very frequent (80-99%)HP:0000581
Cryptorchidism
Very frequent (80-99%)HP:0000028
Dysplastic ears
Very frequent (80-99%)HP:0000377
Happy aspect
Very frequent (80-99%)HP:0100024
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Increased length of philtrum
Very frequent (80-99%)HP:0000343
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Low-set ears
Very frequent (80-99%)HP:0000369
Quick Facts
- SNOMED CT
- 719664004
- UMLS CUI
- C1842464
- Fully Specified Name
- 8q22.1 microdeletion 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.