Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Brachydactyly
Always present (100%)HP:0001156
Cryptorchidism, bilateral
Always present (100%)HP:0008689
Decreased projection of lower jaw
Always present (100%)HP:0000347
Decreased serum testosterone level
Always present (100%)HP:0040171
Elevated circulating follicle stimulating hormone level
Always present (100%)HP:0008232
Elevated circulating luteinizing hormone level
Always present (100%)HP:0011969
High arched palate
Always present (100%)HP:0000218
Small pointed chin
Always present (100%)HP:0000307
Testicular degeneration
Always present (100%)HP:0000029
Wide philtrum
Always present (100%)HP:0000289
Broad foot
Very frequent (80-99%)HP:0001769
Broad palm
Very frequent (80-99%)HP:0001169
Decreased body height
Very frequent (80-99%)HP:0004322
Disproportionately small hands
Very frequent (80-99%)HP:0200055
Eclabium of lower lip
Very frequent (80-99%)HP:0000232
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Shawl scrotum
Very frequent (80-99%)HP:0000049
Short palm
Very frequent (80-99%)HP:0004279
Umbilical hernia
Very frequent (80-99%)HP:0001537
Bilateral fifth digit clinodactyly
Frequent (30-79%)HP:0004209
Camptodactyly
Frequent (30-79%)HP:0012385
Cryptorchidism
Frequent (30-79%)HP:0000028
Curved linear dimple below the lower lip
Frequent (30-79%)HP:0002055
Decreased size of cranium
Frequent (30-79%)HP:0000252
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Dysplastic ears
Frequent (30-79%)HP:0000377
Eyelid ptosis
Frequent (30-79%)HP:0000508
Frontal protuberance
Frequent (30-79%)HP:0002007
Quick Facts
- SNOMED CT
- 14921002
- UMLS CUI
- C0175701
- Fully Specified Name
- Aarskog 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.