Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Broad big toe
Always present (100%)HP:0010055
Bulging forehead
Always present (100%)HP:0011220
High arched palate
Always present (100%)HP:0000218
Webbed fingers
Always present (100%)HP:0010554
Webbed skin of toes
Always present (100%)HP:0010621
Acrobrachycephaly
Very frequent (80-99%)HP:0004487
Anterior bulging of the globe of eye
Very frequent (80-99%)HP:0000520
Brachyturricephaly
Very frequent (80-99%)HP:0000244
Craniosynostosis of coronal suture
Very frequent (80-99%)HP:0004440
Deformity of the skull
Very frequent (80-99%)HP:0001363
Depressed nasal root/bridge
Very frequent (80-99%)HP:0005280
Frontal protuberance
Very frequent (80-99%)HP:0002007
Hearing loss, conductive
Very frequent (80-99%)HP:0000405
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Partial syndactyly
Very frequent (80-99%)HP:0006101
Small upper jaw
Very frequent (80-99%)HP:0000327
Syndactyly of feet
Very frequent (80-99%)HP:0001770
Abnormal semicircular canal morphology
Frequent (30-79%)HP:0011380
Abnormal spinal segmentation
Frequent (30-79%)HP:0003422
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Absence of the septum pellucidum
Frequent (30-79%)HP:0001331
Angle class 3 malocclusion
Frequent (30-79%)HP:0000689
Aplastic/hypoplastic thumbs
Frequent (30-79%)HP:0009601
Broad thumbs
Frequent (30-79%)HP:0011304
Cervical C5/C6 vertebrae fusion
Frequent (30-79%)HP:0004635
Chronic middle ear infection
Frequent (30-79%)HP:0000389
Coanal stenosis
Frequent (30-79%)HP:0000452
Cryptorchidism
Frequent (30-79%)HP:0000028
Cutaneous syndactyly of digits
Frequent (30-79%)HP:0012725
Decreased volume of upper lip
Frequent (30-79%)HP:0000219
Quick Facts
- SNOMED CT
- 205258009
- UMLS CUI
- C0001193
- Fully Specified Name
- Acrocephalosyndactyly type I (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.