Overview
Acromelic frontonasal dysplasia 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.
Abnormal toenail morphology
Very frequent (80-99%)HP:0008388
Absence of corpus callosum
Very frequent (80-99%)HP:0001274
Bifid nasal bridge
Very frequent (80-99%)HP:0011803
Bifid skull
Very frequent (80-99%)HP:0002084
Broad, upturned nose
Very frequent (80-99%)HP:0000455
Central cleft palate
Very frequent (80-99%)HP:0009099
Cognitive delay
Very frequent (80-99%)HP:0001263
Fetal foot inversion
Very frequent (80-99%)HP:0001762
Glabellar abnormality
Very frequent (80-99%)HP:0002056
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased intercanthal distance
Very frequent (80-99%)HP:0000506
Large fontanelle
Very frequent (80-99%)HP:0000239
Meningocele
Very frequent (80-99%)HP:0002435
Midline central nervous system lipomas
Very frequent (80-99%)HP:0006866
Notched tip of nose
Very frequent (80-99%)HP:0000456
Polydactyly affecting the hallux
Very frequent (80-99%)HP:0001841
Poor school performance
Very frequent (80-99%)HP:0001249
Short and broad skull
Very frequent (80-99%)HP:0000248
Thickening of the alae nasi
Very frequent (80-99%)HP:0009928
Choroid plexus cyst
Frequent (30-79%)HP:0002190
Dilated cerebral ventricle
Frequent (30-79%)HP:0002119
Hypoplasia of the olfactory bulb
Frequent (30-79%)HP:0040326
Midline cleft lip
Frequent (30-79%)HP:0000161
Anterior pituitary hypoplasia
Occasional (5-29%)HP:0010627
Aplasia/Hypoplasia of the tibia
Occasional (5-29%)HP:0005772
Cryptorchidism
Occasional (5-29%)HP:0000028
Eye drop
Occasional (5-29%)HP:0000508
Hyperplasia of hypophysial fossa
Occasional (5-29%)HP:0002690
Hypopituitarism
Occasional (5-29%)HP:0040075
Large mouth
Occasional (5-29%)HP:0000154
Quick Facts
- SNOMED CT
- 715427008
- UMLS CUI
- C0796182
- Fully Specified Name
- Acromelic frontonasal dysplasia (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.