Overview
Acro-fronto-facio-nasal dysostosis type 2 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.
Abnormality of the penis
Very frequent (80-99%)HP:0000036
Delayed closure of the fontanelles
Very frequent (80-99%)HP:0000270
Epispadias
Very frequent (80-99%)HP:0000039
Hypospadias
Very frequent (80-99%)HP:0000047
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased width of bridge of nose
Very frequent (80-99%)HP:0000431
Large, late-closing fontanelle
Very frequent (80-99%)HP:0000239
Low-set ears
Very frequent (80-99%)HP:0000369
Partial syndactyly
Very frequent (80-99%)HP:0006101
Posterior flattening of the skull
Very frequent (80-99%)HP:0005469
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Preaxial hand polydactyly
Very frequent (80-99%)HP:0001177
Retruded nasal dorsum
Very frequent (80-99%)HP:0000457
Shawl scrotum
Very frequent (80-99%)HP:0000049
Short and broad skull
Very frequent (80-99%)HP:0000248
Broad bone of big toe
Frequent (30-79%)HP:0010059
Broad thumbs
Frequent (30-79%)HP:0011304
Down-slanting palpebral fissure
Frequent (30-79%)HP:0000494
Eye drop
Frequent (30-79%)HP:0000508
Eyelid coloboma
Frequent (30-79%)HP:0000625
Glaucoma
Frequent (30-79%)HP:0000501
Increased length of philtrum
Frequent (30-79%)HP:0000343
Increased width of the forehead
Frequent (30-79%)HP:0000337
Prominent eyes
Frequent (30-79%)HP:0000520
Scrotal cleft
Frequent (30-79%)HP:0000048
Abnormal cortical gyration
Occasional (5-29%)HP:0002536
Abnormal toenail morphology
Occasional (5-29%)HP:0008388
Abnormality of neuronal migration
Occasional (5-29%)HP:0002269
Bifid skull
Occasional (5-29%)HP:0002084
Cerebral pachygyria
Occasional (5-29%)HP:0001302
Related Conditions
Genitourinary congenital anomalies(parent)
Congenital anomaly of digit(parent)
Recessive hereditary disorder (autosomal)(parent)
Lesion of face(parent)
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Hereditary disorder of musculoskeletal system(parent)
Dysostosis of bone of skull(parent)
Developmental hereditary disorder(parent)
Congenital dysplasia of limb(parent)
Quick Facts
- SNOMED CT
- 721835008
- UMLS CUI
- C1855904
- Fully Specified Name
- Acrofrontofacionasal dysostosis type 2 (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.