Overview
Acrofrontofacionasal dysostosis 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.
Absence of eyebrow
Very frequent (80-99%)HP:0100840
Anomaly of the epiphyses
Very frequent (80-99%)HP:0005930
Anonychia
Very frequent (80-99%)HP:0001798
Brachydactyly
Very frequent (80-99%)HP:0001156
Broad thumbs
Very frequent (80-99%)HP:0011304
Broad, upturned nose
Very frequent (80-99%)HP:0000455
Cerebral cortex atrophy
Very frequent (80-99%)HP:0002120
Cleft of palate
Very frequent (80-99%)HP:0000175
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased projection of midface
Very frequent (80-99%)HP:0011800
Dimpled tip of nose
Very frequent (80-99%)HP:0004132
Distal phalangeal hypoplasia
Very frequent (80-99%)HP:0009882
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Eye drop
Very frequent (80-99%)HP:0000508
Eyelid coloboma
Very frequent (80-99%)HP:0000625
High arched palate
Very frequent (80-99%)HP:0000218
Hypopigmented skin patches
Very frequent (80-99%)HP:0001053
Increased distance between eyes
Very frequent (80-99%)HP:0000316
Increased width of the forehead
Very frequent (80-99%)HP:0000337
Mental retardation, severe
Very frequent (80-99%)HP:0010864
Micromelia
Very frequent (80-99%)HP:0002983
Non-midline cleft of the upper lip
Very frequent (80-99%)HP:0100335
Proximal interphalangeal finger joint contractures
Very frequent (80-99%)HP:0100490
Speckled iris
Very frequent (80-99%)HP:0001088
Wide skull shape
Very frequent (80-99%)HP:0000248
Protruding lower lip
Frequent (30-79%)HP:0000232
Hypospadias
Occasional (5-29%)HP:0000047
Scrotal cleft
Occasional (5-29%)HP:0000048
Urogenital abnormalities
Occasional (5-29%)HP:0000119
Related Conditions
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Recessive hereditary disorder (autosomal)(parent)
Dysostosis of bone of skull(parent)
Hereditary disorder of musculoskeletal system(parent)
Lesion of face(parent)
Developmental hereditary disorder(parent)
Congenital dysplasia of limb(parent)
Quick Facts
- SNOMED CT
- 720408003
- UMLS CUI
- C1860118
- Fully Specified Name
- Acrofrontofacionasal dysostosis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 29
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.