Overview
Acrofacial dysostosis Palagonia type 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.
Decreased body height
Very frequent (80-99%)HP:0004322
Delayed skeletal development
Very frequent (80-99%)HP:0002750
Disproportionately small hands
Very frequent (80-99%)HP:0200055
Flat midface
Very frequent (80-99%)HP:0011800
Hypoplastic fourth metacarpal
Very frequent (80-99%)HP:0010044
Hypoplastic mandible
Very frequent (80-99%)HP:0000347
Laterally sparse eyebrows
Very frequent (80-99%)HP:0005338
Low anterior hairline
Very frequent (80-99%)HP:0000294
Low-set ears
Very frequent (80-99%)HP:0000369
Missing more than six teeth
Very frequent (80-99%)HP:0000677
Partial syndactyly
Very frequent (80-99%)HP:0006101
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Thin eyelashes
Very frequent (80-99%)HP:0000653
Abnormal vertebral bodies
Frequent (30-79%)HP:0003312
Bulbous nasal tip
Frequent (30-79%)HP:0000414
Increased tooth count
Frequent (30-79%)HP:0011069
Increased width of the forehead
Frequent (30-79%)HP:0000337
Short neck
Frequent (30-79%)HP:0000470
Thin eyebrow
Frequent (30-79%)HP:0045074
Thin, sparse hair
Frequent (30-79%)HP:0008070
Zygomatic flattening
Frequent (30-79%)HP:0000272
Abnormality of the eyelids
Occasional (5-29%)HP:0000492
Aplasia/Hypoplasia of the skin
Occasional (5-29%)HP:0008065
Narrow, high-arched roof of mouth
Occasional (5-29%)HP:0002705
Pili torti
Occasional (5-29%)HP:0003777
Scoliosis
Occasional (5-29%)HP:0002650
Skin degeneration
Occasional (5-29%)HP:0004334
Spina bifida occulta
Occasional (5-29%)HP:0003298
Unilateral cheiloschisis
Occasional (5-29%)HP:0100333
Related Conditions
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Congenital anomaly of face bones(parent)
Dysostosis(parent)
Hereditary disorder of musculoskeletal system(parent)
Lesion of face(parent)
Developmental hereditary disorder(parent)
Congenital dysplasia of limb(parent)
Abnormality of limb bone morphology(parent)
Quick Facts
- SNOMED CT
- 720429007
- UMLS CUI
- C1866168
- Fully Specified Name
- Acrofacial dysostosis Palagonia type (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.