Overview
Acrofacial dysostosis Catania 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.
Cerebellar vermis hypoplasia
Always present (100%)HP:0001320
Cerebral cortex atrophy
Always present (100%)HP:0002120
Decreased projection of mandible
Always present (100%)HP:0000347
Hypoplasia of corpus callosum
Always present (100%)HP:0002079
Mega cisterna magna
Always present (100%)HP:0002280
Nasal hypertrophy
Always present (100%)HP:0000448
Single flexion crease
Always present (100%)HP:0000954
Zygomatic flattening
Always present (100%)HP:0000272
Abnormal dermatoglyphics
Very frequent (80-99%)HP:0007477
Abnormal palate morphology
Very frequent (80-99%)HP:0000174
Brachydactyly
Very frequent (80-99%)HP:0001156
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Disproportionately small hands
Very frequent (80-99%)HP:0200055
Down-slanting palpebral fissure
Very frequent (80-99%)HP:0000494
Flat philtrum
Very frequent (80-99%)HP:0000319
High forehead
Very frequent (80-99%)HP:0000348
Mental retardation, mild
Very frequent (80-99%)HP:0001256
Partial syndactyly
Very frequent (80-99%)HP:0006101
Retromicrognathia
Very frequent (80-99%)HP:0000308
Short palm
Very frequent (80-99%)HP:0004279
Small malar bone
Very frequent (80-99%)HP:0010669
Small nose
Very frequent (80-99%)HP:0003196
Tooth abnormalities
Very frequent (80-99%)HP:0000164
Abnormal distribution of hair
Frequent (30-79%)HP:0010720
Bilateral single transverse palmar creases
Frequent (30-79%)HP:0007598
Cryptorchidism
Frequent (30-79%)HP:0000028
Feeding difficulties in infancy
Frequent (30-79%)HP:0008872
Posteriorly angulated ears
Frequent (30-79%)HP:0000358
Retarded ossification
Frequent (30-79%)HP:0002750
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
- 720419000
- UMLS CUI
- C2931762
- Fully Specified Name
- Acrofacial dysostosis Catania type (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.