Overview
Acro-cardio-facial syndrome 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.
Feeding difficulties in infancy
Very frequent (80-99%)HP:0008872
Low-set ears
Very frequent (80-99%)HP:0000369
Split hand
Very frequent (80-99%)HP:0001171
Abnormal metacarpal morphology
Frequent (30-79%)HP:0005916
Broad flat nasal bridge
Frequent (30-79%)HP:0000431
Cerebral cortex atrophy
Frequent (30-79%)HP:0002120
Cleft of upper lip
Frequent (30-79%)HP:0000204
Cryptorchidism
Frequent (30-79%)HP:0000028
Foot ectrodactyly
Frequent (30-79%)HP:0001839
High forehead
Frequent (30-79%)HP:0000348
Hypoplasia of penis
Frequent (30-79%)HP:0008736
Increased length of eyelashes
Frequent (30-79%)HP:0000527
Small for gestational age infant
Frequent (30-79%)HP:0001511
Absent anus
Occasional (5-29%)HP:0002023
Aortic coarctation
Occasional (5-29%)HP:0001680
Atria septal defect
Occasional (5-29%)HP:0001631
Epilepsy
Occasional (5-29%)HP:0001250
Hyperthyroidism
Occasional (5-29%)HP:0000836
Joint dislocation
Occasional (5-29%)HP:0001373
Lateral deviation of halluces
Occasional (5-29%)HP:0001822
Mitral valve stenosis
Occasional (5-29%)HP:0001718
Muscular hypotonia
Occasional (5-29%)HP:0001252
Partial syndactyly
Occasional (5-29%)HP:0006101
Polydactyly of the foot
Occasional (5-29%)HP:0001829
Protruding eyes
Occasional (5-29%)HP:0000520
Proximal interphalangeal finger joint contractures
Occasional (5-29%)HP:0100490
Spasticity and rigidity of muscles
Occasional (5-29%)HP:0001276
Syndactyly of feet
Occasional (5-29%)HP:0001770
Tetrology of fallot
Occasional (5-29%)HP:0001636
Truncus arteriosus
Occasional (5-29%)HP:0001660
Quick Facts
- SNOMED CT
- 890221004
- UMLS CUI
- C1838121
- Fully Specified Name
- Acrocardiofacial syndrome (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.