Overview
Acrofacial dysostosis Rodriguez 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.
Absent fingers
Very frequent (80-99%)HP:0009380
Convex bridge of nose
Very frequent (80-99%)HP:0000426
Microtia
Very frequent (80-99%)HP:0008551
Retromicrognathia
Very frequent (80-99%)HP:0000308
Zygomatic flattening
Very frequent (80-99%)HP:0000272
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Abnormality of pelvic girdle bone morphology
Frequent (30-79%)HP:0002644
Absent/underdeveloped radius
Frequent (30-79%)HP:0006501
Aqueductal stenosis
Frequent (30-79%)HP:0002410
Arrhinencephaly
Frequent (30-79%)HP:0002139
Fused forearm bones
Frequent (30-79%)HP:0002974
Hypoplasia or unilateral/bilateral absence of ulna
Frequent (30-79%)HP:0006495
Short fibula
Frequent (30-79%)HP:0003038
Sprengel deformity
Frequent (30-79%)HP:0000912
Abnormal vertebral bodies
Occasional (5-29%)HP:0003312
Abnormality of the uterus
Occasional (5-29%)HP:0000130
Fetal foot inversion
Occasional (5-29%)HP:0001762
Intrauterine growth retardation, IUGR
Occasional (5-29%)HP:0001511
Partial syndactyly
Occasional (5-29%)HP:0006101
Renal hypoplasia/aplasia
Occasional (5-29%)HP:0008678
11 pairs of ribs
HP:0000878
Absent forearm
HP:0005632
Curvature of digit
HP:0030084
Decreased body height
HP:0004322
Decreased height of philtrum
HP:0000322
Decreased projection of mandible
HP:0000347
Deep-set nails
HP:0001814
Enophthalmos
HP:0000490
High arched palate
HP:0000218
Increased distance between eyes
HP:0000316
Related Conditions
Multiple malformation syndrome with facial-limb defects as major feature(parent)
Congenital anomaly of face bones(parent)
Longitudinal deficiency of limb(parent)
Recessive hereditary disorder (autosomal)(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
- 720430002
- UMLS CUI
- C1860119
- Fully Specified Name
- Acrofacial dysostosis Rodriguez 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.