Overview
Osteodysplastic primordial dwarfism, type 1 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 size of cranium
Always present (100%)HP:0000252
Absence of corpus callosum
Frequent (30-79%)HP:0001274
Cryptorchidism
Frequent (30-79%)HP:0000028
More grooves in brain
Frequent (30-79%)HP:0002126
Small for gestational age infant
Frequent (30-79%)HP:0001511
Abnormal cortical gyration
Occasional (5-29%)HP:0002536
Atria septal defect
Occasional (5-29%)HP:0001631
Bifid first metacarpal
Occasional (5-29%)HP:0009616
Bowed long bones
Occasional (5-29%)HP:0006487
Brachydactyly
Occasional (5-29%)HP:0001156
Cerebellar vermis hypoplasia
Occasional (5-29%)HP:0001320
Cerebral pachygyria
Occasional (5-29%)HP:0001302
Colpocephaly
Occasional (5-29%)HP:0030048
Decreased hair growth
Occasional (5-29%)HP:0008070
Decreased height of philtrum
Occasional (5-29%)HP:0000322
Delayed maturation of end part of long bone
Occasional (5-29%)HP:0002663
Dilatation of lateral cerebral ventricles
Occasional (5-29%)HP:0006956
Dry skin
Occasional (5-29%)HP:0000958
Fainting
Occasional (5-29%)HP:0007185
Feeding difficulties
Occasional (5-29%)HP:0011968
Feet or buttocks of fetus positioned near opening of uterus
Occasional (5-29%)HP:0001623
Fine hair
Occasional (5-29%)HP:0002213
Fluid-filled sac located in membrane surrounding brain or spinal cord
Occasional (5-29%)HP:0100702
Gastroesophageal reflux disease
Occasional (5-29%)HP:0002020
Gray matter heterotopias
Occasional (5-29%)HP:0002282
High blood bilirubin levels
Occasional (5-29%)HP:0002904
High blood pressure
Occasional (5-29%)HP:0000822
Hypoplasia of corpus callosum
Occasional (5-29%)HP:0002079
Hypoplastic mandible condyle
Occasional (5-29%)HP:0000347
Interhemispheric cyst
Occasional (5-29%)HP:0032327
Related Conditions
Quick Facts
- SNOMED CT
- 254102008
- UMLS CUI
- C1859452
- Fully Specified Name
- Osteodysplastic primordial dwarfism, type 1 (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.