Overview
Geroderma osteodysplastica 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.
Hyperextensible fingers
Always present (100%)HP:0001187
Osteopenia
Always present (100%)HP:0000938
Premature skin wrinkling
Always present (100%)HP:0100678
Small upper jaw
Always present (100%)HP:0000327
Wrinkled skin of hands and feet in newborn
Always present (100%)HP:0007414
Abnormal bone ossification
Very frequent (80-99%)HP:0011849
Abnormal vertebral bodies
Very frequent (80-99%)HP:0003312
Beaking of vertebral bodies
Very frequent (80-99%)HP:0004568
Biconcave 'codfish' vertebrae
Very frequent (80-99%)HP:0004586
Loose redundant skin
Very frequent (80-99%)HP:0001582
Loose-jointedness
Very frequent (80-99%)HP:0001382
Nonprogressive mental retardation
Very frequent (80-99%)HP:0001249
Osteoporosis
Very frequent (80-99%)HP:0000939
Short stature, severe
Very frequent (80-99%)HP:0003510
Skin hyperelasticity
Very frequent (80-99%)HP:0000974
Thin skin
Very frequent (80-99%)HP:0000963
Varying degree of multiple fractures
Very frequent (80-99%)HP:0002757
Vertebral compression or collapse
Very frequent (80-99%)HP:0002953
Decreased size of cranium
Frequent (30-79%)HP:0000252
Dislocated femoral heads
Frequent (30-79%)HP:0002827
Enophthalmos
Frequent (30-79%)HP:0000490
Muscular hypotonia
Frequent (30-79%)HP:0001252
Poor growth
Frequent (30-79%)HP:0001510
Recurrent chest infections
Frequent (30-79%)HP:0002783
Scoliosis
Frequent (30-79%)HP:0002650
Speech delay
Frequent (30-79%)HP:0000750
Abnormal eye
Occasional (5-29%)HP:0000478
Abnormality of vision
Occasional (5-29%)HP:0000504
Anomaly of the epiphyses
Occasional (5-29%)HP:0005930
Cognitive delay
Occasional (5-29%)HP:0001263
Related Conditions
Dysplasia with decreased bone density(parent)
Hereditary disorder of musculoskeletal system(parent)
Recessive hereditary disorder (autosomal)(parent)
Metabolic bone disease(parent)
Premature ageing syndrome(parent)
Developmental hereditary disorder(parent)
Fetal and/or neonatal disorder of integument(parent)
Quick Facts
- SNOMED CT
- 254116003
- UMLS CUI
- C0432255
- Fully Specified Name
- Geroderma osteodysplastica (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.