Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Decreased body height
Very frequent (80-99%)HP:0004322
Adenoids large
Frequent (30-79%)HP:0040261
Brachydactyly
Frequent (30-79%)HP:0001156
Bronchial asthma
Frequent (30-79%)HP:0002099
Decreased volume of upper lip
Frequent (30-79%)HP:0000219
Delayed skeletal development
Frequent (30-79%)HP:0002750
Hearing loss, conductive
Frequent (30-79%)HP:0000405
Hypoplastic hands
Frequent (30-79%)HP:0004279
Increased amniotic fluid index
Frequent (30-79%)HP:0001561
Increased length of philtrum
Frequent (30-79%)HP:0000343
increased pulmonary artery pressure
Frequent (30-79%)HP:0004890
Intrauterine growth retardation, IUGR
Frequent (30-79%)HP:0001511
Joint contracture
Frequent (30-79%)HP:0034392
Limitation of joint mobility
Frequent (30-79%)HP:0001376
Nasal hypoplasia
Frequent (30-79%)HP:0003196
Nostrils anteverted
Frequent (30-79%)HP:0000463
Pachydermia
Frequent (30-79%)HP:0001072
Phalangeal cone-shaped epiphyses
Frequent (30-79%)HP:0034281
Pulmonary obstruction
Frequent (30-79%)HP:0006536
Recurrent ear infections
Frequent (30-79%)HP:0410018
Round facies
Frequent (30-79%)HP:0000311
Short foetal thigh bone length
Frequent (30-79%)HP:0011428
shortened long tubular bones
Frequent (30-79%)HP:0003026
Small feet
Frequent (30-79%)HP:0001773
Valvular pulmonary stenosis
Frequent (30-79%)HP:0034350
Abnormal curving of the cornea or lens of the eye
Occasional (5-29%)HP:0000483
Abnormal formation of the hip
Occasional (5-29%)HP:0001385
Aortic stenosis
Occasional (5-29%)HP:0001650
Carpal tunnel syndrome
Occasional (5-29%)HP:0012185
Endocardial cushion defect
Occasional (5-29%)HP:0006695
Related Conditions
Quick Facts
- SNOMED CT
- 28557005
- UMLS CUI
- C3489726
- Fully Specified Name
- Geleophysic dysplasia (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.