Overview
Distal duplication 18q 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.
Abnormal distribution of hair
Very frequent (80-99%)HP:0010720
Cryptorchidism
Very frequent (80-99%)HP:0000028
Decreased projection of mandible
Very frequent (80-99%)HP:0000347
Intellectual impairment
Very frequent (80-99%)HP:0100543
Inverted triangular face
Very frequent (80-99%)HP:0000325
Misshapened teeth
Very frequent (80-99%)HP:0006482
Narrow skull shape
Very frequent (80-99%)HP:0000268
Nasal hypoplasia
Very frequent (80-99%)HP:0003196
Nostrils anteverted
Very frequent (80-99%)HP:0000463
Posteriorly angulated ears
Very frequent (80-99%)HP:0000358
Progressive intervertebral space narrowing
Very frequent (80-99%)HP:0004622
Prominent nasal root
Very frequent (80-99%)HP:0000426
Psychomotor development deficiency
Very frequent (80-99%)HP:0001263
Rotting teeth
Very frequent (80-99%)HP:0000670
Round, full face
Very frequent (80-99%)HP:0000311
Short neck
Very frequent (80-99%)HP:0000470
Thickened skin folds of neck
Very frequent (80-99%)HP:0000474
Abnormal dermatoglyphics
Frequent (30-79%)HP:0007477
Abnormality of cardiovascular system morphology
Frequent (30-79%)HP:0030680
Arachnodactyly
Frequent (30-79%)HP:0001166
Bilateral single transverse palmar creases
Frequent (30-79%)HP:0007598
High arched palate
Frequent (30-79%)HP:0000218
Hypoplasia of penis
Frequent (30-79%)HP:0008736
Proximal interphalangeal finger joint contractures
Frequent (30-79%)HP:0100490
Abnormal female external genitalia
Occasional (5-29%)HP:0000055
Choanal atresia
Occasional (5-29%)HP:0000453
Disproportionately large hands
Occasional (5-29%)HP:0001176
Finger pointing in a different direction than usual
Occasional (5-29%)HP:0004097
Iris coloboma
Occasional (5-29%)HP:0000612
Pectus excavatum
Occasional (5-29%)HP:0000767
Related Conditions
Quick Facts
- SNOMED CT
- 782676009
- UMLS CUI
- C5190516
- Fully Specified Name
- Distal trisomy 18q (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.