Overview
DK phocomelia syndrome 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.
Aplasia/hypoplasia involving bones of the upper limbs
Very frequent (80-99%)HP:0006496
Posterior encephalocele
Very frequent (80-99%)HP:0002085
Thrombocytopenia
Very frequent (80-99%)HP:0001873
Upper limb phocomelia
Very frequent (80-99%)HP:0009813
Absent/underdeveloped radius
Frequent (30-79%)HP:0006501
Hypoplastic or absent corpus callosum
Frequent (30-79%)HP:0007370
Psychomotor development deficiency
Frequent (30-79%)HP:0001263
Specific learning disability
Frequent (30-79%)HP:0001328
Speech difficulties
Frequent (30-79%)HP:0000750
Abnormality of position of teeth
Occasional (5-29%)HP:0000692
Abnormality of the urinary system
Occasional (5-29%)HP:0000079
Ambiguous external genitalia
Occasional (5-29%)HP:0000062
Cardiac anomaly
Occasional (5-29%)HP:0001627
Choanal atresia
Occasional (5-29%)HP:0000453
Cobb angle greater than ten degrees
Occasional (5-29%)HP:0002650
Cryptorchidism
Occasional (5-29%)HP:0000028
Epilepsy
Occasional (5-29%)HP:0001250
Fluid-filled sac located in membrane surrounding brain or spinal cord
Occasional (5-29%)HP:0100702
Hunched back
Occasional (5-29%)HP:0002808
Hydrocele testis
Occasional (5-29%)HP:0000034
Hypospadias
Occasional (5-29%)HP:0000047
Isolated hypogonadotropic hypogonadism
Occasional (5-29%)HP:0000044
Short penis
Occasional (5-29%)HP:0000054
Bifid skull
HP:0002084
Genitourinary disease
HP:0000119
Phocomelia
HP:0009829
Related Conditions
Multiple malformation syndrome with limb defect as major feature(parent)
Encephalocele(parent)
Recessive hereditary disorder (autosomal)(parent)
Genitourinary congenital anomalies(parent)
Hereditary disorder of musculoskeletal system(parent)
Hereditary thrombocytopenic disorder(parent)
Congenital thrombocytopenia(parent)
Hereditary disorder of nervous system(parent)
Developmental hereditary disorder(parent)
Quick Facts
- SNOMED CT
- 719021005
- UMLS CUI
- C1857226
- Fully Specified Name
- DK phocomelia syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 26
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.