Clinical Signs and Symptoms
ORPHA:2911 Poland syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Aplasia of the pectoralis major muscle HP:0009751
- Aplasia/Hypoplasia of the breasts HP:0010311
- Aplasia/Hypoplasia of the nipples HP:0006709
- Asymmetry of the thorax HP:0001555
- Lack of subcutaneous fatty tissue HP:0007519
Very frequent
- Abnormality of the hand HP:0001155
- Finger symphalangism HP:0009700
- Renal hypoplasia HP:0000089
- Small hand HP:0200055
- Unilateral brachydactyly HP:0006008
Frequent
- Abnormal dermatoglyphics HP:0007477
- Abnormality of the humerus HP:0003063
- Abnormality of the liver HP:0001392
- Abnormality of the lower limb HP:0002814
- Abnormality of the outer ear HP:0000356
- Abnormality of the ribs HP:0000772
- Abnormality of the sternum HP:0000766
- Abnormality of the ulna HP:0002997
- Absent hand HP:0004050
- Acute leukemia HP:0002488
- Aplasia/Hypoplasia of the radius HP:0006501
- Aplasia/Hypoplasia of the sternum HP:0006714
- Aplasia/Hypoplasia of the thumb HP:0009601
- Atrial septal defect HP:0001631
- Brachydactyly HP:0001156
- Cone-shaped epiphysis HP:0010579
- Congenital diaphragmatic hernia HP:0000776
- Cryptorchidism HP:0000028
- Dextrocardia HP:0001651
- Diabetes mellitus HP:0000819
- Duplicated collecting system HP:0000081
- Encephalocele HP:0002084
- Finger syndactyly HP:0006101
- Hand polydactyly HP:0001161
- Hemivertebrae HP:0002937
- Hypospadias HP:0000047
- Kyphosis HP:0002808
- Low posterior hairline HP:0002162
- Microcephaly HP:0000252
- Missing ribs HP:0000921
- Myopia HP:0000545
- Neoplasm of the breast HP:0100013
- Pectus carinatum HP:0000768
- Reduced bone mineral density HP:0004349
- Renal hypoplasia/aplasia HP:0008678
- Retinal hamartoma HP:0009594
- Scoliosis HP:0002650
- Short neck HP:0000470
- Short ribs HP:0000773
- Spina bifida occulta HP:0003298
- Split hand HP:0001171
- Sprengel anomaly HP:0000912
- Ureterocele HP:0000070
- Vertebral segmentation defect HP:0003422
- Vesicoureteral reflux HP:0000076
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.