Phenotypes associated with the disease Poland syndrome (ORPHA:2911):
- Asymmetry of the thorax (HP:0001555): Lack of symmetry between the left and right halves of the thorax. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2911)
- Aplasia/Hypoplasia of the nipples (HP:0006709). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2911)
- Absence of subcutaneous fat (HP:0007485): Lack of subcutaneous adipose tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2911)
- Aplasia of the pectoralis major muscle (HP:0009751): Absence of the pectoralis major muscle. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2911)
- Aplasia/Hypoplasia of the breasts (HP:0010311): Absence or underdevelopment of the breasts. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2911)
- Renal hypoplasia (HP:0000089): Hypoplasia of the kidney. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2911)
- Abnormality of the hand (HP:0001155): An abnormality affecting one or both hands. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2911)
- Absence of pectoralis minor muscle (HP:0005255): Aplasia (congenital absence) of the pectoralis minor. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2911)
- Unilateral brachydactyly (HP:0006008). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2911)
- Finger symphalangism (HP:0009700): An abnormal union between bones or parts of bones of the fingers. The synonymous term "symphalangism of the hand" may be translated as fusions of bones of varying digree, that involve at least one phalangeal bone of the hand. If bony fusions are referred to as "Symphalangism" the fusion occurs in a proximo-distal axis. Fusions of bones of the fingers in a radio-ulnar axis are referred to as "bony" Syndactyly. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2911)
- Small hand (HP:0200055): Disproportionately small hand. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2911)
- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Hypospadias (HP:0000047): Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Ureterocele (HP:0000070): A ureterocele is a congenital saccular dilatation of the distal segment of the ureter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Vesicoureteral reflux (HP:0000076): Abnormal (retrograde) movement of urine from the bladder into ureters or kidneys related to inadequacy of the valvular mechanism at the ureterovesicular junction or other causes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Duplicated collecting system (HP:0000081): A duplication of the collecting system of the kidney, defined as a kidney with two (instead of, normally, one) pyelocaliceal systems. The pyelocaliceal system is comprised of the renal pelvis and calices. The duplicated renal collecting system can be associated with a single ureter or with double ureters. In the latter case, the two ureters empty separately into the bladder or fuse to form a single ureteral orifice. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Abnormality of the outer ear (HP:0000356): An abnormality of the external ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Short neck (HP:0000470): Diminished length of the neck. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Abnormal sternum morphology (HP:0000766): An anomaly of the sternum, also known as the breastbone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Pectus carinatum (HP:0000768): A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Abnormal rib morphology (HP:0000772): An anomaly of the rib. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Congenital diaphragmatic hernia (HP:0000776): The presence of a hernia of the diaphragm present at birth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Sprengel anomaly (HP:0000912): A congenital skeletal deformity characterized by the elevation of one scapula (thus, one scapula is located superior to the other). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Missing ribs (HP:0000921): A developmental anomaly with absence of one or more ribs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Hand polydactyly (HP:0001161): A kind of polydactyly characterized by the presence of a supernumerary finger or fingers. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Split hand (HP:0001171): A condition in which middle parts of the hand (fingers and metacarpals) are missing giving a cleft appearance. The severity is very variable ranging from slightly hypoplastic middle fingers over absent middle fingers as far as oligo- or monodactyl hands. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Abnormality of the liver (HP:0001392): An abnormality of the liver. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Atrial septal defect (HP:0001631): Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Dextrocardia (HP:0001651): The heart is located in the right hand sided hemithorax. That is, there is a left-right reversal (or "mirror reflection") of the anatomical location of the heart in which the heart is locate on the right side instead of the left. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Encephalocele (HP:0002084): A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Low posterior hairline (HP:0002162): Hair on the neck extends more inferiorly than usual. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Acute leukemia (HP:0002488): A clonal (malignant) hematopoietic disorder with an acute onset, affecting the bone marrow and the peripheral blood. The malignant cells show minimal differentiation and are called blasts, either myeloid blasts (myeloblasts) or lymphoid blasts (lymphoblasts). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Kyphosis (HP:0002808): Exaggerated anterior convexity of the thoracic vertebral column. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Abnormality of the lower limb (HP:0002814): An abnormality of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Hemivertebrae (HP:0002937): Absence of one half of the vertebral body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Radioulnar synostosis (HP:0002974): An abnormal osseous union (fusion) between the radius and the ulna. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Spina bifida occulta (HP:0003298): The closed form of spina bifida with incomplete closure of a vertebral body with intact overlying skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Vertebral segmentation defect (HP:0003422): An abnormality related to a defect of vertebral separation during development. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Absent hand (HP:0004050): The total absence of the hand, with no bony elements distal to the radius or ulna. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Reduced bone mineral density (HP:0004349): A reduction of bone mineral density, that is, of the amount of matter per cubic centimeter of bones. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Finger syndactyly (HP:0006101): Webbing or fusion of the fingers, involving soft parts only or including bone structure. Bony fusions are referred to as "bony" Syndactyly if the fusion occurs in a radio-ulnar axis. Fusions of bones of the fingers in a proximo-distal axis are referred to as "Symphalangism". Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Aplasia/Hypoplasia of the radius (HP:0006501): A small/hypoplastic or absent/aplastic radius. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Aplasia/Hypoplasia of the sternum (HP:0006714). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Abnormal dermatoglyphics (HP:0007477): An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Renal hypoplasia/aplasia (HP:0008678): Absence or underdevelopment of the kidney. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Retinal hamartoma (HP:0009594): A hamartoma (a benign, focal malformation consisting of a disorganized mixture of cells and tissues) of the retina. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Aplasia/Hypoplasia of the thumb (HP:0009601): Hypoplastic/small or absent thumb. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Cone-shaped epiphysis (HP:0010579): Cone-shaped epiphyses (also known as coned epiphyses) are epiphyses that invaginate into cupped metaphyses. That is, the epiphysis has a cone-shaped distal extension resulting from increased growth of the central portion of the epiphysis relative to its periphery. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Abnormal morphology of ulna (HP:0040071): Any structural anomaly of the ulna, a bone of the forearm the extends from the elbow to the little finger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Neoplasm of the breast (HP:0100013): A tumor (abnormal growth of tissue) of the breast. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)
- Abnormal humerus morphology (HP:0031095): Any structural anomaly of the structure of the humerus (i.e., upper arm bone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2911)