Trisomy 21

Down syndrome or Down's syndrome, also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. It is usually associated with physical growth delays, mild to moderate intellectual disability, and characteristic facial features. [Source: Wikipedia ]

Synonyms
Down syndrome
OrphaNet reference
Down syndrome 
Is A
Trisomy syndrome
May Cause
Abnormal odontoid process
Abnormal sternum
Absent digit
Absent nose
Absent paranasal sinus
Accessory epiphyses
Achalasia
Alopecia
Anodontia or hypodontia
Anorectal anomaly
Anterior beaked vertebrae in a child
Anterior vertebral scalloping
Aortic stenosis
Atlantoaxial instability
Basal ganglion calcification
Basilar invagination
Brachydactyly
Camptodactyly
Choanal atresia
Choanal stenosis
Clinodactyly
Clinodactyly of fifth finger
Common origin of carotid arteries
Complete atrioventricular canal
Congenital atlantoaxial subluxation or instability
Congenital heart disease
Congenital hypodontia
Congenital intestinal malrotation
Congenital joint subluxation
Congenital midface hypoplasia
Congenital premature craniosynostosis
Congenital renal cystic disease
Congenital short hands and feet
Congenital skull defect
Congenital tracheal stenosis x
Congenital vertebral abnormality
Congenitally abnormal pelvis
Cryptorchidism
Decreased number of ribs
Defective cranial ossification
Defective dentition
Delayed bone age
Delayed closure of fontanelles
Delayed dentition
Delayed tooth eruption
Delta phalanx
Dense epiphyses of hands and feet
Dental defect
Depressed nasal bridge
Double bubble sign
Drumstick distal phalanges
Duodenal narrowing or obstruction
Echogenic fetal bowel
Eleven pairs of ribs
Esophageal dysfunction
Facial hypoplasia
Fetal neck mass
Fissured tongue
Flat occiput
Genital anomaly
Genu valgum
Hemangioma
Hip dislocation
Hip subluxation
Hooked clavicle
Hydrops fetalis
Hypogonadism
Hypoplastic paranasal sinus
Hypospadias
Hypotelorism
Immune disorder
Incomplete ossification of cranial sutures
Increased nuchal fold
Increased risk of neoplasm
Inner ear anomaly
Intestinal malrotation
Intracranial calcification
Irregular epiphyseal ossification centers
Irregular epiphysis
Joint laxity
Joint subluxation
Large fontanelle
Leukemia
Macroglossia
Microcephaly
Microdontia
Microorchidism
Microstomia
Microtia
Middle ear anomaly
Multiple abnormal epiphyses
Multiple calcaneal ossification centers
Multiple sclerotic foci in an infant or child
Myopia
Neuronal migration disorder
Nuchal cystic hygroma
Nuchal thickening
Odontoid aplasia
Odontoid hypoplasia
Ovarian cyst
Ovarian tumor
Oversegmentation of sternum
Preaxial polydactyly
Premature aging
Pseudoepiphyses
Retarded skeletal maturation
Rib anomaly
Ribbon-like ribs
Sclerotic epiphysis
Short foot
Short hand
Short narrow thoracic cage
Skull base hypoplasia
Slipped capital femoral epiphysis
Small acetabular angle
Small nose
Small sella turcica
Spool-shaped vertebrae
Stippled epiphyses
Syndactyly
Tall vertebrae
Taurodontism
Thin ribs
Thyroid dysfunction
Tongue abnormality
Tracheomalacia
Type B pelvis
Ventricular septal defect
Wavy ribs
Wide sutures
Wormian bones
Down syndrome
Abnormal odontoid process
Abnormal sternum
Absent digit
Absent nose
Absent paranasal sinus
Accessory epiphyses
Achalasia
Alopecia
Anodontia or hypodontia
Anorectal anomaly
Anterior beaked vertebrae in a child
Anterior vertebral scalloping
Aortic stenosis
Atlantoaxial instability
Basal ganglion calcification
Basilar invagination
Brachydactyly
Camptodactyly
Choanal atresia
Choanal stenosis
Clinodactyly
Clinodactyly of fifth finger
Common origin of carotid arteries
Complete atrioventricular canal
Congenital atlantoaxial subluxation or instability
Congenital heart disease
Congenital hypodontia
Congenital intestinal malrotation
Congenital joint subluxation
Congenital midface hypoplasia
Congenital premature craniosynostosis
Congenital renal cystic disease
Congenital short hands and feet
Congenital skull defect
Congenital tracheal stenosis x
Congenital vertebral abnormality
Congenitally abnormal pelvis
Cryptorchidism
Decreased number of ribs
Defective cranial ossification
Defective dentition
Delayed bone age
Delayed closure of fontanelles
Delayed dentition
Delayed tooth eruption
Delta phalanx
Dense epiphyses of hands and feet
Dental defect
Depressed nasal bridge
Double bubble sign
Drumstick distal phalanges
Duodenal narrowing or obstruction
Echogenic fetal bowel
Eleven pairs of ribs
Esophageal dysfunction
Facial hypoplasia
Fetal neck mass
Fissured tongue
Flat occiput
Genital anomaly
Genu valgum
Hemangioma
Hip dislocation
Hip subluxation
Hooked clavicle
Hydrops fetalis
Hypogonadism
Hypoplastic paranasal sinus
Hypospadias
Hypotelorism
Immune disorder
Incomplete ossification of cranial sutures
Increased nuchal fold
Increased risk of neoplasm
Inner ear anomaly
Intestinal malrotation
Intracranial calcification
Irregular epiphyseal ossification centers
Irregular epiphysis
Joint laxity
Joint subluxation
Large fontanelle
Leukemia
Macroglossia
Microcephaly
Microdontia
Microorchidism
Microstomia
Microtia
Middle ear anomaly
Multiple abnormal epiphyses
Multiple calcaneal ossification centers
Multiple sclerotic foci in an infant or child
Myopia
Neuronal migration disorder
Nuchal cystic hygroma
Nuchal thickening
Odontoid aplasia
Odontoid hypoplasia
Ovarian cyst
Ovarian tumor
Oversegmentation of sternum
Preaxial polydactyly
Premature aging
Pseudoepiphyses
Retarded skeletal maturation
Rib anomaly
Ribbon-like ribs
Sclerotic epiphysis
Short foot
Short hand
Short narrow thoracic cage
Skull base hypoplasia
Slipped capital femoral epiphysis
Small acetabular angle
Small nose
Small sella turcica
Spool-shaped vertebrae
Stippled epiphyses
Syndactyly
Tall vertebrae
Taurodontism
Thin ribs
Thyroid dysfunction
Tongue abnormality
Tracheomalacia
Type B pelvis
Ventricular septal defect
Wavy ribs
Wide sutures
Wormian bones