Diagnostic Considerations

The presence of eight or more of the characteristic clinical findings (see Presentation) leads to a definite diagnosis of Down syndrome. Chromosomal analysis is always recommended and of utmost importance in doubtful cases.^{[81, 82, 83]}

In addition to the differential diagnosis, other problems to be considered include the following:

49,XXXXY chromosome and other high-order multiple X chromosome disorders
Congenital hypothyroidism
Mosaic trisomy 21 syndrome
Partial trisomy 21 (or 21q duplication)
Robertsonian trisomy 21
Zellweger syndrome or other peroxisomal disorders

Differential Diagnoses

Trisomy 18

Workup

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Media Gallery

Infant with Down syndrome. Note up-slanting palpebral fissures, bilateral epicanthal folds, flat nasal bridge, open mouth with tendency for tongue protrusion, and small ear with overfolded helix.
Child with Down syndrome. Note up-slanting palpebral fissures, bilateral epicanthal folds, small nose with flat nasal bridge, open mouth with tendency for tongue protrusion, and small ears with overfolded helix.
G-banded karyotype showing trisomy 21 (47,XY,+21).
G-banded karyotype showing trisomy 21 of isochromosome arm 21q type [46,XY,i(21)(q10)].
Hand of infant with Down syndrome. Note transverse palmar crease and clinodactyly of fifth finger.
Ear of infant with Down syndrome. Note characteristic small ear with overfolded helix.
Characteristic flat facies with hypertelorism, depressed nasal bridge, and protrusion of tongue, as well as single palmar simian crease in 2-year-old girl with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Small auricle and anomalies of folds in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Palmar simian crease in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Patient with Down syndrome with protuberant abdomen and umbilical hernia. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Wide gap between first and second toes and onychomycosis in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.
Hypodontia in patient with Down syndrome. Image courtesy of L. Dourmishev, MD, PhD, DSc.

of 12

Author

Gratias Tom Mundakel, MBBS, DCH Attending Neonatologist, Kings County Hospital; Clinical Assistant Professor, Department of Pediatrics, State University of New York Downstate Medical Center

Gratias Tom Mundakel, MBBS, DCH is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Coauthor(s)

Purushottam Lal, MD Resident Physician, Department of Pediatrics, Children's Hospital at SUNY Downstate

Purushottam Lal, MD is a member of the following medical societies: Delhi Medical Council, Indian Academy of Pediatrics

Disclosure: Nothing to disclose.

Specialty Editor Board

Lois J Starr, MD, FAAP Assistant Professor of Pediatrics, Clinical Geneticist, Munroe Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center

Lois J Starr, MD, FAAP is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics

Disclosure: Nothing to disclose.

Chief Editor

Maria Descartes, MD Professor, Department of Human Genetics and Department of Pediatrics, University of Alabama at Birmingham School of Medicine

Maria Descartes, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics, Society for Inherited Metabolic Disorders, International Skeletal Dysplasia Society, Southeastern Regional Genetics Group

Disclosure: Nothing to disclose.

Additional Contributors

Harold Chen, MD, MS, FAAP, FACMG Professor, Department of Pediatrics, Louisiana State University Medical Center

Harold Chen, MD, MS, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics, American College of Medical Genetics and Genomics, American Medical Association, American Society of Human Genetics

Disclosure: Nothing to disclose.

Michael M Henry, MD Fellow in Neonatal/Perinatal Medicine, Children’s Hospital at SUNY Downstate Medical Center

Michael M Henry, MD is a member of the following medical societies: Brooklyn Pediatric Society

Disclosure: Nothing to disclose.

Acknowledgements

James Bowman, MD Senior Scholar of Maclean Center for Clinical Medical Ethics, Professor Emeritus, Department of Pathology, University of Chicago

James Bowman, MD is a member of the following medical societies: Alpha Omega Alpha, American Society for Clinical Pathology, American Society of Human Genetics, Central Society for Clinical Research, and College of American Pathologists

Disclosure: Nothing to disclose.

David Flannery, MD, FAAP, FACMG Vice Chair of Education, Chief, Section of Medical Genetics, Professor, Department of Pediatrics, Medical College of Georgia

David Flannery, MD, FAAP, FACMG is a member of the following medical societies: American Academy of Pediatrics and American College of Medical Genetics

Disclosure: Nothing to disclose.

Mary L Windle, PharmD, Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Down Syndrome Differential Diagnoses

Diagnostic Considerations

Differential Diagnoses

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