Genetics-Focused History and Physical

The history portion of a genetics consultation ascertains the child’s medical history, prenatal risk factors, and family medical history. Because genetic disorders frequently involve multiple organ systems, the goal of history taking is to understand all medical and developmental differences of the child before assessing the potential for a genetic etiology.

In addition to a standard pediatric medical history, the pediatric genetics history should include discussion of the following factors:

*Distinctive Elements of the Pediatric Genetics History*
Preconception	Preconception genetic tests in parents (e.g., recessive carrier tests)
Conception	Natural vs. assisted reproduction
Prenatal	Ultrasound abnormalities Serum screening/quad screen Cell-free DNA testing/non-invasive prenatal testing/screening (cfDNA/NIPT/NIPS) Amniocentesis or chorionic villus sampling (CVS) Genetic tests Toxin/medication exposures Maternal or fetal complications
Birth	Gestational age Parents’ ages at the time of child's birth Complications NICU stay Newborn screen results
Development	Milestones Regression of milestones Learning difficulties
Genetics	Previous genetics consultation Prior genetic testing
Past medical history	All diagnoses to date Other specialists who see the child History specific to the genetic differential diagnosis

A complete physical exam is an essential part of a genetics consultation. Genetic disorders often have unique, observable manifestations that aid in the differential diagnosis. These findings can be subtle and located in unexpected places (e.g., a bifid uvula in Loeys-Dietz syndrome or fusion of the third and fourth fingers in triploidy).

In addition to a standard pediatric physical exam, the genetics physical exam includes assessment of the following physical characteristics:

*Distinctive Elements of the Pediatric Genetics Physical Exam*
Measurements	Head circumference
Skin	Birthmarks Pigmentation and translucency Texture and extensibility Scars Striae
Hair/nails	Thickness and texture Distribution Whorl Pigmentation Nail size and texture
Head	Shape
Face	Shape Symmetry Gestalt (i.e., does it remind you of a specific syndrome?)
Eyes	Slant Color of iris and sclera Eyelids (epicanthal folds; eversion or inversion) Spacing
Ears	Shape Size Set (high or low) and rotation Pits or tags
Nose	Shape Philtrum (smooth or not; length)
Mouth	Uvula (bifid vs. single) Jaw (e.g., micro- or retrognathia) Dentition Palate (cleft, high arch, narrow)
Neck	Length Webbing
Chest	Nipple spacing Pectus/asymmetry Gynecomastia
Cardiovascular/pulmonary	Murmur Abnormal or absent femoral pulses
Abdomen	Hepatomegaly or splenomegaly Hernia
Back	Scoliosis
Anogenital	Size of phallus/clitoris Cryptorchidism Position of urethra and anus
Musculoskeletal/extremity	Symmetry Shape and length of arms, legs, hands, feet, fingers, toes Palm and sole creases
Neurological	Tone Cognition

If a specific syndrome is suspected, dedicated checklists of physical exam findings for many disorders serve to identify diagnostic constellations (e.g., the Marfan syndrome systemic score includes specific exam maneuvers to detect arachnodactyly and marfanoid habitus).

Computer programs now exist that analyze facial photographs of a patient to add to the differential diagnosis. The utility of these programs is still being investigated and likely varies depending on the patient and syndrome, but at best they can be a worthwhile addition to the physical exam. Before using these applications, make sure they comply with protected health information rules at your hospital with adequate parent/patient consent.

Research

Landmark clinical trials and other important studies

Research

Automated Syndrome Diagnosis by Three-Dimensional Facial Imaging

Hallgrímsson B et al. Genet Med 2020.

Researchers evaluated the utility of 3D facial imaging in automated syndrome diagnosis using deep machine learning and parametric classification.

Identifying Facial Phenotypes of Genetic Disorders Using Deep Learning

Gurovich Y et al. Nat Med 2019

A proof-of-concept study suggesting that computational analysis of facial photographs can aid - or even outperform - clinicians in diagnosing patients with genetic syndromes.