Screening Questions when suspecting genetic syndrome

Pregnancy History red flags

• Age of mother > 35
• History of repeated prematurity
• Position of the fetu: breech delivery or hx congenital hip dysplasia
• Results of fetal ultrasonography
• Amniotic fluid (oligohydramnios or polyhydramnios)
• Blood screening tests
• Multiple births
• Medications and known teratogens
• Decreased fetal movement

Neonatal History

• Symmetric intrauterine growth restriction
• Large for gestational age without a reason
• Hearing loss
• Persistent hyperbilirubinemia (tyrosenemia, galactosemia)
• Poor adaptation to the environment
• Hypotonia or hypertonia
• Seizures
• Remarkable metabolic screen results

Patient Hx

• Developmental delay
• Recurrent seizures
• Hypotonia or hypertonia
• Failure to thrive

Family History

• Major congenital anomalies
• Mental retardation
• Known genetic diseases
• Metabolic disorders
• Chronic serious illnesses

• • Heart disease (conduction problems, structural problems, first-degree relative <55 years with hypercholesterolemia, stroke, angina, or myocardial infarction)
  • Diabetes (types I and II)
  • Cancer (especially breast and GI, retinoblastoma; these are genetically linked)
  • Hypertension
  • Renal disease
  • Deafness/hearing impairment
  • Blindness
  • Asthma
  • Hemoglobinopathies
  • Hypertension
  • Recurrent infections
  • Seizures/neurologic diseases
  • Sudden unexpected death
  • Suicide
  • Hypothyroidism

• Multiple miscarriages and stillbirths
• Significant learning disabilities and familial psychiatric problems
• Parents' ancestry, ethnicity
• Consanguinity

Major congenital abnormalities

• Cleft lip, cleft palate
• Congenital heart disease
• Brain anomalies, neural tube defects
• Omphalocele
• Specific skin lesions
• Generalized dysmorphism and growth restriction
• Asymmetry (facial, skeletal, limb)
• Hepatosplenomegaly
• Multiple minor congenital anomalies (see Table 5)

Minor congenital abnormalities (ubiquitous.. a diagnostic challenge) - workup if 3 or more are present.

Cranium and scalp
Triple hair whorl
Patent metopic suture
Flat occiput
Prominent occiput
Frontal bossing
Widow’s peak

Ears
Lack of helical folding (single
helix: flat without ridges or
indentations)
Ear lobe crease
Ear lobe notched
Lop ear (forward displaced
and protruding)
Cup-shaped ear
Thickened helix
Helix attached to scalp

Sinuses
Branchial
Preauricular
Ear lobe
Helical
Pilonidal

Face and neck
Synophrys
Flat bridge nose
Hypotelorism
Hypertelorism
Nostrils anteverted
Epicanthal fold
Iris freckles
Upward palpebral slant
Downward palpebral slant
Short palpebral fissures
Cleft uvula
Long philtrum
Short philtrum
Smooth philtrum
Microstomia
Macrostomia
Macroglossia
Micrognathia
Webbed neck
Redundant neck skin
Ptosis

Trunk
Extra nipples
Single umbilical artery
Umbilical hernia
Diastasis rectus
Glandular hypospadias
Shawl scrotum (redundant
skin folds over the base and
the top of the penis)
Vaginal tag

Limbs
Cubitus valgus
Tapered fingers
Overlapping fingers
Broad thumb, broad great toe
Clinodactyly
Nails hyperconvex or
hypoplastic
Increased space between
toes
Syndactyly, toes 2-3
Overlapping digits