Dysmorphia

Dysmorphology
Dysmorphology: the evaluation, diagnosis and study of birth defects or birth defect syndromes

Etiology of Dysmorphia: teratogenic, genetic, multifactorial, etc.

Major Birth Defect: a defect present at birth which has cosmetic, medical, or surgical significance

Types Minor Anomalies
 * Malformation = primary defect arising from poor formation of tissue
 * Disruption = secondary defect caused by breakdown of normal tissue
 * Deformation = secondary defect caused by external forces on normal tissue
 * Dysplasia = primary defect due to abnormal cellular organization within a specific tissue
 * Syndrome = pattern of abnormalities which occur together from a single cause
 * Sequence = series of defects secondary to a single localized abnormality in early development
 * Complex = abnormalities of different structures which arose in the same embryonic region
 * Association = nonrandom occurrence in two or more individuals of multiple, idiopathic anomalies of blastogenesis
 * <4% of population
 * no medical, cosmetic, nor surgical significance

Frequency of Birth Defects Birth Defect Associations
 * Associated Risk of Major Malformation
 * 1 minor anomaly = 3.7% risk of MM
 * 2 minor anomalies = 6.7% risk of MM
 * 3 minor anomalies = 19.6% risk of MM
 * ~2% of newborns
 * ~4% of toddlers
 * 6-8% of school-age
 * Low Birth Weight
 * <1500 gm = 16.2% risk of BD
 * 1500-1900gm = 13.2% risk of BD
 * >4000gm = 2.8% risk of BD

Dysmorphology Evaluation
 * Twinning
 * Males > Females
 * Consanguinity
 * Medical History
 * Pregnancy: exposures, obstetric issues, prenatal testing
 * Delivery/Newborn Period: type of delivery, birth stats, complications, feeding
 * Infancy/Childhood: growth and development, hospitalizations, surgeries, illness, lab data
 * Family History
 * Siblings, parents, consanguinity, ethnicity; recurrent miscarriages, stillborns, neonatal deaths; birth defects
 * Negative Family History does not negate risk of genetic cause
 * Presence of similarly affected males relatives of a male child suggests X-Linked Inheritance
 * Similar Features in parents/child = benign familial resemblance or undiagnosed parent
 * Physical Examination
 * Growth = use appropriate growth curves for gender, ethnicity, condition
 * Note Major & Minor anomalies; normal variants
 * Measurements = abnormal is >2 SD above or below the mean
 * Head: size, shape, symmetry, face size, shape, hairlines
 * Eyes: slant, size, placement, epicanthal folds, eye size, inner/outer canthal, interpupillary distance
 * Nose: length, bridge, nares, columella
 * Ears: shape, size, location, earlobe creases, preauricular pits / tags
 * Mouth: vermillion, shape, dentition, palate, uvula, lip pits
 * Philtrum: flat vs grooved, size
 * Chin: prognathia, micrognathia, retrognathia
 * Neck: length, webbing, lesions, thyromegaly, adenopathy, branchial cleft
 * Chest: symmetry, shape, size, heart
 * Skin/Hair: skin pigmentation, skin lesions, hair distribution, hair pigmentation
 * Extremities: symmetry, size, fingers, palms, toes, soles, flat/arched
 * Assessment
 * Compare to other relatives
 * Certain anomalies have better predictive value
 * Concentrate on most unusual feature
 * Laboratory Evaluation
 * Blood, Skin, Buccal Cells
 * Karyotype
 * trisomies
 * mosaicism
 * Microarray (CGH)
 * particular pattern of anomalies
 * ambiguous genitalia
 * developmental delay +/- major/minor anomalies
 * child with 2 single gene disorders
 * history of recurrent miscarriages
 * FISH/MLPA
 * testing for specific disorders
 * DNA Testing
 * Single gene disorder
 * Fragile X
 * Uniparental Disomy
 * X-inactivation
 * Methylation Studies
 * Whole Exome Testing
 * Metabolic Studies
 * amino acids, organic acids, lactate, pyruvate, ammonia, glucose
 * testing only if metabolic disorder suspected
 * Radiography
 * delineation of particular skeletal dysplasia
 * determine bone age
 * delayed = hypopituitarism
 * advanced = overgrowth syndromes
 * Ophthalmology Evaluation
 * Corneal Clouding? Iris Anomalies? Retinal Abnormalities? Visual Acuity?
 * Biopsies
 * Skin = ultrastructural analysis, inclusions, collagen studies
 * Nerve = inclusions
 * Muscle = ultrastructural analysis, mitochondria
 * Liver = ultrastructural analysis, mitochondria


 * Follow-Up/Counseling/Management
 * Diagnosis may become apparent with age
 * Natural history of disease with appropriate screening
 * Counseling about genetics, recurrence, prognosis
 * Prenatal diagnosis options
 * Treatment, if any

List of Dysmorphic Features

 * micrognathia
 * cleft lip & palate
 * broad toes
 * ptosis
 * craniosynostosis
 * scaphocephaly/dolichocephaly
 * trigonocephaly
 * turricephaly
 * brachycephaly


 * upslanted eyes
 * downslanted eyes
 * blepharophimosis
 * hypertelorism
 * hypotelorism
 * microcephaly
 * macrocephaly
 * micropthalmia
 * microstomia
 * macroglossia
 * thin vermillion border
 * preauricular tags, pits
 * flat philtrum
 * rectangular nose
 * bulbous nose
 * small ears
 * low-set ears
 * long palpebral fissures
 * bifid uvula
 * velopharyngeal insufficiency
 * retrognathia
 * prognathia
 * midface hypoplasia
 * small nose
 * flat nasal bridge
 * neck webbing
 * pectus carinatum
 * pectus excavatum
 * cafe-au-lait spots
 * pigmented nevi
 * temporal balding
 * hypertrichosis
 * hemihypertrophy
 * brachydactyly
 * clinodactyly
 * arachnodactyly
 * polydactyly
 * syndactyly
 * pes planus
 * pes cavum
 * sandal foot
 * rocker-bottom feet
 * single palmar crease (Simian crease)
 * malformed ears
 * branchial cleft
 * lip pits
 * palmar pits
 * hypoplastic nails
 * earlobe creases
 * round face
 * long face
 * bifid ribs
 * shield chest
 * bell-shaped chest
 * prominent glabella
 * short stature
 * tall stature
 * gynecomastia
 * male with female body habitus
 * cryptorchidism
 * macroorchidism
 * triangular face
 * shortened proximal limbs
 * absent muscle
 * prominent lips
 * periorbital fullness
 * brushfield spots
 * stellate irides
 * ambiguous genitalia
 * tapered fingers
 * hypogonadism

Syndromes/Conditions With Generalized Dysmorphia

 * Tetrasomy 12p
 * Ring X Syndrome
 * Maternal UPD14
 * Brancho-oculo-facial Syndrome
 * Coffin-Lowry Syndrome