Common Congenital Anomalies Carolyn O’Donnell, MD, PGY-3

Newborn Exam Fontanelle Lungs Eyes/lacrimal ducts Abdomen Nares Femoral pulses Lips/palate/tongue/ frenula GU- testes/female genitalia Ears- pits/tags Hips Clavicles/neck Extremities Brachial pulses Back/spine Chest Skin Heart

Head Enlarged fontanelle Hair- swirls/white forelock Eyes- congenital cataracts, extra folds, hyper/hypotelorism, upslant/downslant Choanal atresia Ear pits/tags, position/rotation Cleft palate/lip Prominent frenula/tongue tie

Red Reflex Rule out opacities between the cornea and the retina Congenital glaucoma: can see large eyes, excess tearing and cloudy corneas. This condition can be clinding An infant with consistently white pupils might have a retinoblastoma tumor

Red Reflex

Tongue Tie (Ankylogossia)

Neck and Chest Cystic hygroma Thyroglossal duct cyst Branchial cleft cyst Pectus excavatum Extra mamillary tissue (3rd nipple) Heart murmur- congenital heart disease

Thyroglossal Duct Cyst

Pectus Excavatum

What syndrome is this?

Extranumerary nipple

Abdomen and GU Omphalocele/gastroschesis/umbilical hernia Scaphoid abdomen- ?congenital diaphragmatic hernia Femoral pulses- aortic coarctation Undescended testes Virilized female Fistulas, hypospadia/epispadias, imperforate anus, Hirschprung’s Posterior urethral valves (no urinating)

Imperforate Anus

Hypospadias

Virilized female

Extremities and Skin Congenital Hip dysplasia Extra digits Single palmar crease Clubbed foot Congenital nevi Hemangiomas

Club Foot

hemangioma

Cleft lip/palate Incidence: about 1 in 600 live births Cleft lip with or without cleft palate Syndromic: associated with another syndrome. Syndromic cleft lip/palate is more common in males Nonsyndromic: isolated finding, not associated with any particular syndrome. Non syndromic tends to be equal between males and females. Consider submucous cleft palate with bifid uvula

Causes Multifactorial: combination of hereditary and environmental factors involved in growth and development Interference with normal development- within the 1st few months of development Medications such as phenytoin, steroids, retinoids (Vitamin A derivatives) Alcohol, hypoxia and dietary deficiencies have been implicated Both single and multiple genes

Cleft lip/palate

Syndromes DeGeorge/velocardiofacial/22q deletion Pierre Robin malformation sequence Apert syndrome Crouzon syndrome Treacher-Collins

Complications Feeding problems Eustacian tube dysfunction secondary to abnormal muscle placement -> serous otitis/middle ear disease/chronic ear infections -> hearing problems Speech problems Dental problems Team approach needed: medical/surgical, dental, speech and hearing

Treatment Surgical repair- usually by plastic surgery- can affect maxillofacial growth pattern Timing of surgery controversial- often in 2 stages. One commonly used plan involves early soft palate repair at age 6 months, followed by hard palate repair at age 6 years. Others involve complete repair at a later age. Involvement with ENT, speech therapy, following hearing tests, dental/orthodontic specialists, social supports.

Undescended Testicle (cryptorchidism) Occurs in 3-4% of full term newborns More common in premature infants- transinguinal migration occurs at 28-40 weeks gestation (under hormonal control) Often the testicle will descend by the time the infant is 9 months old- prevalence is 1% at 1 year of age If there’s no descent by 1 year of age, this warrants further workup One can ask the family to check at home in a warm bath due to retractile testis (due to cremasteric reflex)

Causes Increased incidence in prematurity Increased risk with: Small for gestational age Low birth weight Maternal exposure to estrogen early in pregnancy Twin Sibling with cryptorchidism Conditions associated with low intra-abdominal pressure

Cryptorchidism

Cryptorchidism Complications- Infertility (increased risk with time in abdomen) Increased risk for testicular cancer- approximately 40x normal If neither testicle palpable, endocrine and genetic testing warranted to determine true sex Ultrasound may be helpful to identify the location of the testicle- sometimes not present at all If partially descended, exam should be followed closely to make sure fully descends

Treatments Often surgical (orchiopexy) though some medical treatments have been tried including testosterone and HCG Surgery performed by general surgeon or urologist- usually between 6 and 12 months of age Surgical correction many decrease the risk of cancer though it is still significantly elevated. Another benefit of surgery is more easily identifiable if tumor/mass. Also decreased infertility.

Ear pits and tags There is an association between ear anomalies and hearing loss. Audiologic evaluation is recommended for any ear anomaly Multiple ear anomalies may suggest a kidney problem as well as there is an association and many syndromes contain anomalies in both systems. Renal Ultrasound is not recommended if isolated pit or tag

Preauricular Ear Pit

Ear Tag

Preauricular Ear Tag