Important Congenital Anomaly Syndromes Flashcards
What is the most common heart defect seen in patients with Noonan syndrome?
Pulmonary valve stenosis
A patient presents with cleft palate, malar hypoplasia, micrognathia, absence of medial lower eyelid lashes, hearing loss, and ear anomalies. What congenital anomaly syndrome do you suspect?
Treacher-Collins Syndrome
Affected patients have: partial albinism, white forelock, premature graying, telecanthus (lateral displacement of the inner canthi of the eyes), heterochromia of the iris, cleft lip/palate, cochlear deafness, occasional absent vagina, and occasional Hirschsprung disease. What congenital anomaly syndrome do you suspect?
Waardenburg syndrome I
A patient presents with Pierre Robin sequence, high myopia, retinal detachment, and midface hypoplasia. What congenital anomaly syndrome do you suspect?
Stickler syndrome
A patient presents with craniosynostosis with turricephaly, proptosis, hypertelorism, strabismus, and maxillary hypoplasia. What congenital anomaly syndrome do you suspect?
Crouzon syndrome
A patient presents with craniosynostosis, brachycephaly, acrocephaly, hypertelorism, proptosis, strabismus, maxillary hypoplasia, narrow palate (“cathedral ceiling”), syndactyly, and broad thumbs (often with associated mitten hand deformity). What congenital anomaly syndrome do you suspect?
Apert syndrome
A patient presents with Brachycephaly, frontal bossing, wormian bones, delayed eruption of deciduous and permanent teeth, supernumerary and fused teeth, hypoplastic/absent clavicles, and joint laxity. What congenital anomaly syndrome do you suspect?
Cleidocranial dysostosis
Affected individuals have: ataxia, telangiectasia, frequent infections, malignancies, growth failure, and worsening CNS function. Carriers have an increased risk of breast cancer. What congenital anomaly syndrome do you suspect?
Ataxia-telangiectasia
A patient presents with IUGR, microcephaly, malar hypoplasia, facial telangiectasias, and malignancies. What congenital anomaly syndrome do you suspect?
Bloom syndrome
A patient presents with Pancytopenia, hypoplastic thumb and radius, hyperpigmentation, and abnormal facial features. What congenital anomaly syndrome do you suspect?
Fanconi anemia
A patient presents with photosensitivity, skin atrophy, pigmentary changes, and malignancies. What congenital anomaly syndrome do you suspect?
Xeroderma pigmentosa
A patient presents with short stature, congenital heart defects (most commonly PS), pectus excavatum, webbed neck, low-set ears, hypertelorism, lymphedema, and bleeding diathesis. What congenital anomaly syndrome do you suspect?
Noonan syndrome
A patient presents with growth delay, intellectual disability, stellate iris, hypoplastic nails, periorbital fullness, anteverted nares, supravalvular aortic stenosis, and friendly “cocktail party” personality. What congenital anomaly syndrome do you suspect?
Williams syndrome
A patient presents with IUGR, microcephaly, hirsutism, down-turned mouth, heart defects, microbrachycephaly, micrognathia, low hairline, synophrys, long eyelashes, thin upper lip, low-set ears, micromelia, phocomelia, and 2,3 syndactyly of the toes. What congenital anomaly syndrome do you suspect?
Cornelia de Lange syndrome
A patient presents with IUGR, telecanthus, ptosis, eczema, hypotrichosis, behavioral and developmental disorders. What congenital anomaly syndrome do you suspect?
Dubowitz syndrome
A patient presents with severe hypotonia at birth, obesity (after 2 years of age), short stature, hypogonadism, mild intellectual disability, and small hands and feet. What congenital anomaly syndrome do you suspect?
Prader-Willi syndrome
A patient presents with jerky ataxic movements, microcephaly, hypotonia, midface hypoplasia, prognathism, seizures, uncontrollable bouts of inappropriate laughter, and severe intellectual disability. What congenital anomaly syndrome do you suspect?
Angelman syndrome
A patient presents with LGA, generalized overgrowth, macroglossia, ear lobe creases, posterior auricular pits, omphalocele, Wilms tumor, cryptorchidism, and hemihypertrophy. What congenital anomaly syndrome do you suspect?
Beckwith-Wiedemann syndrome
A patient presents with LGA, macrocephaly, prominent forehead, hypertelorism, intellectual disability, and large hands/feet. What congenital anomaly syndrome do you suspect?
Sotos syndrome
A patient presents with macrodactyly, soft/connective tissue hypertrophy, hemihypertrophy, nevi, lipomas, lymphangiomata, hemangiomata, and accelerated growth. What congenital anomaly syndrome do you suspect?
Proteus syndrome
A patient presents with Cranial nerve abnormalities, hypoplastic tongue and/or digits, limb deficiency, Poland anomaly (absence of the pectoralis major/minor muscles), ipsilateral breast hypoplasia. What congenital anomaly syndrome do you suspect?
Mobius syndrome
A patient presents with short stature and limbs, microcephaly, beaked nose, broad thumbs and great toes, congenital heart disease, and intellectual disability. What congenital anomaly syndrome do you suspect?
Rubinstein-Taybi syndrome
