Congenital anomaly syndromes


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"Borrowed" from MedStudy 4th Edition

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Congenital anomaly syndromes

  1. 1. Craniofacial SyndromesSyndromeSigns/SymptomsInheritance PatternTreacher-CollinsCleft palate, malar hypoplasia, micrognathia, lower eyelid missing medial lower lid lashes, hearing lossADWaardenburg Partial albinism, white forelock, premature graying, telecanthus, heterchormia of iris, cleft lip/palate, cochlear deafness, occasional absent vagina, occasional HirschsprungADStickler syndrome with Pierre-Robin sequenceMicrognathia, cleft palate, glossoptosis (backward displacement of tongue), airway obstruction, feeding difficulty, high myopia, retinal detachmentADCrouzonCraniosynostosis with turricephaly, proptosis, hypertelorism, strabismus, maxillary hypoplasiaADApertCranioynostosis, brachycephaly, acrocephaly, hypertelorism, proptosis, strabismus, maxillary hypoplasia, narrow palate, syndactyly, “single nails,” broad thumbsADCleidocranial dysostosisBrachycepaly, frontal bossing, wormian bones, delayed eruption of deciduous and permanent teeth, supernumery and fused teeth, hypoplastic/absent clavicles, joint laxityADChromosomal Instability SyndromesSyndromeSigns/SymptomsInheritance PatternAtaxia-telangiectasiaAtaxia, telangectasia, frequent infections, malignancies, growth failure, worsening CNS infectionARXerdoderma pigmentosaPhotosensitivity, skin atrophy, pigmentary changes, malignanciesARBloom IUGR, microcephaly, malar hypoplasia, facial telangiectasia, malignanciesARFanconi anemiaPancytopenia, hypoplastic thumb and radius, hyperpigmentation, abnormal facial featuresAR<br />Syndromes with Short StatureCornelia de LangeIUGR, microcephaly, hirsutism, down turned mouth, heart defects, micro-brachycephaly, micrognathia, low hirline, synophrys (unibrow), long eyelashes, thin upper lip, low set ears, micromelia or phocomelia, 2,3 syndactyly of toesADDubowitzIUGR, telecanthus, ptosis, eczema, low set ears, hypotrichosis, behavioral and developmental disordersARNoonanShort stature, congenital heart defects (commonly PV stenosis), pectus excavatum, webbed neck, hypertelorism, lymphedema,bleeding diathesisADWilliamsGrowth delay, mental retardation, stellate iris, hypoplastic nails, periorbital fullness, anteverted nares, supravalvular aortic stenosis7q11 microdeletionSyndromes with Growth AbnormalitiesPrader-WilliSevere hypotonia at borth, obesity usually after age 2 years, short stature, small hands and feet, hypogonadism, mild mental retardation15q11-13 deletion (paternal)AngelmanJerky, ataxic movements, characteristic gait, hypotonia, fair hair, midface hypoplasia, prognathism, seizures, uncontrollable bouts of laughter, severe mental retardation15q11-13 deletion (maternal)SotosLGA, macrocephaly, prominent forehead, hypertelorism, mental retardation, large hands/feetADBeckwith-WiedemannCoarse facies, macroglossia, ear lob creases, posterior auricular pits, omphalocele, Wilms tumor, cryptorchiism, hemihypertrophyADProteusMacrodactyly, soft tissue hypertrophy, hemihypertrophy, nevi, lipomas, lymphangiomata, hemangiomata, accelerated growthSporadicSyndromes with Limb AbnormalitiesMobiusCranial nerve abnormalities, hypoplastic tongue and/or digit, limb deficiency, absence of the pec major/minor muscles, ipsilateral breast hypoplasiaSporadicRubinstein-TaybiShort stature and limbs, microcephaly, beaked nose, broad thumbs and great toes, CHDs, mental retardatinAD microdeletion<br />Symptoms with Thumb/Radii Defects and Hematologic AbnormalitiesFanconi anemiaPancytopenia, hypoplastic thumb and radius, hyperpigmentation, abnormal facial featuresARDiamnond-BlackfanTriphalageal thumb, radial hypoplasia, hypoplastic anemia, congenital heart defectsADThrombocytopenia-absent radius (TAR)TCP, absent radii, normal thumbs, petechiaeARHolt-OramRadial ray abnormalities (triphalangeal thumb), ASD and other CHDsADSyndromes with Severe Neurologic ManifestationsMeckel-GruberEncephalocele (occipital), microcephaly, polycystic kidney, polydactyly, lethalARMiller-DiekerLissencephaly, microcephaly, micrognathia, anteverted nares, vertical wrinkles of forehead17p-Angelman/Prader-WilliSee aboveWalker-Warburg (HARD+E)Hydrocephalus, agyria, retinal dysplasia, enephaloceleARSturge-WeberHemangioma in trigeminal nerve distribution, glaucoma, seizures, meningeal hamangiomataSporadicRettNormal psychomotor development until about 6-18 months of age, followed by rapid regression in language and motor skills, repetitive stereotypic hand movements replace purposeful hand use, autistic features, episodic apnea and/or hyperpnea, gait ataxia, tremors, seizures and acquired micrcephaly<br />Metabolic Syndromes with Congenital AnomoliesMenkesProgressive neurologic deterioration, sparse and broken hair, skeletal changes, decreased serum copper and ceruloplasminX-linkedZellwegerHypotonia, flat occiput, epicanthal folds, hepatomegaly, camptodactyly, cerebral defects, retinal lesions, renal cysts, peroxismal defectsARGlutaric academiaHepatomegaly, facial dysmorphism, renal cysts, GU abnormalitiesARSmith-Lemli-OpitzShort stature, microcephaly, ptosis, anteverted nares, syndactyly of toes, cryptorchidism, hypospadias, mental retardation, cholesterol metabolism defectARWilson Kayser-Fleischer rings, abnormal copper metabolismARKallmann Short stature, mntal retardation, hypogonadotropic hypogonadism, anosmiaX-linkedOther Miscellaneous SyndromesVATER/VACTERLVertebral defects, anal atresia, tracheoesophageal fistula, radial dysplasia, renal malformations, CHDsSporadicCHARGEColoboma, CHDs, choanal atresia, growth and mental retardation, GU anomalies, ear anomalyMURCSMullerian duct aplasia, renal aplasia, cervicothoracic somite dysplasiaXD/ADMcCune AlbrightMultiple bony fibrous dysplasia, café au lait spots, sexual precocitySporadicAlagille Bile duct paucity with cholestasis, pulmonary artery stenosis, posterior embrytoxon, butterfly vertebrae, characteristic triangular shaped facies with long nose, broad mid nose and pointed chinADNF-1Macrocephaly, neurofibromas, plexiform neurofibroma, dysplasia of the sphenoid bone, malignancies, learning disability, optic glioma, Lisch nodulesAD<br />