Term
| Treacher-Collins syndrome |
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Definition
Cleft palate, micrognathia, lower eyelid missing, hearling loss, colobomata
Symmetric
AD |
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Term
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Definition
Partial albinism, white forelock, iris heterochromia, cleft lip/palate, deafness, vaginal abnormalities, Hirschprungs
AD |
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Term
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Definition
May have Pierre Robin sequence
Micrognathia, cleft palate, feeding difficulty, myopia, glossoptosis, retinal detachment
AD |
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Term
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Definition
Craniosynostosis, proptosis, hypertelorism, strabismus, maxillary hypoplasia
AD |
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Term
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Definition
Craniosynostosis, bracycephaly, acrocephaly, hypertelorism, proptosis, strabismus, high arched palate, syndactyly, broad thumbs, finger fusion
AD |
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Term
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Definition
Brachycephaly, frontal bossing, wormian bones, delayed eruption of teeth, supernumerary teeth, abnormal clavicles
AD |
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Term
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Definition
Ataxia, immunodeficiency, malignancy, growth failure, CNS problems
AR |
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Term
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Definition
Photosensitivity, skin atrophy, malignancy
AR |
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Term
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Definition
| IUGR, microcephaly, malar hypoplasia, telangiectasia |
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Term
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Definition
Pancytopenia, hypoplastic thumb and radius, hyperpigmentation
AR |
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Term
| Cornelia De Lange syndrome |
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Definition
IUGR, microcephaly, hirsutism, heart defects, micrognathia, syndactyly
AD |
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Term
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Definition
IUGR, ptosis, eczema, hypotrichosis
AR |
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Term
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Definition
short stature, pulmonary valve stenosis, pectus excavatum, webbed neck, bleeding, resembles Turners
AD |
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Term
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Definition
Growth delay, MR, stellate iris, hypoplastic nails, periorbital fullness, aortic stenosis, cocktail personality, hypercalcemia
7q11 deletion |
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Term
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Definition
hypotonia, obesity, short stature, small hands and feet, hypogonadism, MR
Paternal 15q11 deletion |
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Term
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Definition
Ataxia, jerky movements, hypotonia, fair hair, seizures, uncontrollable laughter, severe MR
maternal 15q11 deletion |
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Term
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Definition
LGA, macrocephaly, hypertolorism, MR
AD |
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Term
| Beckwith-Wiedemann syndrome |
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Definition
Macroglossia, omphalocele, cryptorchidism, hemihypertrophy, omphalocele
AD |
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Term
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Definition
Macrodactyly, hypertrophy, nevi, accelerated growth
sporadic |
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Term
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Definition
Cranial nerve abnormalities, hypoplastic tongue and digits, limb deficiency, pectoralis major absence, breast hypoplasia
Sporadic |
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Term
| Rubinstein-Taybi syndrome |
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Definition
short stature, microcephaly, broad thumbs, cong heart disease, MR
AD |
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Term
| Diamond-Blackfan syndrome |
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Definition
triphalangeal thumb, radial hypoplasia, hypoplastic anemia, cong heart defects
AD |
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Term
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Definition
Thrombocytopenia, absent radii, petechiae
AR |
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Term
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Definition
Radial abnormalities, ASD, Cong HD
AD |
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Term
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Definition
Encephalocele, microcephaly, dysplastic kidneys, polydactyly. lethal
AR |
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Term
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Definition
| Lissencephaly, microcephaly |
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Term
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Definition
HARD E: Hydrocephalus, agyria, retinal dysplasia, encephalocele
AR |
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Term
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Definition
Hemangioma in trigeminal nerve distribution, glaucoma, seizures
Sporadic |
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Term
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Definition
Progressive neurologic deterioration, sparse hair, skeletal changes, decreased serum copper
X-linked |
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Term
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Definition
Hypotonia, hepatomegaly, cerebral defects, renal cysts
AR |
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Term
| Glutaric acidemia Type II |
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Definition
Hepatomegaly, facial dysmorphism, renal cysts, GU anomalies
AR |
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Term
| Smith-Lemli-Opitz syndrome |
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Definition
Short stature, microcephaly, ptosis, syndactyly, cryptorchidism, hypospadias, MR, cholesterol abnorms
AR |
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Term
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Definition
Kayser-Fleisher rings, abnormal copper metabolism
AR |
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Term
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Definition
Short stature, mental retardation, hypogonadotropic hypogonadism, anosmia
X-linked |
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Term
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Definition
vertebral defects, anal atresia, TE fistula, radial dysplasia, renal malformations, cong HD
sporadic |
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Term
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Definition
| coloboma, cong heart defects, choanal atresia, MR, GU anomalies, ear anomalies |
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Term
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Definition
Bony fibrous dsyplasia, cafe-au-lait spots, sexual precocity
sporadic |
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Term
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Definition
| Bile duct paucity, cholestasis, pulmonary artery stenosis, butterfly vertebrae, triangular facies |
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Term
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Definition
AD
2/7 clinical criteria
6 or more cafe au lait
2 or mor neurofibromas
axillary or inguinal freckling
optic glioma
2 or more lisch nodules
distinctive osseous lesion
first degree relative with NF |
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Term
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Definition
AD
Late onset, acoustic neuomas, schwannomas, gliomas, meningioma, neurofibromas, cataracts
Ch 22 |
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Term
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Definition
| Edwards syndrome. Second most common trisomy. IUGR, MR,, microcephaly, rocker bottom feet, clubfoot, overlapping fingers, heart defects |
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Term
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Definition
| Patau syndrome. Midline defects. cleft, polydactyly, holoprosencephaly, heart defects, abdominal wall defects, cutis aplasia, seizure |
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Term
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Definition
| 5p deletion. Cat's cry, moon face, hypotonia, microcephaly, high palate, MR, heart defects |
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Term
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Definition
| 11p deletion. Wilms tumor, aniridia, GU malformations, MR |
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Term
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Definition
Mildest, most common, blue sclerae, hyperextensibility, delayed fontanelle closure, hearing loss, normal stature, fractures in childhood, wormian bones
Type I collagen defect
AD |
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Term
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Definition
Most severe form, newborn fractures, respiratory insufficiency, soft skull, short stature
AD |
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Term
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Definition
| Newborn fractures, short stature, lightly blue sclerae, neuro complications |
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Term
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Definition
| Milder form, delayed fontanelle closure, fractures at birth, short stature, tibial bowing |
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Term
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Definition
Major features: facial angiofibromas, ungual or periungual fibromas, 3 or more hypomelanotic macules, shagreen patch, hamartomas, cortical tubers, subependymal nodules, astrocytoma, cardiac rhabdomyoma, lymphangiomyomatosis, renal angiomyolipoma
Minor: dental pits, bone cysts, retinal achromic patch, multiple renal cysts |
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Term
| Categories of Fetal Alcohol Syndrome |
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Definition
| Facial, growth, cognitive |
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Term
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Definition
Hemifacial microsomia, ear anomalies, microagnathia, colobomata, cervical abnormalities, MR, cong heart disease
Similar to Treacher-Collins but asymmetric
Sporadic |
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