Terms in this set (42)
characterized by severe hypotonia at birth, uncontrolled eating, small hands and feet, short stature, hypogonadism, mental retardation and behavior problems in adults, caused by deletion of chromo 15 or maternal uniparental disomy for chromo 15, or a mutation involving imprinting
puppet like gait, large mouth, small head, prominent jaw, ataxia, sudden bursts of inappropriate laughter. Seizures, severe intellectual disability, paucity of speech, hyperactivity, fascination of water, hand flapping, sleep disturbances, gorging
is a disorder characterized by a distinctive facial appearance, LGA, overgrowth in childhood, and learning disabilities or delayed development. Characteristic facial features include a long, narrow face; a high forehead; flushed (reddened) cheeks; and a small, pointed chin. Frequent behavioral issues include (ADHD), phobias, obsessions and compulsions, tantrums, and impulsive behaviors. Problems with speech and language are also common.
Congenital disorder characterized by neonatal hypoglycemia, coarse facies, macroglossia, large size, visceromegaly, omphalocele and characteristic earlobe crease
Mutation on either chromosome 10 or chromosome 16; Partial enlargement of the hands and/or feet; darkened, discolored skin, often raised and rough; overgrowth of one side of the face, body, or limbs; accelerated growth
Cornelia De Lange Syndrome
Autosomal Dominant: IUGR; microcephaly; hirutism; down-tunred mouth; heart defects; micrognathia; low hairline; long eyelashes; thin upper lilp; 2,3 syndactyly of toes
Autosomal Recessive: IUGR, telecanthus, ptosis, eczema; hypotrichosis; behavioral and developmental disorders
Autosomal dominant inherited condition characterized by wide set eyes, pulmonic stenosis, abnormally shaped chest, webbed neck, undescended testicles, and delayed puberty
microdeletion of long arm of chromosome 7 characterized by: elfin face, mental retardation, hypercalcemia, well-developed verbal skills, extreme friendliness with strangers, hypoplastic nails, anteverted nares, supravalvular aortic stenosis
Autosomal dominant condition characterized by symmetrical external and middle ear, hearing loss, mandibular hypoplasia, parrotbeaked nose, and absence of medial lower eyelashes.
Autosomal dominant: Pigmentation disturbances (frontal white patch of hair and different colored eyes) and cochlear deafness
Pierre Robin Syndrome
Autosomal dominant: Triad of mandibular hypoplasia (micrognathia), glossoptosis & cleft palate
Autosomal Dominant: Craniosynostosis, proptosis, hypertelorism, strabismus, maxillary hypoplasia
Autosomal Dominant: Syndactyly, craniosynostosis, maxillary hypoplasia, narrow palate ("cathedral ceiling"), broad thumbs, fusion of 2,3 and 4 fingers
Autosomal Dominant: Brachycephaly, frontal bossing, delayed erruption of permanent teeth/fused teeth, hypoplastic/absent clavicles, joint laxity
Autosomal Recessive: Triad of cerebellar defects (ataxia), spider angiomas (telangiectasia), IgA deficiency. Defect in DNA repair enzymes.
Photosensitivity, skin atrophy, pigmentary changes, malignancies
Autosomal Recessive: Dwarfism, face shape, malignancy
Autosomal Recessive: Pancytopenia, hypoplastic thumb and radius, hyperpigmentation, abnormal facial features
Sporadic inheritance: Cranial nerve abnormalities, hypoplastic tongue and/or digits, limb deficiency, Poland anomaly (abscence of pectoralis major/minor muscles), ipsilateral breast hypoplasia
Autosomal Dominant: mental retardation, short stature, facial anomalies, broad thumbs and toes
Autosomal Dominant: Triphalangeal thumb, radial hypoplasia, hypoplastic anemia, congenital heart defects
Autosomal Recessive: Thrombocytopenia, absent radii, normal thumbs, petechiae
Autosomal Dominant: Triphalangeal thumb, ASD, congenital heart disease
Autosomal Recessive: Encephalocele (occipital), microcephaly, polycystic kidney, polydactyly, lethal
Lissencephaly, microcephaly, micrognathia, anteverted nares, vertical wrinkles of forehead
Autosomal Recessive: HARDE --> Hydrocephalus, Agyria, Retinal dysplasia, encephalocele
Sporatic inheritance: Hemangioma in trigeminal nerve distribution, glaucoma, seizures, meningeal hemangiomata
Neurodevelopmental disorder of childhood characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, gait abnormalities, seizures, and mental retardation; affects females almost exclusively; included in autism spectrum disorders.
X-linked: Defect in an intestinal copper transport protein. Clinical features include pili torti, short, brittle "steel-wool" hair, and spare eyelashes and sparse broken eyebrows. The skin is often hypopigmented with a soft, "doughy" consistency and redundancy. metaphyseal widening with spurs in the long bones
Autosomal Recessive: Rare hereditary disorder affecting infants. Problems in prenatal development, enlarged liver, high levels of iron and copper in the blood, hypotonia and vision abnormalities. Death by age 6.
Glutaric Acidemia Type II
Autosomal Recessive: Hepatomegaly, facial dysmorphism, renal cysts, GU abnormalities
Autosomal Recessive: Short stature, microcephaly, ptosis, anteverted nares, syndactyly of toes 2,3; cryptochidism, hypospadias, mental retardation, cholesterol metabolism defect
Autosomal Recessive: Kayser-Fleisher rings, abnormal copper metabolism
X-linked: Short stature, mental retardation, hypogonadotropic hypogonadism, anosmia
X-linked and Autosomal Recessive: Hypertelorism, high nasal bride, cleft lip/palate, hypospadia, laryngotracheoesophageal cleft
Sporadic Inheritance: Multiple bony fibrous dysplasia, cafe-au-lait spots, sexual precocity
Autosomal Dominant: Bile duct paucity with cholestasis, pulmonary artery stenosis, butterfly vertebrae, triangular shaped facies
Neurofibromatosis Type I
Autosomal Dominant: Macrocephaly, neurofibroma, learning disability, optic glioma, Lisch nodules
Sporadic Inheritance: Vertebral Defects, anal atresia, tracheoesophageal fistula, radial dysplasia, renal malformations, congenital heart defect
Coloboma, congenital heart defects, choanal atresia, growth and mental retardation, GU anomalies (hypogonadism), ear anomaly
Sporadic Inheritance: Mullerian duct aplasia, renal aplasia, cervicothoracic somite dysplasia
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