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Terms in this set (37)
Al-Gazali-Bakalinova Syndrome AGBK
Due to AR mutations in KIF7. Macrocephaly, dysmorphic facies, clinodactyly, genu valgum, multiple epiphyseal dysplasia. ACC and frontotemporal atrophy.
Aka EIEE6, due to AD mutations in SCN1A. Febrile seizures and later other seizure types, often refractory.
Due to AR mutations in ERCC8. Cachetic dwarfism, progeroid appearance. Neurological degeneration leads to early death around 13 yo. See Cockayne B, xeroderma pigmentosum, other DNA repair disorders.
Genetics uninown. Aka OCCS- oculocerebrocutaneous Syndrome. Orbital cysts (eyes), ACC, ventricular abnormalities, skin tags, psychomotor retardation
AR, microcephaly, abnormal facies, hyperactivity, hypotonia, speech delay
Dandy Walker Malformation
Absent or hypoplastic cerebellar vermis, enlarged 4th ventricle, right and left cerebellar hemispheres may also be small. Can lead to ID, spastic paraplegia, seizures, motor delay.
Galloway Mowat Syndrome
AR disorder due to mutations in WDR73. Microcephalic--cerebellar and sometimes cortical atrophy. Can have optic atrophy, movement disorders, seizures, nephrotic syndrome.
Cerebellar vermis hypoplasia, Molar tooth sign, breathing dysregulatuon, dev delay. Can have retinal and renal findings. About 40 known genes
AD due to KMT2D mutations. Distinctive facies, ID, can have CHD, postnatal growth retardation, seizures
AD due to mutations in SEMA3E or CHD7. Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of Growth, Genital Hypoplasia, Ear abnormalities/deafness
AR due to ORC1 mutations (-1) Primordial dwarfism, sometime miceocephaly without ID
Caused by POMT1 mutations. Now called congenital muscular dystrophy-dystroglycanopathy. Like MEB. Cobblestone lissencephaly, profound ID, early death
XO thought to be often mosaic. Webbed neck, heart defects, normal intelligence, short stature, usually infertile
ID, cataracts, short, hypogonadism
Phenylketonuria, AR due to mutations in PAH gene, phenylalanine hydroxylase. Can't turn phenylalanine into tyrosine. Hyperphenylalaniemia is neurotoxic. Treated with low phenylalanine diet.
maple syrup urine disease
Branched chain ketoacid dehydrogenase deficiency. AR due to mutations in DBT, BCKDHA, BCKDHB. Treated by restriction to BCAA-free protein diet.
AD, caused by mutations in ZEB2. ID, motor delay, epilepsy, other. Includes some ppl with dx of Hirschsprung or Goldberg-Shprintzen
AD, Deletion of 27 genes on Chr7. Elfin facies, small, very verbal with eye contact
XXY, or XXXY. Often undiagnosed till adulthood. Sterility, tall, normal intelligence
AD, AR, mutations in TREX1. Was called pseudo-TORCH because it looked like infection on MRI and in interferonnlevels. Cerebral swelling followed by atrophy, leukodystrophy, calcifications, progressive microcephaly, spasticity, psychomotor retardation and early death. TREX1 is a DNA exonuclease, clears damaged DNA. Then thought to lead to an autoimmune response.
ACC, spinal skeletal abnormalities and chorioretinal abnormalities.
Duchenne muscular dystrophy
Total or partial CC absence, moderate/severe ID/MR, polydactyly. KIF7 mutations are similar/subset (Al-Gazali-Bakalinova syndrome and Joubert12)
AD due to mutations in mutations in SON gene.
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