Term
| This disorder is categorized as having dementia (which develops in the early 40s), SNHL in childhood, optic atrophy in early adulthood, and dystonia and ataxia in adolescence. |
|
Definition
| Deafness-Dystonia-Optic-Neuronopathy Syndrome (DDONS) |
|
|
Term
| What is the mode of inheritance for Deafness-Dystonia-Optic-Neuronopathy Syndrome? What gene was identified? |
|
Definition
| X-linked recessive; TIMM8A |
|
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Term
| This syndrome is characterized by premature fusion of certain skull bones, webbed or fused fingers and toes, a sunken middle face, bulging and wide set eyes, a beaked nose, normal to moderate intellectual disability, and more |
|
Definition
|
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Term
| What kind of hearing loss is associated with Apert Syndrome? Mode of inheritance? |
|
Definition
| Usually a mild-moderate CHL due to OM. It can be SNHL or even normal hearing though. Autosomal dominant. |
|
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Term
| A condition that causes profound hearing loss from birth and a disruption of the heart’s normal rhythm. This disruption in rhythm is the result of a prolonged QT interval |
|
Definition
| Jervell and Lange-Nielsen syndrome (JLNS) |
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Term
| What is the inheritance pattern for JLNS? What gene is affected? |
|
Definition
| Autosome recessive; KCNQ1 and KCNE1 |
|
|
Term
| What are the auditory characteristics of JLNS? |
|
Definition
| Profound congenital SNHL, bilaterally. The stria vascularis is usually affected |
|
|
Term
| What does CHARGE stand for? |
|
Definition
| Coloboma, heart defects, atresia, growth retardation, genital abnormalities, and ear abnormalities |
|
|
Term
| What kind of HL is associated with CHARGE? |
|
Definition
| There isn't a typical HL. The most common form is an asymmetrical mixed HL. |
|
|
Term
| What gene is mutated for CHARGE? |
|
Definition
|
|
Term
| What are some ear malformations with CHARGE? |
|
Definition
| soft and floppy ears, stenotic canals, ossicular malformations, often malformed/missing cochlea, missing SCC, and/or auditory neural structures are reduced/absent |
|
|
Term
| What is the mode of inheritance of CHARGE? |
|
Definition
|
|
Term
| What mode of inheritance is Hunters Syndrome? |
|
Definition
|
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Term
| Hunter's Syndrome is an inherited genetic disorder caused by a missing or malfunctioning ___. Because the body doesn't have enough of the enzyme to break down certain complex molecules, the molecules build up in ___ amounts. The symptoms include ___ ___, ___ facial features (large forehead, thick neck, tongue and lips, bushy eyebrows, and flattened nose), ___ can be impaired, HL, ___ stiffness, ___ ___ syndrome, sleep apnea, poor ___ vision, thickening of the ___ ___, obstructive ___ disease, enlarged ___ and ___, and frequent bouts of ___ |
|
Definition
| enzyme; harmful; stunted growth; coarse; intelligence; joint; carpal tunnel; peripheral; heart valves; airway; liver and spleen; OM |
|
|
Term
| What is the life expectancy for Hunter's Syndrome? |
|
Definition
|
|
Term
| What kind of HL is associated with Hunter's Syndrome? |
|
Definition
| Moderate mixed HL mixed/conductive HL |
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Term
| Very rare genetic disease resulting from a lack of phytanoyl-CoA hydroxylase enzymes in peroxisomes that break down phytanic acid. Characterized by retinitis pigmentosa, loss of smell (anosmia), sensory motor neuropathy, bilateral mild-profound SNHL (mid and high frequencies), dry scaly skin, short metacarpals and metatarsals, and cardiac arrhythmias and cardiomyopathy |
|
Definition
|
|
Term
| What mode of inheritance is Refsum Disease? What gene mutation causes this disease? |
|
Definition
| Autosomal recessive; PHYH gene |
|
|
Term
| Wildervanchk syndrome is extremely rare and mostly seen in ___. It's characterized as having abnormal union or fusion of two or more bones on the ___ ___, congenital and non-progressive type of ___ due to abnormal development of CN VI (abducens), impaired or absent ability to move the eyes outward (___), inward (___), or both, and a HL that can be ___-___. |
|
Definition
| females; cervical vertebrae; strabismus; abduction; adduction; moderate-profound |
|
|
Term
| What kind of mode of inheritance is associated with Wildervanchk Syndrome? |
|
Definition
|
|
Term
| What kind of ear malformations are associated with Wildervanchk Syndrome? |
|
Definition
| EAC, EAM, ossicles, cochlea, 8th nerve, and bony labyrinth |
|
|
Term
| Pendred syndrome accounts for __-__% of hereditary HL. Features include a ___, ___ malformation, enlarged ___ ___, a bilateral __-__ SNHL and vestibular problems. The HL is seen at ___ or __ years of age |
|
Definition
| 5-10; goiter; mondini; vestibular aqueducts; severe-profound; birth; 3 |
|
|
Term
| What mode of inheritance is associated with Pendred Syndrome? |
|
Definition
|
|
Term
| This syndrome is characterized by an improper fusion of skull, bulging of the lateral frontal bone, bulging of the eyes, HL, crossed eyes, dental problems, respiratory issues, intracranial issues, hypertension, hydrocephalus, and a beaked shaped nose. |
|
Definition
|
|
Term
| What kind of HL is associated with Crouzon Syndrome? Mode of inheritance? |
|
Definition
|
|
Term
| This disease is caused by a change in the NDP gene that is located on the X chromosome which plays an important roll in eye development and creating a blood supply to tissues of the retina, inner ear, and other body systems. Eye problems are the main symptom. Some other symptoms are intellectual disability, dementia, seizures, psychosis, hallucinations, and aggressive behavior |
|
Definition
|
|
Term
| What kind of HL is associated with Norrie disease? Mode of inheritance? |
|
Definition
| Progressive SNHL; x-linked recessive |
|
|
Term
| This disease is associated with vertigo, fluctuations in hearing, tinnitus, and aural fullness. Symptoms usually start in one ear. Hearing loss is usually in the low frequencies. |
|
Definition
| Hereditary Meniere's disease |
|
|
Term
| What mode of inheritance is associated with hereditary meniere's disease? |
|
Definition
| possibly autosomal dominant |
|
|
Term
| The major symptoms of this syndrome are hearing loss and an eye disorder called retinitis pigmentosa, or RP. It is the leading genetic cause of deaf-blindness. |
|
Definition
|
|
Term
| What mode of inheritance is associated with Usher Syndrome? |
|
Definition
|
|
Term
| Otopalatodigital syndrome is a ___ disorder. It affects ___ system development. Identified by a malformation of the ___, underdevelopment of the ___, and disformed bones in ___ and ___. |
|
Definition
| spectrum; skeletal; ossicles; palate; fingers and toes |
|
|
Term
| What HL is associated with Otopalatodigital syndrome? |
|
Definition
| Conductive or SNHL; can have slow speech |
|
|
Term
| What gender is more commonly affected with Otopalatodigital syndrome? What is the mode of inheritance? |
|
Definition
|
|
Term
| This disorder makes the body unable to recycle the vitamin biotin |
|
Definition
|
|
Term
| Where do we get biotin from? |
|
Definition
|
|
Term
| What are some symptoms of Biotinidase Deficiency? |
|
Definition
| Hypotonia (state of low muscle tone), HL, vision loss, ataxia, intellectual disability, breathing problems, and possible seizures |
|
|
Term
| What kind of HL is associated with Biotinidase Deficiency? Mode of inheritance? |
|
Definition
| Bilateral SNHL ranging from moderate-severe. HL occurs in 75% of children who aren't treated. Hearing/vision loss doesn't return with treatment. Autosomal recessive. |
|
|
Term
| What are the 4 clinical features of BOR syndrome? |
|
Definition
| Second branchial arch cleft/sinus, HL (CHL, SNHL, or mixed), malformations of the outer middle and/or inner ear, and renal anomalies |
|
|
Term
| What is the mode of inheritance for Biotinidase Deficiency? |
|
Definition
|
|
Term
| What is the mode of inheritance of BOR syndrome? |
|
Definition
|
|
Term
| Is a genetic disorder that effects the connective tissue of the body and presents as a multi-symptom disorder |
|
Definition
|
|
Term
| Stickler syndrome occurs in 1/___ births |
|
Definition
|
|
Term
| What are the 3 hallmark characteristics of Stickler Syndrome? |
|
Definition
| Hearing loss (high frequ. SNHL or sometimes CHL), vision problems (cataracts, myopia, and vitreoretinal degeneration), and craniofacial/musuloskeletal problems (loose/flexible joints, early arthritis, and spinal abnormalites) |
|
|
Term
| How many types of Stickler Syndrome are there and what mode of inheritance are each? |
|
Definition
| There are 5. Types 1-3 are autosomal dominant and types 4 and 5 are autosomal recessive |
|
|
Term
| How many people does BOR syndrome effect? |
|
Definition
|
|
Term
| How many people are effected by Otopalatodigital Syndrome? What about Usher Syndrome? |
|
Definition
| 1/100,000; 1-4 per 25,000 people |
|
|
Term
| Most common Chromosomal disorder caused by additional chromosome 21 during cell division |
|
Definition
|
|
Term
| About 1 in every ___ babies are born with Down Syndrome in United States |
|
Definition
|
|
Term
| What are some common physical features of Down Syndrome? Cognitive and developmental? What about hearing loss? |
|
Definition
-Physical: upward slanted eyes, low muscle tone, single deep crease across the palm.
-Intellectual and developmental delays: cognition is affected, language acquisition is effected, and fine motor skills are effected.
-HL: 75% of cases have HL. CHL or mixed HL are most common |
|
|
Term
| Inherited autosomal dominant, auditory-pigmentary disorder. This syndrome affects individuals hearing and pigmentation of irides, skin, and/or hair. A formal diagnosis is made by 2 major criteria or one major feature plus 2 minor criteria. |
|
Definition
|
|
Term
| 60% of people with Waardenburg Syndrome have congenital (non-progressive) ___ ___HL, typically bilaterally |
|
Definition
|
|
Term
| What are some additional features of Waardenburg syndrome? |
|
Definition
| A white forelock, heterochromia, skin hypopigmentation, and vestibular anomalies |
|
|
Term
| A rare genetic condition (1 in 50,000) that alter the development of facial bones and tissues in utero. Individuals with this condition will work closely with a multi-disciplinary team of professionals to reach a diagnosis and to decide on a plan for treatment |
|
Definition
| Treacher-Collins Syndrome |
|
|
Term
| What are some features of Treacher-Collins? |
|
Definition
-Underdeveloped facial bones
-Small jaw and chin
-Cleft palate
-Downward-slanted eyes
-Sparse eyelashes
-Eyelid coloboma
-Absent, small, or unusually formed ears
-Normal intelligence |
|
|
Term
| What does HL/ears look like in Treacher Collins? |
|
Definition
-50% of cases have HL
-Usually a CHL due to ME abnormalities
-External ear-often absent, small or malformed microtia
-Can have stenotic canals, atresia, and pits and tag |
|
|
Term
| -___ are proteins that form gap junctions within cells, which allow nutrients, ions, and molecules to be transported between cells; forms gap junctions in the stria vascularis, which allows for ions to be transported to endolymph to maintain the high potassium concentration |
|
Definition
|
|
Term
| What are the 2 types of HL associated with Connexin 26 (GJB2 gene)? |
|
Definition
| DFNB1 (most common) and DFNA3 |
|
|
Term
| What type of HL is associated with Connexin 30 (GJB6 gene)? |
|
Definition
|
|
Term
| What syndrome has kidney problems, eye abnormalities like anterior lenticonus and cataracts, and progressive high frequency SNHL? |
|
Definition
|
|
Term
| What mode of inheritance does Alport Syndrome have? |
|
Definition
| 80% of cases are X-linked (COL4A5 gene), 15% of cases are autosomal recessive (COL4A3 or COL4A4 gene mutation), and 5% of cases are autosomal dominant (COL4A3 or COL4A4 gene mutation) |
|
|
Term
| What is the mode of inheritance for Wildervanchk syndrome? |
|
Definition
| It's sporadic. There is no set pattern. |
|
|
Term
| What gene mutations causes Apert Syndrome? |
|
Definition
|
|
Term
| What gene mutation causes Hunter's Syndrome? |
|
Definition
|
|
Term
| What could possibly cause Wildervanchk syndrome? |
|
Definition
| X chromosome deletion or mutation in FGF13 |
|
|
Term
| What the most common gene mutation for Treacher Collins? |
|
Definition
|
|
Term
| What is the gene mutation for Neurofibromatosis type 2? |
|
Definition
|
|
Term
| What are the genes for Connexin 26 and Connexin 30? |
|
Definition
|
|
Term
| What is the gene mutation for Pendred Syndrome? |
|
Definition
|
|
Term
| What gene mutation causes Crouzon syndrome? |
|
Definition
|
|
Term
| What gene mutation causes Norrie disease? |
|
Definition
|
|
Term
| What possibly causes hereditary meniere's disease? |
|
Definition
| A mutation on chromsome 6 on the short arm-region HLA |
|
|
Term
| What gene mutation causes Usher syndrome? |
|
Definition
|
|
Term
| What gene mutation causes Otopalatodigital syndrome? |
|
Definition
|
|
Term
| What gene mutation causes Biotinidase deficiency? |
|
Definition
|
|
Term
| What gene mutations cause BOR syndrome? |
|
Definition
|
|
Term
| What gene mutation causes Stickler Syndrome? |
|
Definition
|
|
Term
| What causes down syndrome? |
|
Definition
| an additional chromsome 21 |
|
|
Term
| What gene mutation causes Waardenburg Syndrome? |
|
Definition
|
|
Term
| What gene mutation causes Alport syndrome? |
|
Definition
|
|
Term
| What kind of hearing loss is associated with Refsum Disease? |
|
Definition
| bilateral mild-profound SNHL (mid and high frequencies) |
|
|
