Pediatric Pathologies
1. Connexin 26 - Connexin 26 (Cx26) is a protein found on the (GJB2) gene and is the most common cause of congenital sensorineural hearing loss. Connexin 26 mutations are responsible for at least 20% of all genetic hearing loss and 10% of all childhood hearing loss.
2. Autosomal Dominant (DFNA) Autosomal Recessive DFNB), X-Linked (DFNX) - Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the following types of nonsyndromic deafness.
3. Alport Syndrome - Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndromeexperience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys.
4. Branchio-Oto-Renal Syndrome - Branchio-oto-renal syndrome (BOR), also known asbranchiootorenal syndrome or BOR syndrome, is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It often has also been described as Melnick-Fraser syndrome.
5. X-Linked Charcot Marie Tooth (CMT) - The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive muscle atrophy and weakness, areflexia, and variable sensory abnormalities; central nervous system manifestations occur, too.
6. Goldenhar Syndrome - Goldenhar syndrome (also known as oculo-auriculo-vertebral (OAV) syndrome) is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible.
7. Jervell and Lange-Nielsen Syndrome - Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge ...
8. Mohr-Tranebjaerg Syndrome (DFN-1) - Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males.
9. Norrie Disease - Norrie disease is a genetic disorder that primarily affects the eye and almost always leads to blindness. In addition to the congenital ocular symptoms, some patients suffer from a progressive hearing loss starting mostly in their 2nd decade of life, and some may have learning difficulties.
10. Pendred Syndrome - Pendred syndrome is a genetic disorder leading to congenital bilateral (both sides) sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism (decreased thyroid gland function).
11. Stickler Syndrome - Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance.
12. Treacher Collins Syndrome - Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss.
13. Waardenburg Syndrome - Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation changes.
14. Usher Syndrome - Usher syndrome is the most common condition that affects both hearing and vision. A syndrome is a disease or disorder that has more than one feature or symptom. The major symptoms of Usher syndromeare hearing loss and an eye disorder called retinitis pigmentosa, or RP
15. Mitochondrial Disorders - Nonsyndromic mitochondrial hearing loss and deafness is characterized by moderate-to-profound hearing loss and a pathogenic variant in either MT-RNR1 or MT-TS1. Pathogenic variants in MT-RNR1 can be associated with predisposition to aminoglycoside ototoxicity and/or late-onset.
16. CHARGE - There is no characteristic hearing loss in CHARGEsyndrome. ... Conductive components, which are due to a combination of ossicular anomalies and middle ear effusion, are often asymmetrical and fluctuating in nature; cochlear hearing loss, often due to cochlear malformations, is typically greater in the high frequencies.
17. Friedreich Ataxia - Friedreich's ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it can also lead to scoliosis, heart disease and diabetes, but does not affect cognitive function.
18. NF2 - Neurofibromatosis type 2 (NF2) is a hereditary condition most commonly associated with bilateral vestibular schwannomas, also known as acoustic neuromas. These are benign (noncancerous) tumors that occur on the nerves for balance leading to the inner ear.
19. Osteogenesis Imperfecta - Significant hearing loss has been reported in approximately 50% of people with osteogenesis imperfecta (OI). While not everyone who has OIdevelops hearing loss, the incidence is much higher than in the general population. Sometimes visible deformities in the ossicles and inner ear can lead tohearing loss.
20. Fetal Alchohol Syndrome - Mild to profound sensorineural hearing loss (average hearing loss of 43db) was found in 43 percent of the patients with FAS, 19 percent with FAE. Additionally, 71 percent of the FAS patients had chronic middle ear disease requiring treatment of surgery; the corresponding rate for FAE patients was 43 percent.
21. Trisomy 21 Down's Syndrome - A sensorineural hearing loss is caused by a problem in the inner ear (cochlea or auditory nerve). These children may need hearing aids from birth. Many other children with Trisomy 21 have poor eustachian tube function and small nasal passages.
22. Crouzon Syndrome - Literature has suggested that persons with Crouzon syndrome typically have conductive hearing loss caused by middle ear effusion (or fluid in the middle ear) and perforation to ossicular fixation (ossicles), intratympanic bony masses (tympanic membrane), ossicular anomalies, and closure of the oval window.
23. Cleft lip and palate - Good hearing is vital to the overall well being of your child. Hearing loss is a common birth defect found in newborns, even in babies without cleft lip or palate. About three in 1000 babies are born with a significant hearing loss, and many more are born with milder hearing problems. In the past, children's hearing could only...
2. Autosomal Dominant (DFNA) Autosomal Recessive DFNB), X-Linked (DFNX) - Nonsyndromic deafness is hearing loss that is not associated with other signs and symptoms. In contrast, syndromic deafness involves hearing loss that occurs with abnormalities in other parts of the body. Genetic changes are related to the following types of nonsyndromic deafness.
- DFNA: nonsyndromic deafness, autosomal dominant
- DFNB: nonsyndromic deafness, autosomal recessive
- DFNX: nonsyndromic deafness, X-linked
- nonsyndromic deafness, mitochondrial
3. Alport Syndrome - Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. People with Alport syndromeexperience progressive loss of kidney function. Almost all affected individuals have blood in their urine (hematuria), which indicates abnormal functioning of the kidneys.
4. Branchio-Oto-Renal Syndrome - Branchio-oto-renal syndrome (BOR), also known asbranchiootorenal syndrome or BOR syndrome, is an autosomal dominant genetic disorder involving the kidneys, ears, and neck. It often has also been described as Melnick-Fraser syndrome.
5. X-Linked Charcot Marie Tooth (CMT) - The X-linked form of Charcot-Marie-Tooth disease (CMT1X) is the second most common form of hereditary motor and sensory neuropathy. The clinical phenotype is characterized by progressive muscle atrophy and weakness, areflexia, and variable sensory abnormalities; central nervous system manifestations occur, too.
6. Goldenhar Syndrome - Goldenhar syndrome (also known as oculo-auriculo-vertebral (OAV) syndrome) is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible.
7. Jervell and Lange-Nielsen Syndrome - Jervell and Lange-Nielsen syndrome is a condition that causes profound hearing loss from birth and a disruption of the heart's normal rhythm (arrhythmia). This disorder is a form of long QT syndrome, which is a heart condition that causes the heart (cardiac) muscle to take longer than usual to recharge ...
8. Mohr-Tranebjaerg Syndrome (DFN-1) - Deafness-dystonia-optic neuronopathy (DDON) syndrome, also known as Mohr-Tranebjærg syndrome, is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems. This condition occurs almost exclusively in males.
9. Norrie Disease - Norrie disease is a genetic disorder that primarily affects the eye and almost always leads to blindness. In addition to the congenital ocular symptoms, some patients suffer from a progressive hearing loss starting mostly in their 2nd decade of life, and some may have learning difficulties.
10. Pendred Syndrome - Pendred syndrome is a genetic disorder leading to congenital bilateral (both sides) sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism (decreased thyroid gland function).
11. Stickler Syndrome - Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals. A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance.
12. Treacher Collins Syndrome - Treacher Collins syndrome (TCS) is a genetic disorder characterized by deformities of the ears, eyes, cheekbones, and chin. The degree to which a person is affected, however, may vary from mild to severe. Complications may include breathing problems, problems seeing, cleft palate, and hearing loss.
13. Waardenburg Syndrome - Waardenburg syndrome is a rare genetic disorder most often characterized by varying degrees of deafness, minor defects in structures arising from the neural crest, and pigmentation changes.
14. Usher Syndrome - Usher syndrome is the most common condition that affects both hearing and vision. A syndrome is a disease or disorder that has more than one feature or symptom. The major symptoms of Usher syndromeare hearing loss and an eye disorder called retinitis pigmentosa, or RP
15. Mitochondrial Disorders - Nonsyndromic mitochondrial hearing loss and deafness is characterized by moderate-to-profound hearing loss and a pathogenic variant in either MT-RNR1 or MT-TS1. Pathogenic variants in MT-RNR1 can be associated with predisposition to aminoglycoside ototoxicity and/or late-onset.
16. CHARGE - There is no characteristic hearing loss in CHARGEsyndrome. ... Conductive components, which are due to a combination of ossicular anomalies and middle ear effusion, are often asymmetrical and fluctuating in nature; cochlear hearing loss, often due to cochlear malformations, is typically greater in the high frequencies.
17. Friedreich Ataxia - Friedreich's ataxia is an autosomal recessive inherited disease that causes progressive damage to the nervous system. It manifests in initial symptoms of poor coordination such as gait disturbance; it can also lead to scoliosis, heart disease and diabetes, but does not affect cognitive function.
18. NF2 - Neurofibromatosis type 2 (NF2) is a hereditary condition most commonly associated with bilateral vestibular schwannomas, also known as acoustic neuromas. These are benign (noncancerous) tumors that occur on the nerves for balance leading to the inner ear.
19. Osteogenesis Imperfecta - Significant hearing loss has been reported in approximately 50% of people with osteogenesis imperfecta (OI). While not everyone who has OIdevelops hearing loss, the incidence is much higher than in the general population. Sometimes visible deformities in the ossicles and inner ear can lead tohearing loss.
20. Fetal Alchohol Syndrome - Mild to profound sensorineural hearing loss (average hearing loss of 43db) was found in 43 percent of the patients with FAS, 19 percent with FAE. Additionally, 71 percent of the FAS patients had chronic middle ear disease requiring treatment of surgery; the corresponding rate for FAE patients was 43 percent.
21. Trisomy 21 Down's Syndrome - A sensorineural hearing loss is caused by a problem in the inner ear (cochlea or auditory nerve). These children may need hearing aids from birth. Many other children with Trisomy 21 have poor eustachian tube function and small nasal passages.
22. Crouzon Syndrome - Literature has suggested that persons with Crouzon syndrome typically have conductive hearing loss caused by middle ear effusion (or fluid in the middle ear) and perforation to ossicular fixation (ossicles), intratympanic bony masses (tympanic membrane), ossicular anomalies, and closure of the oval window.
23. Cleft lip and palate - Good hearing is vital to the overall well being of your child. Hearing loss is a common birth defect found in newborns, even in babies without cleft lip or palate. About three in 1000 babies are born with a significant hearing loss, and many more are born with milder hearing problems. In the past, children's hearing could only...