Syndromes Associated With Deafness

 

 

 

 

 

 

Question:

Deafness is associated with all except (MAHE)

Options:

(1 ) Cockayne's syndrome

(2 ) Alstrom's syndrome

(3 ) Alport's syndrome

(4 ) Abetalipoproteinemia

 

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Syndromes commonly associated with hearing loss in children

 

It is estimated that at least 30% of congenital hearing loss is due to hereditary factors. Approximately 70% of hereditary hearing loss is non-syndromal.

 

Patterns of inheritance of non-syndromal hearing loss can be autosomal recessive, autosomal dominant, x-linked, and mitochondrial.

 

Here is a list of syndromes commonly associated with hearing loss:

 

ð  Alport syndrome: collagen synthesis disease chracterized by renal disease

ð  Alström syndrome: pigmentary retinopathy, diabetes mellitus, and obesity

ð  Apert Syndrome: craniosynostosis, syndactyly of hands and feet, mental retardation

ð  Branchio-Oto-Renal syndrome: kidney, ears, and neck abnormalities

ð  Charcot-Marie-Tooth: motor and sensory neuropathy, nephritis

ð  CHARGE syndrome: acronym for the set of congenital features: Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness.

ð  Chondrodysplasias, e.g. achondroplasia

ð  Crouzon Syndrome: craniosynostosis, maxillary hypoplasia, shallow orbits

ð  DiGeorge sequence: cardiac defects, Thymus hypoplasia and/or T call-mediated immunodeficiency, and hypocalcemia and/or absence of parathyroids– (part of deletion

22q11 spectrum)

ð  Down Syndrome

ð  Ehlers-Danlos syndrome: synthesis of collagen defects, characterized by hypotonia, ocular abnormalities, joint hypermobility

ð  Friedreich ataxia: spinocerebellar, resulting in progressive gait ataxia

ð  Goldenhar syndrome: incomplete development of the ear, nose, soft palate, lip, and mandible (part of the oculo-auriculo-vertebral spectrum)

ð  Hemifacial microsomia: abnormal development of the lower half of the face, most commonly the ears, the mouth and the mandible (part of the oculo-auriculo-vertebral spectrum)

ð  Hunter syndrome (mucopolysaccharidosis II): a lysosomal storage disease characterized by progressive intellectual impairment, death between 10 and 15 years

 

ð  Hurler syndrome (mucopolysaccharidosis I): a lysosomal storage disease characterized by coarse facial features, skeletal malformations, recurrent otitis media, hepatosplenomegaly, and macroglossia, developmental delay, death by 10 years

ð  Jervell and Lange-Nielsen syndrome: variant of long QT syndrome (see below)

ð  Klinefelter syndrome (XXY): hypogonadism, infertility

ð  Large Vestibular Aqueduct Syndrome: enlargement of vestibular aqueduct in the inner ear

ð  Long QT syndrome: prolongation of QT on ECG, syncope, and sudden death

ð  Neurofibromatosis II (NF2): tumours of the central and peripheral nervous system, including non-malignant vestibuloschwannomas

ð  Noonan syndrome: short stature, characteristic facial features, hypotonia, cardiac abnormalities

ð  Norrie syndrome: retinal detachment, possible mental retardation

ð  Ohdo syndrome: mental retardation, congenital heart disease, blepharophimosis/ptosis, hypoplastic teeth

ð  Osteogenesis imperfecta: disorder of type I collagen metabolism characterized by bone fragility

ð  Osteopetrosis: increased osseous density due to defects in osteoclastic resorption

ð  Pendred syndrome: goitre and hypothyroidism

ð  Pfeiffer syndrome: craniosynostosis

ð  Pierre Robin sequence: craniofacial abnormalities

ð  Refsum syndrome: phytanic acid storage disease characterized by microcephaly, severe developmental delay, hypotonia, hepatomegaly, retinitis pigmentosa and dysmorphic facial features

ð  Saethre-Chotzen Syndrome: craniofacial anomalies including variable craniosynostosis

ð  Stickler syndrome: flat midface, cleft palate, myopia with retinal detachment and cataracts, musculo-skeletal findings

ð  Treacher Collins syndrome: craniofacial abnormalities

ð  Turner syndrome: XO genotype characterized by short stature, infertility, renal abnormalities, chronic otitis media

ð  Usher syndrome: retinits pigmentosa and vitiligo

ð  Velocardiofacial Syndrome: (part of 22q11 deletion spectrum) typical characteristics include cardiac abnormality (especially Fallot's Tetralogy), abnormal facies, t hymic aplasia, cleft palate, hypocalcemia

ð  Waardenburg Syndrome: white forelock, heterochromia of irises