Hearing impairment, and Recurrent respiratory infections

Diseases related with Hearing impairment and Recurrent respiratory infections

In the following list you will find some of the most common rare diseases related to Hearing impairment and Recurrent respiratory infections that can help you solving undiagnosed cases.

Top matches:

Primary ciliary dyskinesia-33 is an autosomal recessive disorder characterized by recurrent upper and lower respiratory infections due to defective ciliary clearance and resulting in chronic lung disease. Some patients may have recurrent ear infections resulting in conductive hearing impairment. Examination of respiratory cilia shows subtle movement defects. Laterality defects have not been reported (summary by Olbrich et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 33; CILD33 Is also known as ciliary dyskinesia, primary, 33, without situs inversus

Related symptoms:

  • Hearing impairment
  • Recurrent infections
  • Conductive hearing impairment
  • Respiratory tract infection
  • Cough


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 33; CILD33

Other less relevant matches:

CILIARY DYSKINESIA, PRIMARY, 2; CILD2 Is also known as ciliary dyskinesia, primary, 2, with or without situs inversus

Related symptoms:

  • Hearing impairment
  • Respiratory distress
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Cough


SOURCES: OMIM MESH MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 2; CILD2

Primary ciliary dyskinesia-38 is an autosomal recessive disorder characterized by chronic airway disease and recurrent sinopulmonary infections beginning in infancy and caused by defective ciliary function. Affected individuals often have neonatal respiratory distress and may later have infertility. About half of patients have laterality defects due to ciliary dysfunction in early embryonic development (summary by Fassad et al., 2018 and Hoben et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of primary ciliary dyskinesia, see CILD1 (OMIM ).

CILIARY DYSKINESIA, PRIMARY, 38; CILD38 Is also known as ciliary dyskinesia, primary, 38, with or without situs inversus

Related symptoms:

  • Respiratory distress
  • Conductive hearing impairment
  • Cough
  • Infertility
  • Dyskinesia


SOURCES: OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 38; CILD38

Primary ciliary dyskinesia - retinitis pigmentosa is an X-linked ciliary dysfunction of both respiratory epithelium and photoreceptors of the retina leading to ocular disorders (mild night blindness, constriction of the visual field, and scotopic and photopic ERG responses reduced to 30-60%) associated with primary ciliary dyskinesia (see this term) manifestations (chronic bronchorrhea with bronchoectasis and chronic sinusitis) and sensorineural hearing loss.

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Renal insufficiency
  • Recurrent respiratory infections
  • Rod-cone dystrophy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about PRIMARY CILIARY DYSKINESIA-RETINITIS PIGMENTOSA SYNDROME

Reticular dysgenesis is the most severe form of severe combined immunodeficiency (SCID; see this term) and is characterized by bilateral sensorineural deafness and a lack of innate and adaptive immune functions leading to fatal septicemia within days after birth if not treated.

RETICULAR DYSGENESIS Is also known as congenital aleukia|scid with leukopenia|de vaal disease|hematopoietic hypoplasia, generalized|reticular dysgenesia|congenital aleukocytosis|severe combined immunodeficiency with leukopenia|ak2 deficiency|aleukocytosis|generalized hematopoietic hypoplasia

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Anemia
  • Fever
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about RETICULAR DYSGENESIS

BBS16 is an autosomal recessive ciliopathy characterized by retinal degeneration, obesity, renal disease, and cognitive impairment. Although polydactyly is considered a primary feature of BBS overall, it has not been reported in any BBS16 patient (Billingsley et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of Bardet-Biedl syndrome, see BBS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Cognitive impairment


SOURCES: OMIM MENDELIAN

More info about BARDET-BIEDL SYNDROME 16; BBS16

Severe combined immunodeficiency (SCID) due to DNA-PKcs deficiency is an extremely rare type of SCID (see this term) characterized by the classical signs of SCID (severe and recurrent infections, diarrhea, failure to thrive), absence of T and B lymphocytes, and cell sensitivity to ionizing radiation.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY Is also known as scid due to dna-pkcs deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO DNA-PKCS DEFICIENCY

Top 5 symptoms//phenotypes associated to Hearing impairment and Recurrent respiratory infections

Symptoms // Phenotype % cases
Ciliary dyskinesia Uncommon - Between 30% and 50% cases
Respiratory tract infection Uncommon - Between 30% and 50% cases
Dyskinesia Uncommon - Between 30% and 50% cases
Otitis media Uncommon - Between 30% and 50% cases
Bronchiectasis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Recurrent respiratory infections. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Infertility Sinusitis Immotile cilia Chronic sinusitis Respiratory distress Recurrent otitis media Cough Conductive hearing impairment Recurrent lower respiratory tract infections

Rare Symptoms - Less than 30% cases

Chronic otitis media Sepsis Sensorineural hearing impairment Rod-cone dystrophy Immunodeficiency Combined immunodeficiency Severe combined immunodeficiency Absent inner and outer dynein arms Renal insufficiency Intellectual disability Recurrent ear infections Recurrent bronchitis Atelectasis Situs inversus totalis Cognitive impairment Hepatic steatosis Global developmental delay Tricuspid regurgitation Renal dysplasia Renal agenesis Asthma Renal cyst Severe vision loss Obesity Stage 5 chronic kidney disease Overlapping fingers External genital hypoplasia Short stature Abnormality of the liver Polydactyly Hypogonadism Retinal degeneration Short chin Bronchiolitis Micropenis Pachygyria Cerebellar vermis hypoplasia Brain atrophy Deeply set eye Thin upper lip vermilion CNS hypomyelination Lack of T cell function Prominent forehead Cortical gyral simplification Long philtrum Hypoplasia of the corpus callosum Intrauterine growth retardation Wide nasal bridge Visual impairment Low-set ears Growth delay Microcephaly Seizures Leukopenia Congenital agranulocytosis Productive cough Failure to thrive Recurrent Haemophilus influenzae infections Hypoxemia High-frequency hearing impairment Bronchitis Recurrent upper respiratory tract infections Confusion Recurrent sinopulmonary infections Fever Rhinitis Dextrocardia Neonatal respiratory distress Nasal polyposis Chronic rhinitis Chronic lung disease Recurrent pneumonia Abnormal lung morphology Anemia Diarrhea Agranulocytosis Hypoplasia of the thymus Aplasia/Hypoplasia of the thymus Aplasia of the thymus Abnormality of the thymus Granulocytopenia Impaired T cell function Abnormality of neutrophils Cellular immunodeficiency IgA deficiency Weight loss Abnormality of mitochondrial metabolism Recurrent infections Lymphopenia Skin ulcer Dehydration Decreased antibody level in blood Malabsorption Skin rash Recurrent aphthous stomatitis


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