Growth delay, and Respiratory tract infection

Diseases related with Growth delay and Respiratory tract infection

In the following list you will find some of the most common rare diseases related to Growth delay and Respiratory tract infection that can help you solving undiagnosed cases.

Top matches:

SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME Is also known as hbs-beta-thalassemia syndrome

Related symptoms:

  • Pain
  • Anemia
  • Hypertension
  • Pneumonia
  • Jaundice


SOURCES: ORPHANET MENDELIAN

More info about SICKLE CELL-BETA-THALASSEMIA DISEASE SYNDROME

Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency is a rare, genetic, primary immunodeficiency disorder characterized by early-onset, recurrent, severe bacterial infections, granulopoiesis maturation arrest at the promyelocyte/myelocyte stage and markedly reduced absolute neutrophil counts, resulting from recessively inherited mutations in the JAGN1 gene. Mild facial dysmorphism (i.e. triangular face), short stature, failure to thrive, hypothyroidism, developmental delay, pancreatic insufficiency and coractation of aorta, as well as bone and urogenital abnormalities, may also be associated.

Related symptoms:

  • Short stature
  • Failure to thrive
  • Recurrent respiratory infections
  • Neutropenia
  • Recurrent otitis media


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SEVERE CONGENITAL NEUTROPENIA DUE TO JAGN1 DEFICIENCY

Pulmonary alveolar proteinosis (PAP) is a rare lung disorder in which surfactant-derived lipoproteins accumulate excessively within pulmonary alveoli, causing severe respiratory distress. Three forms of PAP have been described: hereditary (usually congenital), secondary, and acquired. Hereditary PAP is associated with mutations in the CSF2RA gene or in genes encoding surfactant proteins. Secondary PAP develops in conditions in which there are reduced numbers or functional impairment of alveolar macrophages and is associated with inhalation of inorganic dust (silica) or toxic fumes, hematologic malignancies, pharmacologic immunosuppression, infections, and impaired CSF2RB (OMIM ) expression. Acquired PAP (OMIM ), the most common form, usually occurs in adults and is caused by neutralizing autoantibodies to CSF2 (OMIM ) (Martinez-Moczygemba et al., 2008).For a general phenotypic description and a discussion of genetic heterogeneity of congenital pulmonary surfactant metabolism dysfunction, see SMDP1 (OMIM ).

SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4 Is also known as pulmonary alveolar proteinosis, congenital, 4|csf2ra deficiency|pap due to csf2ra deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Respiratory insufficiency
  • Respiratory distress
  • Pneumonia


SOURCES: MESH OMIM MENDELIAN

More info about SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 4; SMDP4

Other less relevant matches:

Spondylocostal dysostosis is a term given to a heterogeneous group of disorders characterized by abnormal vertebral segmentation. For a general phenotypic description and a discussion of genetic heterogeneity of the disorder, see SCDO1 (OMIM ).

Related symptoms:

  • Short neck
  • Pneumonia
  • Recurrent respiratory infections
  • Respiratory failure
  • Vertebral segmentation defect


SOURCES: OMIM MENDELIAN

More info about SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE; SCDO2

Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer.

FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME Is also known as fils syndrome

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Macrocephaly
  • Malar flattening


SOURCES: ORPHANET OMIM MENDELIAN

More info about FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME

Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infections is a rare genetic disorder characterized by lymphadenopathy and/or splenomegaly and recurrent infections due to herpes viruses.

AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS Is also known as caspase 8 deficiency syndrome|autoimmune lymphoproliferative syndrome, type iib|alps2b|ceds|alps with recurrent viral infections

Related symptoms:

  • Short stature
  • Failure to thrive
  • Splenomegaly
  • Immunodeficiency
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME WITH RECURRENT VIRAL INFECTIONS

Primary immunodeficiency syndrome due to p14 deficiency is characterised by short stature, hypopigmentation, coarse facies and frequent bronchopulmonary Streptococcus pneumoniae infections.

PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY Is also known as primary immunodeficiency syndrome with short stature

Related symptoms:

  • Short stature
  • Immunodeficiency
  • Coarse facial features
  • Neutropenia
  • Hypopigmentation of the skin


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PRIMARY IMMUNODEFICIENCY SYNDROME DUE TO P14 DEFICIENCY

CILIARY DYSKINESIA, PRIMARY, 12; CILD12 Is also known as ciliary dyskinesia, primary, 12, without situs inversus

Related symptoms:

  • Short stature
  • Recurrent respiratory infections
  • Respiratory tract infection
  • Cough
  • Dyskinesia


SOURCES: MESH OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 12; CILD12

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Congestive heart failure
  • Pneumonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

IL21-RELATED INFANTILE INFLAMMATORY BOWEL DISEASE Is also known as il21-related infantile ibd|il21 deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Diarrhea
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM ORPHANET MENDELIAN

More info about IL21-RELATED INFANTILE INFLAMMATORY BOWEL DISEASE

Top 5 symptoms//phenotypes associated to Growth delay and Respiratory tract infection

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Pneumonia Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
Immunodeficiency Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Respiratory tract infection. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pain

Rare Symptoms - Less than 30% cases

Respiratory failure Neutropenia Chronic diarrhea Nasal obstruction Intellectual disability Recurrent bronchopulmonary infections Abnormal central microtubular pair morphology of respiratory motile cilia Nonmotile sperm Productive cough Chronic rhinitis Rhinorrhea Rhinitis Chronic sinusitis Dyskinesia Ciliary dyskinesia Exercise intolerance Joint stiffness Sinusitis Bronchiectasis Decreased body weight Cough Congestive heart failure Pathologic fracture Platyspondyly Heberden's node Severe failure to thrive Malnutrition Inflammation of the large intestine Clubbing Hepatitis Decreased antibody level in blood Erythema Diarrhea Schmorl's node Knee osteoarthritis Joint hypermobility Morphological abnormality of the central nervous system Hip pain Hip osteoarthritis Beaking of vertebral bodies Exostoses Irregular vertebral endplates Arthropathy IgM deficiency Osteoarthritis Hip dysplasia Partial albinism Decreased T cell activation Hypopigmentation of hair Tachycardia Short neck Crackles Alveolar proteinosis Foam cells Hypoxemia Restrictive ventilatory defect Tachypnea Abnormal lung morphology Respiratory distress Disproportionate short-trunk short stature Respiratory insufficiency Congenital neutropenia Recurrent bacterial infections Recurrent otitis media Heart murmur Delayed puberty Stroke Jaundice Hypertension Vertebral segmentation defect Rib fusion Hypopigmentation of the skin Relative macrocephaly Coarse facial features Defective B cell activation Anemia Recurrent sinopulmonary infections Eczema Asthma Lymphadenopathy Splenomegaly Telangiectases of the cheeks Meningitis Restrictive deficit on pulmonary function testing Bone pain Telangiectasia Broad forehead Autoimmunity High forehead Recurrent infections Malar flattening Macrocephaly Abnormal facial shape Recurrent aphthous stomatitis


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