Growth delay, and Bronchiectasis

Diseases related with Growth delay and Bronchiectasis

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

Top matches:

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

Combined immunodeficiency due to MALT1 deficiency is a rare, genetic form of primary immunodeficiency characterized by growth retardation, early recurrent pulmonary infections leading to bronchiectasis, inflammatory gastrointestinal disease, and other symptoms, such as rash, dermatitis, skin infections.

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Immunodeficiency
  • Delayed skeletal maturation
  • Pneumonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO MALT1 DEFICIENCY

CILIARY DYSKINESIA, PRIMARY, 11; CILD11 Is also known as ciliary dyskinesia, primary, 11, without situs inversus

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about CILIARY DYSKINESIA, PRIMARY, 11; CILD11

Other less relevant matches:

IMD36 is a primary immunodeficiency with a highly heterogeneous clinical phenotype, characterized primarily by recurrent respiratory tract infections, lymphoproliferation, and antibody deficiency. Other features include growth retardation, mild neurodevelopmental delay, and autoimmunity. The major complication is development of B-cell lymphoma (Elkaim et al., 2016).

Related symptoms:

  • Growth delay
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent respiratory infections


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 36; IMD36

Immunodeficiency-55 is an autosomal recessive primary immunodeficiency characterized by intrauterine growth retardation, natural killer (NK) cell deficiency, and chronic neutropenia. Most patients also have postnatal growth retardation. Other clinical manifestations include mild facial dysmorphism, dry or eczematous skin, and recurrent infections with both viruses and bacteria. The disorder appears to result from a defect in DNA replication causing blockade of immune cell differentiation in the bone marrow, particularly affecting NK cells (summary by Cottineau et al., 2017).

COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY Is also known as cid due to gins1 deficiency|combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia|combined immunodeficiency with intrauterine growth retardation-nk cell deficiency-neutropenia

Related symptoms:

  • Growth delay
  • Abnormal facial shape
  • Anemia
  • Intrauterine growth retardation
  • Blindness


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO GINS1 DEFICIENCY

Mutations in the NFKBIA gene result in functional impairment of NFKB1 (OMIM ), a master transcription factor required for normal activation of immune responses. Interruption of NFKB1 signaling results in decreased production of proinflammatory cytokines and certain interferons, rendering patients susceptible to infection (McDonald et al., 2007).

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Delayed speech and language development
  • Frontal bossing
  • Diarrhea


SOURCES: OMIM MESH MENDELIAN

More info about ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH T-CELL IMMUNODEFICIENCY, AUTOSOMAL DOMINANT

Medium match ICF SYNDROME

The Immunodeficiency, Centromeric region instability, Facial anomalies syndrome (ICF) is a rare autosomal recessive disease characterized by immunodeficiency, although B cells are present, and by characteristic rearrangements in the vicinity of the centromeres (the juxtacentromeric heterochromatin) of chromosomes 1 and 16 and sometimes 9.

ICF SYNDROME Is also known as centromeric instability, immunodeficiency syndrome|immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16|ciid|immunodeficiency-centromeric instability-facial anomalies syndrome|immunodeficiency syndrome, variable

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about ICF SYNDROME

Medium match PGM3-CDG

PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Medium match CYSTIC FIBROSIS

Cystic fibrosis (CF) is a genetic disorder characterized by the production of sweat with a high salt content and mucus secretions with an abnormal viscosity.

CYSTIC FIBROSIS Is also known as mucoviscidosis|cf

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Pain
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about CYSTIC FIBROSIS

Medium match RIN2 SYNDROME

RIN2 syndrome, formerly known as macrocephaly, alopecia, cutis laxa and scoliosis (MACS) syndrome, is a very rare inherited connective tissue disorder characterized by macrocephaly, sparse scalp hair, soft-redundant and hyperextensible skin, joint hypermobility, and scoliosis. Patients have progressive facial coarsening with downslanted palpebral fissures, upper eyelid fullness/infraorbital folds, thick/everted vermillion, gingival overgrowth and abnormal position of the teeth. Rarer manifestations such as abnormal high-pitched voice, bronchiectasis, hypergonadotropic hypergonadism and brachydactyly (see this term) have also been reported.

RIN2 SYNDROME Is also known as rin2 deficiency|tall forehead, sparse hair, skin hyperextensibility, and scoliosis|tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome|macrocephaly-alopecia-cutis laxa-scoliosis syndrome|macs syndrome|macrocephaly, alopecia, cutis laxa, a

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about RIN2 SYNDROME

Top 5 symptoms//phenotypes associated to Growth delay and Bronchiectasis

Symptoms // Phenotype % cases
Respiratory tract infection Common - Between 50% and 80% cases
Recurrent respiratory infections Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Recurrent infections Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Bronchiectasis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Diarrhea Abnormal facial shape Failure to thrive Lymphopenia Sinusitis Inflammatory abnormality of the skin Intellectual disability Recurrent pneumonia Productive cough Decreased antibody level in blood Anemia Decreased body weight Dyskinesia Cough Pneumonia

Rare Symptoms - Less than 30% cases

Dry skin Allergy Respiratory failure Hemolytic anemia Scoliosis Chronic diarrhea Ichthyosis Atopic dermatitis Neutropenia Eczema Abnormal lung morphology Recurrent skin infections Bronchitis Lymphadenopathy Combined immunodeficiency Malnutrition Malabsorption Umbilical hernia Sparse hair Sparse scalp hair Macrocephaly Agammaglobulinemia Cryptorchidism Lymphoma Global developmental delay Cognitive impairment Rhinorrhea Asthma Dilatation Gastroesophageal reflux Abnormal central microtubular pair morphology of respiratory motile cilia Chronic rhinitis Clubbing Respiratory distress Rhinitis Ciliary dyskinesia Recurrent bacterial infections Otitis media Arthritis Exercise intolerance Brachydactyly Osteoporosis High palate Nasal obstruction Male infertility Pain Steatorrhea Exocrine pancreatic insufficiency Wheezing Hemoptysis Neoplasm Neoplasm of the pancreas Chronic lung disease Chronic obstructive pulmonary disease Cor pulmonale Abnormality of the pancreas Biliary cirrhosis Ileus Pulmonary fibrosis Portal hypertension Emphysema Pancreatitis Delayed puberty Scarring Nausea Abnormality of the liver Cirrhosis Abdominal distention Dehydration Insulin resistance Nephrocalcinosis Carcinoma Hypertension Azoospermia Tachypnea Elevated hepatic transaminase Abdominal pain Diabetes mellitus Vomiting Hypercalciuria Intestinal obstruction Hepatomegaly Infertility Hernia Pneumothorax Increased susceptibility to fractures Single transverse palmar crease Overgrowth Narrow forehead High myopia Thick lower lip vermilion Gingival overgrowth Sparse and thin eyebrow Hypergonadotropic hypogonadism Cutis laxa Hyperextensible skin Redundant skin Aortic aneurysm Thick vermilion border Premature ovarian insufficiency High pitched voice Prolonged bleeding time Abnormality of the sternum Palpebral edema Abnormality of the vasculature Generalized osteoporosis Eclabion Urethral stenosis Irregular dentition Abnormal lip morphology Upper eyelid edema Everted lower lip vermilion Hirsutism Rectal prolapse Cellular metachromasia Nasal polyposis Chronic infection Chronic pancreatitis Secretory diarrhea Obstructive lung disease Pancreatic adenocarcinoma Meconium ileus Recurrent bronchopulmonary infections Obstructive azoospermia Absent vas deferens Elevated sweat chloride Biliary tract obstruction Echogenic fetal bowel Bruising susceptibility Microscopic nephrocalcinosis Muscular hypotonia Downslanted palpebral fissures Long philtrum Autoimmune neutropenia Alopecia Hypogonadism Retrognathia Coarse facial features Pes planus Joint laxity Joint hypermobility Cortical myoclonus Chronic bronchitis Vasculitis in the skin Osteosarcoma Blindness Glaucoma Hypothyroidism Postnatal growth retardation Abnormal intestine morphology Myelodysplasia Erythroderma Autoimmune hemolytic anemia Severe intrauterine growth retardation Protein-losing enteropathy Enlarged tonsils Folliculitis Erythroid dysplasia Delayed speech and language development Frontal bossing Hepatosplenomegaly Hypodontia Ectodermal dysplasia Fine hair Hypohidrosis Anhidrosis Intrauterine growth retardation Chronic lymphatic leukemia Heat intolerance Cheilitis Chronic sinusitis Nonmotile sperm Delayed skeletal maturation Meningitis Gingivitis Esophagitis Abnormality of the gastrointestinal tract Recurrent viral infections Recurrent aphthous stomatitis Gastritis Mastoiditis Recurrent sinopulmonary infections Situs inversus totalis Neonatal respiratory distress Recurrent sinusitis Abnormal ciliary motility Splenomegaly Autoimmunity Recurrent upper respiratory tract infections Inflammation of the large intestine Neurodevelopmental delay B-cell lymphoma Leukocytosis Conical tooth Membranoproliferative glomerulonephritis Hyporeflexia Abnormality of neutrophils Impaired T cell function Seizures Generalized hypotonia Hearing impairment Ataxia Sensorineural hearing impairment Dysarthria Abnormality of the skeletal system Myoclonus Abnormality of chromosome stability Conductive hearing impairment Abnormality of the nervous system Erythema Sensory impairment Vasculitis Narrow palpebral fissure Leukopenia Glomerulonephritis Severe combined immunodeficiency Allergic rhinitis Decrease in T cell count Cellular immunodeficiency Concave nasal ridge Epicanthus Lymphocytosis Anhidrotic ectodermal dysplasia Recurrent infection of the gastrointestinal tract Periorbital wrinkles Aplasia of the sweat glands Defective production of NFKB1-dependent cytokines Hypertelorism Micrognathia Low-set ears Depressed nasal bridge Anteverted nares Communicating hydrocephalus Short nose Malar flattening Hypospadias High forehead Flat face Neurodegeneration Macroglossia Sepsis Protruding tongue Shawl scrotum Infra-orbital fold


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