Growth delay, and Otitis media

Diseases related with Growth delay and Otitis media

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

Top matches:

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

MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9 Is also known as hyaluronidase deficiency|mps ix

Related symptoms:

  • Short stature
  • Scoliosis
  • Cleft palate
  • Pain
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IX; MPS9

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:

T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY Is also known as scid, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive|t-b+ scid due to il-7ralpha deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Hepatomegaly
  • Fever
  • Diarrhea


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about T-B+ SEVERE COMBINED IMMUNODEFICIENCY DUE TO IL-7RALPHA DEFICIENCY

Lamellar ichthyosis (LI) is a keratinization disorder characterized by the presence of large scales all over the body without significant erythroderma.

LAMELLAR ICHTHYOSIS Is also known as congenital lamellar ichthyosis|li|classic lamellar ichthyosis

Related symptoms:

  • Short stature
  • Cognitive impairment
  • Abnormality of the dentition
  • Renal insufficiency
  • Recurrent respiratory infections


SOURCES: ORPHANET MENDELIAN

More info about LAMELLAR ICHTHYOSIS

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

Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1|lymphocyte function-associated antigen 1 immunodeficiency|lfa1 immunodeficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Intellectual disability, severe
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3 Is also known as hypogammaglobulinemia and isolated growth hormone deficiency, x-linked|ighd iii|fleisher syndrome|agammaglobulinemia and isolated growth hormone deficiency, x-linked|growth hormone deficiency with hypogammaglobulinemia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Diarrhea
  • Immunodeficiency
  • Delayed skeletal maturation


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3

Congenital disorder of glycosylation type IIc (CDG2C) is an autosomal recessive disorder characterized by moderate to severe psychomotor retardation, mild dysmorphism, and impaired neutrophil motility. It is a member of a group of disorders with a defect in the processing of protein-bound glycans. For a general overview of congenital disorders of glycosylation (CDGs), see CDG1A (OMIM ) and CDG2A (OMIM ).The neutrophil defect in CDG2C has been referred to as 'leukocyte adhesion deficiency type II' (LAD2), which is a manifestation of the disorder; there are no cases of 'primary' LAD II (Frydman, 1996).Etzioni and Harlan (1999) provided a comprehensive review of both LAD1 (OMIM ) and LAD2. While the functional neutrophil studies are similar in the 2 LADs, the clinical course is milder in LAD2. Furthermore, patients with LAD2 present other abnormal features, such as growth and mental retardation, which are related to the primary defect in fucose metabolism. Delayed separation of the umbilical cord occurs in LAD1.

CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C Is also known as cdgiic|rhs|lad2|cdg iic|rambam-hasharon syndrome|leukocyte adhesion deficiency, type ii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIC; CDG2C

Classic maple syrup urine disease (classic MSUD) is the most severe and probably common form of MSUD (see this term) characterized by a maple syrup odor in the cerumen at birth, poor feeding, lethargy and focal dystonia, followed by progressive encephalopathy and central respiratory failure if untreated.

CLASSIC MAPLE SYRUP URINE DISEASE Is also known as keto acid decarboxylase deficiency|classic branched-chain ketoaciduria|classic branched-chain alpha-ketoacid dehydrogenase deficiency|classic msud|bckd deficiency|classic bckd deficiency|branched-chain ketoaciduria|branched-chain alpha-keto acid dehydroge

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLASSIC MAPLE SYRUP URINE DISEASE

Top 5 symptoms//phenotypes associated to Growth delay and Otitis media

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Recurrent otitis media Uncommon - Between 30% and 50% cases
Recurrent respiratory infections Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Pneumonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Generalized hypotonia Recurrent bacterial infections

Rare Symptoms - Less than 30% cases

Failure to thrive Hearing impairment Diarrhea Renal insufficiency Anxiety Chronic otitis media Periodontitis Muscular hypotonia Leukocytosis Seizures Cellulitis Bronchiolitis Intellectual disability, severe Immunodeficiency Fever Cognitive impairment Sinusitis Cough Respiratory tract infection Respiratory distress Septic arthritis Epididymitis Prostatitis Enteroviral dermatomyositis syndrome Recurrent enteroviral infections Enteroviral hepatitis Increased intracranial pressure Microcephaly Abnormal facial shape Cerebral palsy Pancreatitis Hallucinations Spastic tetraplegia Brachydactyly Recurrent infections Abnormality of metabolism/homeostasis Severe short stature Panhypogammaglobulinemia Recurrent sinopulmonary infections Pyoderma Decreased antibody level in blood Severe periodontitis Abnormal granulocyte morphology Increased level of hippuric acid in urine Recurrent staphylococcal infections Cerebral edema Episodic ataxia Recurrent gram-negative bacterial infections Delayed skeletal maturation Growth hormone deficiency Encephalitis Recurrent urinary tract infections Ketonuria Meningitis Ketoacidosis Ketosis Opisthotonus Impulsivity Growth abnormality Conjunctivitis Cerebral cortical atrophy Autism Coma Acidosis Osteoporosis Hyperactivity Hepatitis Tetraplegia Respiratory failure Postural instability Weight loss Hypoglycemia Depressivity Feeding difficulties in infancy Irritability Lethargy Ophthalmoplegia Nausea and vomiting Nausea Lactic acidosis Hepatic failure Encephalopathy Headache Coarse facial features Widow's peak Severe global developmental delay Bulbous nose Short foot Febrile seizures Intellectual disability, progressive Obsessive-compulsive behavior Mild global developmental delay Echolalia Rectal abscess Hypertonia Neutrophilia Abnormality of the integument Reduction of neutrophil motility Ataxia Spasticity Feeding difficulties Hypertension Vomiting Decreased platelet glycoprotein IIb-IIIa Confusion Recurrent bacterial skin infections Splenomegaly Rhinitis Nasal obstruction Rhinorrhea Chronic rhinitis Productive cough Abnormal ciliary motility Abnormal central microtubular pair morphology of respiratory motile cilia Hepatomegaly Gastroesophageal reflux Ciliary dyskinesia Hepatosplenomegaly Skin rash Lymphadenopathy Eczema Pancytopenia Inflammatory abnormality of the skin Increased body weight Severe combined immunodeficiency Recurrent sinusitis Neonatal respiratory distress Oral ulcer Abnormality of the skin Neutropenia Congenital neutropenia Scoliosis Cleft palate Pain Depressed nasal bridge Kyphosis Bifid uvula Submucous cleft hard palate Exercise intolerance Heparan sulfate excretion in urine Abnormality of the acetabulum Foot pain Keratan sulfate excretion in urine Dyskinesia Decreased body weight Bronchiectasis Situs inversus totalis Decrease in T cell count Recurrent opportunistic infections Abnormal thrombocyte morphology External genital hypoplasia Retinal degeneration Stage 5 chronic kidney disease Hepatic steatosis Renal cyst Asthma Renal agenesis Renal dysplasia Tricuspid regurgitation Arthritis Conductive hearing impairment Bruising susceptibility Abnormal bleeding Epistaxis Recurrent skin infections Rheumatoid arthritis Gingivitis Peritonitis Juvenile rheumatoid arthritis Abnormality of the liver Polydactyly Failure to thrive secondary to recurrent infections Sepsis Abnormality of the dentition Hyperkeratosis Sparse hair Pruritus Hypotrichosis Dry skin Ichthyosis Everted lower lip vermilion Dehydration Hypogonadism Abnormality of the nail Ectropion Erythroderma Aplasia/Hypoplasia of the eyebrow Gangrene Lack of skin elasticity Abnormality of the helix Obesity Rod-cone dystrophy Elevated plasma branched chain amino acids


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Atopic dermatitis, related diseases and genetic alterations Neuroblastoma and Acute leukemia, related diseases and genetic alterations Wide nasal bridge and Facial asymmetry, related diseases and genetic alterations Brachydactyly and Coarctation of aorta, related diseases and genetic alterations Obesity and Systemic lupus erythematosus, related diseases and genetic alterations