Growth delay, and Meningitis

Diseases related with Growth delay and Meningitis

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


Top matches:

Low match FACIAL DYSMORPHISM-IMMUNODEFICIENCY-LIVEDO-SHORT STATURE SYNDROME


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

Low match COMBINED IMMUNODEFICIENCY DUE TO MALT1 DEFICIENCY


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

Low match SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1


SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1 Is also known as xscid|severe combined immunodeficiency, x-linked, t cell-negative, b cell-positive, nk cell-negative|imd4|scidx|immunodeficiency 4|scid, x-linked

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY, X-LINKED; SCIDX1

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Other less relevant matches:

Low match ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; IGHD3


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

Low match HEREDITARY FRUCTOSE INTOLERANCE


Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.

HEREDITARY FRUCTOSE INTOLERANCE Is also known as aldolase b deficiency|hereditary fructose-1-phosphate aldolase deficiency|hereditary fructosemia|fructose-1,6-bisphosphate aldolase b deficiency|fructose-1-phosphate aldolase deficiency|fructosemia|aldob deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Failure to thrive
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FRUCTOSE INTOLERANCE

Low match CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match MIRAGE SYNDROME


MIRAGE syndrome is a form of syndromic adrenal hypoplasia, characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. The condition is often fatal within the first decade of life, usually as a result of invasive infection (Narumi et al., 2016).

MIRAGE SYNDROME Is also known as myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome|myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome|myelodysplasia, infection, restriction of gr

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Cryptorchidism


SOURCES: OMIM ORPHANET MENDELIAN

More info about MIRAGE SYNDROME

Low match X-LINKED AGAMMAGLOBULINEMIA


X-linked agammaglobulinemia (XLA) is a clinically variable form of isolated agammaglobulinemia, an inherited immunodeficiency disorder (see this term), and is characterized in affected males by recurrent bacterial infections during infancy.

X-LINKED AGAMMAGLOBULINEMIA Is also known as imd1|bruton-type agammaglobulinemia|bruton type agammaglobulinemia|agammaglobulinemia, x-linked, type 1|immunodeficiency 1|btk-deficiency|agmx1

Related symptoms:

  • Short stature
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED AGAMMAGLOBULINEMIA

Low match ROIFMAN SYNDROME


Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Low match ATELOSTEOGENESIS, TYPE I; AO1


Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

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

Symptoms // Phenotype % cases
Pneumonia Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Recurrent bacterial infections Intellectual disability Failure to thrive Recurrent urinary tract infections Sinusitis Hepatomegaly Recurrent infections Diarrhea Recurrent pneumonia Hepatosplenomegaly Vomiting Skin rash Decreased antibody level in blood Seizures Premature birth Lymphopenia Pain Macrocephaly Fatigue Chronic diarrhea Hearing impairment Brachydactyly Anemia

Rare Symptoms - Less than 30% cases


Hypoglycemia Sepsis Abdominal pain Hypospadias Enteroviral hepatitis Arthritis Prostatitis Feeding difficulties Gastroesophageal reflux Cryptorchidism Thrombocytopenia Sensorineural hearing impairment Skeletal dysplasia Proptosis Splenomegaly Edema Frontal bossing Fever Lymphadenopathy Joint dislocation Nausea Spondyloepiphyseal dysplasia Weight loss Short metacarpal Scoliosis Septic arthritis Intrauterine growth retardation Talipes equinovarus Epididymitis Enteroviral dermatomyositis syndrome Pyoderma Humoral immunodeficiency Clubbing Delayed speech and language development Bronchitis Delayed skeletal maturation Depressivity Otitis media Telangiectasia Autoimmunity Agammaglobulinemia Generalized hypotonia Malar flattening Recurrent respiratory infections Conjunctivitis Encephalitis Chronic otitis media Microcephaly Hypopigmented skin patches Finger clinodactyly Narrow palpebral fissure Tachypnea Eosinophilia Pleural effusion Hypocalcemia Partial agenesis of the corpus callosum Long palpebral fissure Skin ulcer Hip contracture Irregular vertebral endplates Narrow nose Abnormal lung morphology Recurrent otitis media Hepatitis Malabsorption Pulmonary edema Neutropenia Short toe Single transverse palmar crease Cardiomegaly Cor pulmonale Ventricular septal defect Intellectual disability, mild Downslanted palpebral fissures Muscular hypotonia Lymph node hypoplasia Long philtrum Clinodactyly Abnormality of the tonsils Recurrent cutaneous abscess formation Thymoma Clinodactyly of the 5th finger Abnormality of the lymphatic system Myelopathy Agenesis of corpus callosum Eczema Glossoptosis Cellulitis Hypogonadism Osteomyelitis Rheumatoid arthritis Thin upper lip vermilion Postnatal growth retardation Tachycardia Downturned corners of mouth Retinal dystrophy Anteverted nares Recurrent skin infections Underdeveloped nasal alae Short digit Constipation Prominent eyelashes Hyperkinesis Progressive spasticity Tibial bowing Flat occiput Oral-pharyngeal dysphagia Elbow dislocation Short metatarsal Disproportionate short-limb short stature Short humerus Drooling Abnormality of the outer ear Absence seizures Muscle stiffness Aspiration Rhizomelia Atonic seizures Loss of speech Lumbar hyperlordosis Long clavicles Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Fibular aplasia Bell-shaped thorax Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Encephalocele Limb undergrowth Noncompaction cardiomyopathy Depressed nasal bridge Short nose Respiratory distress Short neck Abnormality of the skeletal system Gait disturbance Hyperreflexia Flexion contracture Severe short stature Low-set ears Spasticity Cleft palate Micrognathia Hypertelorism Biconvex vertebral bodies Irregular femoral epiphysis Midface retrusion Brachycephaly Generalized myoclonic seizures Autistic behavior Abdominal distention Inability to walk Talipes Poor speech Narrow chest Generalized tonic-clonic seizures Respiratory tract infection Respiratory failure Hyperlordosis Anxiety Deeply set eye Macrotia Polyhydramnios Mandibular prognathia Autism Retinopathy Patent ductus arteriosus Dementia Shock Lethargy Carious teeth Lactic acidosis Cirrhosis Hepatic failure Hepatic steatosis Nephropathy Metabolic acidosis Coma Gastrointestinal hemorrhage Aciduria Decreased liver function Hyperbilirubinemia Hypokalemia Irritability Malnutrition Hypophosphatemia Glycosuria Prolonged neonatal jaundice Hyperuricemia Renal tubular acidosis Neonatal hypoglycemia Ketosis Recurrent hypoglycemia Hyperphosphaturia Proximal tubulopathy Hemophagocytosis Hypersomnia Disseminated intravascular coagulation Abnormality of the liver Elevated hepatic transaminase Proximal renal tubular acidosis Cheilitis High forehead Broad forehead Bone pain Relative macrocephaly Telangiectases of the cheeks Osteoporosis Inflammatory abnormality of the skin Bronchiectasis Gingivitis Esophagitis Abnormality of the gastrointestinal tract Recurrent viral infections Recurrent aphthous stomatitis Gastritis Mastoiditis Jaundice Combined immunodeficiency Severe combined immunodeficiency Recurrent bronchitis Hypoplasia of the thymus Recurrent fungal infections Choroideremia Plethora Chronic oral candidiasis Recurrent bacterial meningitis Growth hormone deficiency Recurrent sinopulmonary infections Panhypogammaglobulinemia Recurrent enteroviral infections Acidosis Hypergalactosemia Hyperuricosuria Rod-cone dystrophy Petechiae Paraplegia Decreased testicular size Decreased body weight Hyperpigmentation of the skin Hypergonadotropic hypogonadism Leukopenia Abnormal intestine morphology Intracranial hemorrhage Myelodysplasia Hyponatremia Rocker bottom foot Adrenal insufficiency Hyperkalemia Shawl scrotum Motor delay Adrenal hypoplasia Aspiration pneumonia Overlapping fingers Achalasia Microphallus Esophageal stricture Radial club hand Hypoplastic spleen Ataxia Neoplasm Myopathy Dilatation Encephalopathy Alopecia Hydrocephalus Abnormal granulocyte morphology Fructose intolerance Reduced bone mineral density Bicarbonaturia Transient aminoaciduria Visual impairment Blindness Arthralgia EEG abnormality Myalgia Papule Nausea and vomiting Migraine Overgrowth Vasculitis Purpura Increased intracranial pressure Urticaria Retrobulbar optic neuritis Leukocytosis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Abnormal joint morphology Arthropathy Amyloidosis Uveitis Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Elevated C-reactive protein level Inflammatory abnormality of the eye Abnormality of neutrophils Pseudopapilledema Distal tapering femur



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Dolichocephaly, related diseases and genetic alterations Tremor and Pulmonary hypoplasia, related diseases and genetic alterations Depressed nasal bridge and Ectodermal dysplasia, related diseases and genetic alterations Edema and Diarrhea, related diseases and genetic alterations Flexion contracture and Osteoporosis, related diseases and genetic alterations

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