Intrauterine growth retardation, and Meningitis

Diseases related with Intrauterine growth retardation and Meningitis

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

Top matches:

Medium 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

Medium 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

Adams-Oliver Syndrome (AOS) is a rare disorder characterized by the combination of congenital limb abnormalities and scalp defects, often accompanied by skull ossification defects.

ADAMS-OLIVER SYNDROME Is also known as aplasia cutis congenita with terminal transverse limb defects|congenital scalp defects with distal limb reduction anomalies|congenital scalp defects with distal limb anomalies|aos|absence defect of limbs, scalp, and skull|limb, scalp and skull defects

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME

Other less relevant matches:

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

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

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

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

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

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Meningitis

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Pneumonia Common - Between 50% and 80% cases
Immunodeficiency Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Meningitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Abnormal facial shape Global developmental delay Muscular hypotonia Intellectual disability Premature birth Hepatomegaly Failure to thrive Diarrhea Encephalitis Generalized hypotonia Microcephaly Motor delay Abnormality of the kidney Thrombocytopenia Recurrent infections Recurrent bacterial infections Hypertension Lymphopenia Cerebellar atrophy Vomiting

Rare Symptoms - Less than 30% cases

Combined immunodeficiency Long philtrum Autoimmunity Brain atrophy Gliosis Lactic acidosis Congestive heart failure Retrognathia Thin upper lip vermilion Abnormal pulmonary valve morphology Hearing impairment Ataxia Humoral immunodeficiency Fever Hypertonia Encephalopathy Spondyloepiphyseal dysplasia Dementia Delayed skeletal maturation Recurrent pneumonia Respiratory failure Sinusitis Acidosis Ventricular septal defect Osteopenia Developmental regression Anteverted nares Aciduria Increased serum lactate Pulmonary arterial hypertension Scoliosis Cryptorchidism Anemia Talipes equinovarus Hydrocephalus Hypospadias Patent ductus arteriosus Telangiectasia Decreased testicular size Recurrent urinary tract infections Chronic diarrhea Cognitive impairment Leukopenia Hemiparesis 3-Methylglutaconic aciduria Cataract Decreased antibody level in blood Cirrhosis Cardiomyopathy Brachydactyly Corneal opacity Hyperalaninemia Gastroparesis Microdontia Hip dislocation Platyspondyly Myopia Stroke Short neck Nephrotic syndrome Abnormality of the dentition Depressed nasal bridge Hyperlordosis Proteinuria Bulbous nose Neutropenia Abnormal cerebellum morphology Nephropathy Hypothyroidism Migraine Scarring Abnormality of skin pigmentation Malabsorption Lymphoma Stage 5 chronic kidney disease Waddling gait Headache Renal insufficiency Astigmatism Kyphosis Intellectual disability, moderate Moderate global developmental delay Multifocal seizures Wide nasal bridge Flexion contracture Low-set ears Cerebral cortical neurodegeneration Ethylmalonic aciduria Epilepsia partialis continua Phonic tics Cerebral degeneration Chronic hepatitis Respiratory insufficiency Gastric ulcer Micronodular cirrhosis Microvesicular hepatic steatosis Bile duct proliferation Astrocytosis Gastrointestinal dysmotility Tics Fetal akinesia sequence Tremor Arrhythmia Abnormal aortic valve morphology Flat face Flat occiput Hyperammonemia Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Microretrognathia Intention tremor Interphalangeal joint contracture of finger Oligohydramnios Small for gestational age Inguinal hernia Short philtrum Camptodactyly of finger Wide mouth Intellectual disability, profound Hypertrophic cardiomyopathy Neonatal hypotonia Umbilical hernia Cerebral cortical atrophy Lumbar hyperlordosis Steatorrhea Fine hair Telangiectases of the cheeks Recurrent aphthous stomatitis Recurrent viral infections Abnormality of the gastrointestinal tract Esophagitis Gingivitis Clubbing Bronchiectasis Inflammatory abnormality of the skin Osteoporosis Relative macrocephaly Cheilitis Bone pain Broad forehead High forehead Recurrent respiratory infections Malar flattening Macrocephaly Pain Lateral displacement of the femoral head Nephrosclerosis Anterior pituitary dysgenesis Gastritis Mastoiditis Moyamoya phenomenon Conjunctivitis Recurrent enteroviral infections Enteroviral dermatomyositis syndrome Prostatitis Epididymitis Septic arthritis Panhypogammaglobulinemia Pyoderma Recurrent sinopulmonary infections Chronic otitis media Growth hormone deficiency Skin rash Recurrent bacterial meningitis Chronic oral candidiasis Plethora Choroideremia Recurrent fungal infections Hypoplasia of the thymus Recurrent bronchitis Agammaglobulinemia Severe combined immunodeficiency Bronchitis Premature arteriosclerosis Abnormal immunoglobulin level Abnormal lung morphology Glomerulosclerosis Increased CSF protein Hypermelanotic macule High pitched voice Emphysema Focal segmental glomerulosclerosis Melanocytic nevus Nephritis Glomerulonephritis Epiphyseal dysplasia Chronic kidney disease Glomerulopathy Coarse hair Reduced bone mineral density Azoospermia Hyperlipidemia Atherosclerosis Opacification of the corneal stroma Bone marrow hypocellularity Abnormality of epiphysis morphology Heterotopia Abnormal form of the vertebral bodies Multiple cafe-au-lait spots Protuberant abdomen Abnormal T cell morphology Cellular immunodeficiency Encephalomalacia Increased thyroid-stimulating hormone level Shallow acetabular fossae Steroid-resistant nephrotic syndrome Multiple lentigines Mucopolysacchariduria Hypoplasia of the capital femoral epiphysis Arteriosclerosis Right ventricular cardiomyopathy Dentinogenesis imperfecta Abnormality of the vasculature Subvalvular aortic stenosis Precocious atherosclerosis Cerebral ischemia Villous atrophy Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Transient ischemic attack Severe failure to thrive Peripheral axonal neuropathy Progressive encephalopathy Pulmonary edema Abnormality of the skeletal system Cleft palate Strabismus Biconvex vertebral bodies Irregular femoral epiphysis Noncompaction cardiomyopathy Prominent eyelashes Short digit Narrow nose Hypoplasia of the corpus callosum Irregular vertebral endplates Hip contracture Long palpebral fissure Partial agenesis of the corpus callosum Pleural effusion Eosinophilia Tachypnea Narrow palpebral fissure Finger clinodactyly Ventriculomegaly Atrial septal defect Recurrent otitis media Finger syndactyly Ascites Short distal phalanx of finger Polymicrogyria Cleft upper lip Talipes Toe syndactyly Pulmonic stenosis Leukemia Prominent nasal bridge Syndactyly Abnormal cardiac septum morphology Sparse hair EEG abnormality Cerebellar hypoplasia Alopecia Abnormal heart morphology Abnormality of cardiovascular system morphology Dilatation Microphthalmia Short toe Cardiomegaly Esotropia Hyponatremia Overlapping fingers Aspiration pneumonia Adrenal hypoplasia Shawl scrotum Petechiae Hyperkalemia Adrenal insufficiency Rocker bottom foot Myelodysplasia Microphallus Intracranial hemorrhage Abnormal intestine morphology Hypergonadotropic hypogonadism Hyperpigmentation of the skin Decreased body weight Sepsis Paraplegia Hypoglycemia Gastroesophageal reflux Achalasia Esophageal stricture Eczema Hepatosplenomegaly Underdeveloped nasal alae Short metacarpal Single transverse palmar crease Retinal dystrophy Downturned corners of mouth Tachycardia Lymphadenopathy Postnatal growth retardation Hypogonadism Radial club hand Agenesis of corpus callosum Clinodactyly of the 5th finger Clinodactyly Splenomegaly Intellectual disability, mild Edema Fatigue Downslanted palpebral fissures Hypoplastic spleen Gastrointestinal hemorrhage Nail dysplasia Abnormality of visual evoked potentials Elevated hepatic transaminase Coma Neurodegeneration Hepatic failure Abnormality of movement Generalized tonic-clonic seizures Abnormality of the liver Paralysis Abnormality of the eye Rigidity Memory impairment Jaundice Hyperactivity Myoclonus Areflexia Visual loss Cerebral atrophy Blindness Dysphagia Optic atrophy Focal-onset seizure Epileptic encephalopathy Feeding difficulties Paraparesis Celiac disease Progressive spasticity Spastic diplegia Akinesia Slurred speech Abnormality of vision Intellectual disability, progressive Spastic paraparesis Cerebral visual impairment Neuronal loss in central nervous system Decreased liver function Hepatic fibrosis Clumsiness Cholestasis Choreoathetosis Progressive neurologic deterioration Status epilepticus Hepatitis Generalized-onset seizure Peripheral neuropathy Spasticity Tetralogy of Fallot Supernumerary nipple Pulmonary artery stenosis Central hypotonia Oligodactyly Aplasia cutis congenita Cutaneous finger syndactyly Aplasia/Hypoplasia of the skin Cortical dysplasia Hypoplastic left heart Cutis marmorata Calvarial skull defect Portal hypertension Abnormality of the metacarpal bones Bicuspid aortic valve Aortic valve stenosis Pachygyria Encephalocele Split hand Small nail Coarctation of aorta Double outlet right ventricle Arteriovenous malformation Micrognathia Absent hand Aplasia cutis congenita on trunk or limbs Aplasia cutis congenita over posterior parietal area Acrania Imperforate hymen Periventricular cysts Cutis marmorata telangiectatica congenita Absent toe Venous malformation Absent fingernail Aplastic/hypoplastic toenail Abnormality of the lower limb Chylothorax Aplasia cutis congenita of scalp Periventricular leukomalacia Porencephalic cyst Congenital hepatic fibrosis Esophageal varix Abnormality of the upper limb Pulmonary artery atresia Hypoplastic fingernail Enteroviral hepatitis


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