Congenital Onset Causes & Reasons

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Congenital Onset Symptom Checker: Possible causes include Arterial Tortuosity Syndrome. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

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Possible Causes

Arterial Tortuosity Syndrome

[…] diaphragmatic hernia 0000776 Congenital onset Symptoms present at birth 0003577 Convex nasal ridge Beaked nose Beaklike protrusion Hooked nose Polly beak nasal deformity [rarediseases.info.nih.gov]

She had a history of congenital rectal prolapse, colonic diverticulosis, and iron deficiency anemia. [neurology.org]

TAAD has a highly variable age of onset and presentation, and may involve additional features such as congenital heart defects and other features of connective tissue disease [mayomedicallaboratories.com]

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Erythropoietic Porphyria

These clinical features are suggestive of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations. [ncbi.nlm.nih.gov]

A rare case of puberty onset congenital erythropoietic porphyria with ophthalmological manifestations. [meajo.org]

In this Kashmiri boy the disease onset was around puberty. Key words : Congenital Erythropoietic Porphyria, Porphyria Profile, Photosensitivity. [tmg.org.rs]

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Primary Hypertrophic Osteoarthropathy

Osteoporosis [25] Rheumatoid arthritis [31] Ankylosing spondylitis [32] En coup de sabre (a form of localized scleroderma) [33] In certain instances, several years after the onset [emedicine.com]

Its onset occurs later, without familial or hereditary occurrence, and its bone changes are more acute and painful. Radiographic findings present certain differences. [sboportal.org.br]

[…] pachydermoperiostosis or primary hypertropic osteoarthropathy, diseases generally known to result in secondary hypertrophic osteoarthropathy (Crohn disease, myelofibrosis, and congenital [emedicine.com]

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Shaheen Syndrome

5 21 737 c BLC018 Bile Acid Synthesis Defect, Congenital, 6 21 738 EPD032 Epidermolysis Bullosa, Late-Onset Localized Junctional, with Mental Retardation 15 739 c SLV006 [malacards.org]

AUTOSOMAL RECESSIVE, WITH OPTIC ATROPHY AND MENTAL RETARDATION Ataxia-Microcephaly-Cataract Syndrome Atonic-Astatic Syndrome of Foerster Aural Atresia, Multiple Congenital [rgd.mcw.edu]

Type Xiv 23 536 c DRR009 Diarrhea 6 23 537 c OST138 Osteogenesis Imperfecta, Type Xvii 23 538 c OST169 Osteogenesis Imperfecta, Type Xviii 23 539 c PLT022 Pili Torti, Early-Onset [malacards.org]

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Dysequilibrium Syndrome

Heritability: Autosomal recessive inheritance Clinical Modifiers: Congenital onset, Nonprogressive AKA: cerebellar ataxia and mental retardation with or without quadrupedal [monarchinitiative.org]

onset Symptoms present at birth 0003577 Delayed speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech [rarediseases.info.nih.gov]

Broad-based gait Wide based walk 0002136 Cerebellar atrophy Degeneration of cerebellum 0001272 Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Congenital [rarediseases.info.nih.gov]

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Congenital Merosin-Positive Muscular Dystrophy

However, data on early-onset and usually severe congenital muscular dystrophies are limited. [ncbi.nlm.nih.gov]

The disease spectrum within the dystroglycanopathies ranges from congenital onset with CNS and eye involvement, to congenital onset without eye involvement and mild development [ncbi.nlm.nih.gov]

Recently, children with congenital onset of Lamin deficiency were found presenting with prominent weakness in the neck known as, 'Dropped-head Syndrome,' as well as spinal [disabled-world.com]

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Amish Lethal Microcephaly

onset Symptoms present at birth 0003577 Flexion contracture Flexed joint that cannot be straightened 0001371 Lactic acidosis Increased lactate in body 0003128 Muscular hypotonia [rarediseases.info.nih.gov]

onset Brain atrophy Ptosis Open mouth High palate Congenital muscular dystrophy Myopathic facies Generalized muscle weakness Muscular dystrophy Ventriculomegaly Strabismus [mendelian.co]

It has been classified in two types based on the onset: [7] Congenital [ edit ] Isolated Familial ( autosomal recessive ) microcephaly Autosomal dominant microcephaly X-linked [en.wikipedia.org]

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Severe Neonatal-Onset Encephalopathy with Microcephaly

onset X-linked recessive inheritance Constipation Respiratory failure Gastroesophageal reflux Feeding difficulties in infancy Cerebral hypomyelination Need help with a diagnosis [mendelian.co]

Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): (no data available) Epidemiological data: Class of prevalence: Average age onset [csbg.cnb.csic.es]

It has been classified in two types based on the onset: [7] Congenital [ edit ] Isolated Familial ( autosomal recessive ) microcephaly Autosomal dominant microcephaly X-linked [en.wikipedia.org]

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Methylmalonic Acidemia with Homocystinuria Type cblJ

Heritability: Autosomal recessive inheritance Clinical Modifiers: Congenital onset AKA: MAHCJ, cblJ defects, methylmalonic acidemia with homocystinuria type cblJ, cobalamin [monarchinitiative.org]

onset Symptoms present at birth 0003577 Decreased adenosylcobalamin 0003145 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Generalized hypotonia Decreased [rarediseases.info.nih.gov]

Conclusion: cblC patients may have an increased incidence of congenital malformations suggesting prenatal effects of abnormal cbl metabolism. [nature.com]

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Usher Syndrome Type 1K

[…] profound Type II Congenital mild-severe sloping; progressive Progressive later onset Type III Retinitis Pigmentosa Congenital Onset prebalance puberty problems; absent caloric [studyslide.com]

Usher syndrome type I is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. [ncbi.nlm.nih.gov]

(WORDRECOG.)R L8% 4%Tympanograms: normalUSH 1B26Adult with USH 2A who presented with non-syndromic RPUsher Gene Phenotype Most genes cause congenital/childhood onset SNHL [docslide.com.br]

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Autosomal Recessive Primary Microcephaly Type 10

onset Dilation of lateral ventricles Flexion contracture Hypertrophic cardiomyopathy Abnormality of the dentition Atrial septal defect Feeding difficulties Cryptorchidism [mendelian.co]

onset Cerebral atrophy Acidosis Progressive microcephaly Myopathy Hyperreflexia Optic atrophy Cerebral cortical atrophy Intellectual disability Hypoplasia of the pons Severe [mendelian.co]

[…] malformations, deformations and chromosomal abnormalities - Epidemiological data: Class of prevalence: Average age onset: neonatal/infancy Average age of death: - Type of [csbg.cnb.csic.es]

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Usher Syndrome Type 1J

USH1 is characterized by profound congenital sensorineural deafness, absent vestibular function and prepubertal onset of progressive retinitis pigmentosa leading to blindness [genecards.org]

The hearing loss in Usher syndrome is usually congenital, meaning present from birth. [ohsu.edu]

onset of progressive RP. [blueprintgenetics.com]

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Facial Dysmorphism-Immunodeficiency-Livedo-Short Stature Syndrome

onset Meningitis Multiple cafe-au-lait spots Dystonia Abnormal lung lobation Intellectual disability, profound Corneal opacity Muscular dystrophy Renal cyst Abnormality of [mendelian.co]

Diabetes of the Young; FRTS4 OMIM:228000 Farber Lipogranulomatosis; FRBRL OMIM:228020 Fascial Dystrophy, Congenital OMIM:600072 Fatal Familial Insomnia; FFI OMIM:613282 Fatty [informatics.jax.org]

[…] nuchal translucency Triangular mouth Cerebral hypoplasia Embryonal rhabdomyosarcoma Premature chromatid separation Vaginal neoplasm Hypodysplasia of the corpus callosum Pain Congenital [mendelian.co]

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Seckel Syndrome

[…] liver - See Nodular regenerative hyperplasia Nodulosis arthropathy osteolysis syndrome - See Torg Winchester syndrome Noma Noma neonatorum - See Noma NOMID - See Neonatal Onset [rarediseases.info.nih.gov]

Congenital cataracts or other structural anomalies of the eye may be present. [ncbi.nlm.nih.gov]

early onset with diffuse mesangial sclerosis - See Diffuse mesangial sclerosis Nephrotic syndrome, idiopathic, steroid-resistant Nephrotic syndrome, steroid-resistant, autosomal [rarediseases.info.nih.gov]

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Osteogenesis Imperfecta Type 16

Images in Clinical Medicine Janet Reeder, M.S., P.A.-C., and Eric Orwoll, M.D. 2 Citing Articles Osteogenesis imperfecta is a heritable disorder caused by mutations in the gene for type I collagen. The Sillence classification of osteogenesis imperfecta (types I through IV) is based on clinical characteristics. Whole-body[…] [nejm.org]

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Transient Bullous Dermolysis of the Newborn

onset Symptoms present at birth 0003577 Fragile skin Skin fragility 0001030 Showing of 11 Last updated: 6/1/2019 Making a diagnosis for a genetic or rare disease can often [rarediseases.info.nih.gov]

[…] malformations, deformations and chromosomal abnormalities - Epidemiological data: Class of prevalence: Average age onset: neonatal/infancy Average age of death: - Type of [csbg.cnb.csic.es]

Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 Autosomal dominant inheritance 0000006 Autosomal recessive inheritance 0000007 Congenital [rarediseases.info.nih.gov]

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Wiedemann-Rautenstrauch Syndrome

onset Symptoms present at birth 0003577 Delayed closure of the anterior fontanelle Later than typical closing of soft spot of skull 0001476 Dysphagia Poor swallowing Swallowing [rarediseases.info.nih.gov]

[…] through HPO Abnormality of cardiovascular system morphology 0030680 Absence of subcutaneous fat Absent fat below the skin 0007485 Autosomal recessive inheritance 0000007 Congenital [rarediseases.info.nih.gov]

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Factor II Deficiency

A 7 months old infant with transient hypoproteinemia and hypoprothrombinemia is described. The hypoproteinemia is attributed to protein losing enteropathy, and transient Menetrier's disease is suggested as a possible cause for the protein loss. Assuming that this baby was not vitamin K deficient, and knowing that[…] [ncbi.nlm.nih.gov]

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Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia

teenage onset, cerebellar atrophy [ 65 ] SCAR13 GRM1 614831 Cognitive impairment, mild pyramidal signs, short stature, seizures, congenital onset, cerebellar atrophy [ 66 [cerebellumandataxias.biomedcentral.com]

Children with ADHSP and with congenital onset of spasticity ( mutations in the genes encoding spastin and atlastin) have a non-progressive or very slowly progressive course [cmm.ucsd.edu]

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Hereditary Factor XIIIA Deficiency

Hereditary factor XIII A subunit deficiency is an autosomal recessive genetic disease that results in improper stabilization of blood clots. The prevalence rate is approximately 1 in 2 million individuals. Umbilical cord bleeding, soft tissue bruising, recurrent spontaneous abortions and life-threatening hemorrhage in the[…] [symptoma.com]

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Generalized Peeling Skin Syndrome

Onset is congenital or before 6 years of age. [idoj.in]

onset in the neonatal period and infancy. [homeremedies9.com]

Onset is congenital. The epidermis is psoriasiform with an absent or reduced granular layer, with marked parakeratosis and acanthosis. [idoj.in]

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Familial Dysautonomia

Type II (Congenital Sensory Neuropathy): It is characterized by onset of symptoms in early infancy or childhood. [web.archive.org]

onset is in infancy [ 1 – 3 ]. [doi.org]

Congenital insensitivity to pain with anhidrosis (CIPA; HSAN IV) Clinical Presentation HSAN IV is the second most common HSAN and like the other recessively transmitted HSAN [doi.org]

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SAMS Syndrome

A second girl with the unique combination of auditory canal atresia and scapulohumeral synostosis is reported. This patient also had bilateral clubfeet and genital abnormalities. The other patient reported with this syndrome and the presently reported child both had consanguineous parents. Mental development was[…] [ncbi.nlm.nih.gov]

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Herlitz Disease

Chronic intestinal pseudoobstruction Congenital short bowel syndrome Congenital valvular dysplasia Ehlers-Danlos syndrome with periventricular heterotopia Frontometaphyseal [csbg.cnb.csic.es]

Melanoma, cutaneous malignant, 2},155601 CDSN25.50.630.46Hypotrichosis 2146520 CDSN25.50.630.46Peeling skin syndrome 1270300 CECR1111.60.990.98Polyarteritis nodosa, childhood-onset [qgenomics.com]

241500 Odontohypophosphatasia 146300 ALS2 2q33.1 Amyotrophic lateral sclerosis 2, juvenile 205100 Primary lateral sclerosis, juvenile 606353 Spastic paralysis, infantile onset [institutobernabeu.com]

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Drayer Syndrome

Other diseases and conditions related to Chromosome 15q26-qter deletion syndrome may include: Blepharophimosis Microcephaly Brachydactyly Talipes equinovarus Micropenis Nervous System Disorders Short Stature Cryptorchidism Hypospadias Micrognathia Strabismus Global developmental delay Failure to Thrive Intrauterine[…] [familydiagnosis.com]

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Osteoporosis-Pseudoglioma Syndrome

BACKGROUND: The osteoporosis-pseudoglioma syndrome is a rare autosomal recessive disorder characterized by severe juvenile-onset osteoporosis and congenital or early-onset [ncbi.nlm.nih.gov]

Abstract Osteoporosis-pseudoglioma syndrome (OPPG) is a rare autosomal recessive disorder characterised by severe juvenile-onset osteoporosis and congenital or early-onset [ncbi.nlm.nih.gov]

From Wikidata Jump to navigation Jump to search Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset [wikidata.org]

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Cystitis

Bruck syndrome 1 MedGen UID: 342431 •Concept ID: C1850168 • Disease or Syndrome Bruck syndrome is characterized by congenital contractures with pterygia, onset of fractures [ncbi.nlm.nih.gov]

[…] or early-onset camptodactyly and noninflammatory arthropathy with synovial hyperplasia. [ncbi.nlm.nih.gov]

Onset – typically between ages three and six years – begins with the involvement of the interphalangeal joints. [ncbi.nlm.nih.gov]

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Nemaline Myopathy Type 5

RESULTS: The child had congenital onset of severe, diffuse weakness that remained fairly static for five years. [n.neurology.org]

These subtypes range from severe, life-threatening congenital-onset (at birth) to less severe forms in childhood or adulthood, but all forms share characteristic symptoms [patientworthy.com]

Nemaline myopathy is a rare genetic muscle disorder, and there are technically six different clinical subtypes of this disorder based on disease severity and age of onset. [patientworthy.com]

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Adenovirus Infection

Complications during pregnancy and respiratory failure that required tracheal intubation at birth suggested congenital infection. [ncbi.nlm.nih.gov]

Two infants with fulminant early-onset sepsis syndrome and respiratory failure are described. Adenovirus was isolated from cultures from both patients. [ncbi.nlm.nih.gov]

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Anemia

In white people, the mean age of onset is 60; in black people, the mean age is 50 years. [emedicine.com]

Congenital PA manifests in children aged 9 months to 10 years; the mean age is 2 years. [web.archive.org]

Congenital PA manifests in children aged 9 months to 10 years; the mean age is 2 years. Gardner W, Osler W. [emedicine.com]

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