Congenital Onset: Causes & Reasons

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Possible Causes for Congenital Onset

Congenital Merosin-Positive Muscular Dystrophy

Showing of 18 | Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Congenital muscular dystrophy 0003741 Congenital [rarediseases.info.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]

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]

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]

Infantile-Onset Autosomal Recessive Non-Progressive Cerebellar Ataxia

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]

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]

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]

(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]

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

Congenital Erythropoietic Porphyria

[…] porphyria identifiedand one adult onset case. [ncbi.nlm.nih.gov]

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

Congenital erythropoieticporphyria is a rare condition with no cure currentlyavailable. [ncbi.nlm.nih.gov]

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]

Dysequilibrium Syndrome

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

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]

Complex Cortical Dysplasia with other Brain Malformations Type 1

onset Symptoms present at birth 0003577 Cortical dysplasia 0002539 Global developmental delay 0001263 Intellectual disability, moderate IQ between 34 and 49 0002342 Lissencephaly [rarediseases.info.nih.gov]

Vision loss [ more ] 0000572 Percent of people who have these symptoms is not available through HPO Agenesis of corpus callosum 0001274 Autosomal dominant inheritance 0000006 Congenital [rarediseases.info.nih.gov]

Pontocerebellar Hypoplasia Type 4

[…] contracture 0002803 Congenital onset Symptoms present at birth 0003577 Death in infancy Infantile death Lethal in infancy [ more ] 0001522 Gliosis 0002171 Hypoplasia of the [rarediseases.info.nih.gov]

[…] is not available through HPO Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 Autosomal recessive inheritance 0000007 Congenital [rarediseases.info.nih.gov]

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]

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]

Premature atherosclerosis, arterial and venous thrombosis or psychiatric manifestations occur in the late onset forms. [content.iospress.com]

Insulin-Like Growth Factor 1 Deficiency

Heritability: Autosomal recessive inheritance Clinical Modifiers: Congenital onset AKA: insulin-like growth Factor 1 deficiency, growth delay-deafness- intellectual disability [monarchinitiative.org]

onset Symptoms present at birth 0003577 Decreased body weight Decreased weight Low body weight Low weight Weight less than 3rd percentile [ more ] 0004325 Hyperactivity More [rarediseases.info.nih.gov]

[…] metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 Autosomal recessive inheritance 0000007 Clinodactyly Permanent curving of the finger 0030084 Congenital [rarediseases.info.nih.gov]

Congenital Disorder of Glycosylation Type 1W

Association of steroid 5α-reductase type 3 congenital disorder of glycosylation with early-onset retinal dystrophy. JAMA Ophthalmol. 2017;135:339–47. [nature.com]

Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult. Mov Disord 2006;21:869-72. [atm.amegroups.com]

List (moderate evidence) SLC35A2 3 reviews 2 green X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset [panelapp.genomicsengland.co.uk]

Congenital Disorder of Glycosylation Type 2B

Association of steroid 5α-reductase type 3 congenital disorder of glycosylation with early-onset retinal dystrophy. JAMA Ophthalmol. 2017;135:339–47. [nature.com]

SRD5A3-CDG: expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. Am J Med Genet A. 2016;170A:3165–71. [nature.com]

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3

onset Symptoms Read more about symptoms of related disorders: Symptoms of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome Symptoms of Megalencephaly Symptoms [familydiagnosis.com]

onset ; Global developmental delay ; Hydrocephalus ; Macrocephaly ; Megalencephaly ; Polymicrogyria ; Postaxial hand polydactyly ; Prominent forehead ; Ventriculomegaly Associated [mousephenotype.org]

Get Update Schaap Taylor Baraitser syndrome Cataract-deafness-hypogonadism syndrome Disease Type: Rare conditions Congenital onset Intellectual disability (no physical disability [diseaseinfosearch.org]

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]

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]

Autosomal Recessive Non-Syndromic Hydrocephalus

Congenital hydrocephalus-2 is a congenital disorder with onset in utero. [ncbi.nlm.nih.gov]

Childhood-onset nemaline myopathy Congenital fiber-type disproportion myopathy Congenital myopathy with excess of thin filaments Intermediate nemaline myopathy Severe congenital [csbg.cnb.csic.es]

Definition A form of congenital hydrocephalus, a disease characterized by onset in utero of enlarged ventricles due to accumulation of ventricular cerebrospinal fluid. [uniprot.org]

Complex Cortical Dysplasia with other Brain Malformations Type 8

Synonyms POLYMICROGYRIA WITH OPTIC NERVE HYPOPLASIA Classification developmental, eye, genetic, neurological Phenotypes Autosomal recessive inheritance ; Colpocephaly ; Congenital [mousephenotype.org]

onset Uncommon - Between 30% and 50% cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Accelerate your rare disease diagnosis with us Learn more [mendelian.co]

The clinical features of the Fukuyama congenital muscular dystrophy are early onset with mild to moderate hypotonia at birth and a progressive course with more increasing [mrineonatalbrain.com]

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]

Hardikar Syndrome

onset Symptoms present at birth 0003577 Elevated hepatic transaminase High liver enzymes 0002910 Failure to thrive Faltering weight Weight faltering [ more ] 0001508 Growth [rarediseases.info.nih.gov]

[…] inflammation 0030151 Cleft palate Cleft roof of mouth 0000175 Cleft upper lip Harelip 0000204 Coarctation of aorta Narrowing of aorta Narrowing of the aorta [ more ] 0001680 Congenital [rarediseases.info.nih.gov]

Hermansky-Pudlak Syndrome Type 2

onset Symptoms present at birth 0003577 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head [rarediseases.info.nih.gov]

[…] bridge [ more ] 0000431 Percent of people who have these symptoms is not available through HPO Aberrant melanosome maturation 0007384 Autosomal recessive inheritance 0000007 Congenital [rarediseases.info.nih.gov]

Allan-Herndon-Dudley Syndrome

onset Symptoms present at birth 0003577 Delayed CNS myelination 0002188 Drooling Dribbling 0002307 Dysarthria Difficulty articulating speech 0001260 Feeding difficulties [rarediseases.info.nih.gov]

Buphthalmos, increased intraocular pressure, corneal haze, myopia AR CYP1B1, MYOC #231300, %600975 GLAUCOMA, OPEN ANGLE JUVENILE ONSET Increased intraocular pressure, myopia [eyewiki.aao.org]

[…] gene CRYAB Myopathy, distal type 1 MYH7 Myopathy, distal type 4 FLNC Myopathy, distal with anterior tibial onset DYSF Myopathy, distal, Tateyama type CAV3 Myopathy, early-onset [centogene.com]

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]

Hereditary Factor XIIIA Deficiency

onset Symptoms present at birth 0003577 Ecchymosis 0031364 Intracranial hemorrhage Bleeding within the skull 0002170 Reduced factor XIII activity 0008357 Showing of 28 | [rarediseases.info.nih.gov]

[…] these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Bruising susceptibility Bruise easily Easy bruisability Easy bruising [ more ] 0000978 Congenital [rarediseases.info.nih.gov]

Peeling Skin Syndrome Type 1

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]

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]

Muscular Dystrophy-Dystroglycanopathy Type A14

onset Symptoms present at birth 0003577 Decreased light- and dark-adapted electroretinogram amplitude 0000654 Enlarged flash visual evoked potentials 0008045 Everted lower [rarediseases.info.nih.gov]

Homepage Rare diseases Search Search for a rare disease Muscle-eye-brain disease ORPHA:588 Synonym(s): MEB syndrome Muscle-eye-brain syndrome Santavuori congenital muscular [orpha.net]

[…] finger flexion contractures Steppage gait Autophagic vacuoles Juvenile onset Thoracic scoliosis Limited shoulder movement Limb-girdle muscle atrophy Eosinophilia Proximal [mendelian.co]

Verheij Syndrome

onset IEA IEA OMIM-CS:MISCELLANEOUS > ONSET AT BIRTH OMIM:615583 HPO:skoehler 06.02.2014 +OMIM:615583 #615583 VERHEIJ SYNDROME; VRJS;;CHROMOSOME 8q24.3 DELETION SYNDROME [sourceforge.net]

onset Symptoms present at birth 0003577 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Global developmental delay 0001263 Hemivertebrae Missing part [rarediseases.info.nih.gov]

onset Sensorineural hearing impairment Constipation Abnormal facial shape Short nose Bulbous nose Smooth philtrum Ptosis Camptodactyly of finger Neonatal hypotonia Death [mendelian.co]

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]

Pontocerebellar Hypoplasia Type 2A

"Congenital hypoplasia of the cerebellum: developmental causes and behavioral consequences". Front Neuroanat. 7: 29. doi:10.3389/fnana.2013.00029. PMC 3759752. [en.wikipedia.org]

Parboosingh JS, Innes AM, Meijers-Heijboer H, Poll-The BT, Bernier FP, Wanders RJA, Lamont RE, Baas F (2018) Biallelic loss of function variants in COASY cause prenatal onset [en.wikipedia.org]