Variable Severity: Causes & Reasons

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Possible Causes for Variable Severity

Oculootoradial Syndrome

Upper limbs may be severely malformed. Extraocular motor disturbances and hearing loss of variable severity have also been reported. [malacards.org]

Disease Ontology Term: IVIC syndrome DO ID DOID:0111381 Description An autosomal dominant disease characterized by radial ray defect of variable severity, mixed congenital [yeastgenome.org]

[…] tissues include eye, ovary and testis, and related phenotypes are hearing impairment and joint stiffness Disease Ontology : 12 A syndrome characterized by radial ray defect of variable [malacards.org]

Hand-Foot-Genital Syndrome

severity. [experts.umich.edu]

Affected males may have penile hypospadias of variable severity with or without chordee, short penis, or bifid scrotum. [link.springer.com]

[…] include a displaced urethral opening and malposition of ureteral orifices in the bladder wall; affected males may have hypospadias (ventrally misplaced urethral opening) of variable [experts.umich.edu]

Autosomal Dominant Optic Atrophy and Cataract

severity, followed by a late anterior and/or posterior cortical cataract. [orpha.net]

[…] atrophy and cataract Disease definition A form of autosomal dominant optic atrophy characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable [orpha.net]

[…] cataract (ADOAC) is a form of autosomal dominant optic atrophy (ADOA; see this term) characterized by an early and bilateral optic atrophy leading to insidious visual loss of variable [orpha.net]

Autosomal Recessive Channelopathy-Associated Insensitivity to Pain

Pontocerebellar Hypoplasia Type 2A

Vermis hypoplasia is very variable, severe in patient 13, very slight in patient 10-11-12 and also predominates at the inferior part. B. [en.wikipedia.org]

[…] psychomotor retardation, abnormal movements, hypotonia, spasticity, and variable visual defects[11] PCH9 615809 AMPD2 1p13.3 Severely delayed psychomotor development, progressive [en.wikipedia.org]

[…] cerebello-cerebral atrophy (PCCA) PCH2E 615851 VPS53 17p13.3 Profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy[7] PCH2F 617026 TSEN15 1q25.3 Variable [en.wikipedia.org]

Pontocerebellar Hypoplasia Type 2D

Vermis hypoplasia is very variable, severe in patient 13, very slight in patient 10-11-12 and also predominates at the inferior part. B. [en.wikipedia.org]

Hereditary Spherocytosis Type 1

The clinical expression of HS is highly variable, ranging from asymptomatic condition to a severe life-threatening hemolytic anemia. [pesquisa.bvsalud.org]

Exudative Vitreoretinopathy Type 3

The clinical course is variable, but the most severe forms may be active for life, with variable periods of quiescence(2). [sistemacbo.com]

IFAP Syndrome with or without BRESHEK Syndrome

The IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. [ncbi.nlm.nih.gov]

Other genodermatoses with severe keratitis are KID syndrome ( 148210 ) and Hereditary Mucoepithelial Dysplasia ( 158310 ). [disorders.eyes.arizona.edu]

[…] vary with different mutations, it is possible that all cases of IFAP with or without the added BRESHECK findings are part of the clinical spectrum of a single disorder (variable [disorders.eyes.arizona.edu]

Pontocerebellar Hypoplasia Type 10

Vermis hypoplasia is very variable, severe in patient 13, very slight in patient 10-11-12 and also predominates at the inferior part. B. [en.wikipedia.org]

Bilateral Polymicrogyria

severity, seizures Cause [ edit ] The cause of polymicrogyria is unclear. [en.wikipedia.org]

[…] parasagittal parieto-occipital polymicrogyria (BPPP) – Partial seizures, some with mental retardation Bilateral generalized polymicrogyria (BGP) – Cognitive and motor delay of variable [en.wikipedia.org]

Collodion Baby Syndrome

Patients who survive beyond infancy have severe ichthyosis and variable neurologic impairment. [ncbi.nlm.nih.gov]

Most of these babies die within first few days to weeks of life because of respiratory difficulty, inability to feed, and severe skin infections. [ncbi.nlm.nih.gov]

Froster-Huch Syndrome

[…] lung hypoplasia, and variable associated malformations. [rareguru.com]

Purohit MD, MPH Froster-Huch Syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe lung hypoplasia, and variable associated [dovemed.com]

Number: 2141 Definition Diaphragmatic defect-limb deficiency-skull defect syndrome is characterized by the association of classical diaphragmatic hernia (Bochdalek type) with severe [rareguru.com]

Charcot-Marie-Tooth Disease Type 2B1

The disease course and severity are variable, even between affected members of the same family. [ncbi.nlm.nih.gov]

Genu valgum St Helena Familial

Helena familial genu valgum; Genu valgum, hereditary pubertal; Severe 'knock-knees' and variable lesser malalignment at the elbows and wrists; St. [rarediseases.info.nih.gov]

Helena Familial 57 Genu Valgum, Hereditary Pubertal 57 20 Genu Valgum, St Helena Familial 20 70 Severe 'knock-Knees' and Variable Lesser Malalignment at the Elbows and Wrists [malacards.org]

'knock-knees' and variable lesser malalignment at the elbows and wrists, St. [rareguru.com]

GOMBO Syndrome

severity. [orpha.net]

Mental retardation of variable severity was present in all patients. Three of the older patients had hypertension. [jmg.bmj.com]

[…] definition Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable [orpha.net]

Osteogenesis Imperfecta Type 5

severity. [orpha.net]

Due to considerable phenotypic variability, Sillence et al. (1979) developed a classification of OI subtypes based on clinical features and disease severity: OI type I, with [malacards.org]

It is a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. [iofbonehealth.org]

Autosomal Recessive Cutis Laxa Type 1A

Autosomal recessive cutis laxa type 2B is a rare, hereditary, developmental defect with connective tissue involvement characterized by cutis laxa of variable severity, in [monarchinitiative.org]

OMIM : 56 The phenotype of autosomal recessive cutis laxa type II (ARCL2) includes cutis laxa of variable severity, abnormal growth, developmental delay, and associated skeletal [malacards.org]

OMIM : 56 Autosomal recessive cutis laxa type II represents a spectrum of clinical entities with variable severity of cutis laxa, abnormal growth, developmental delay, and [malacards.org]

Cocaine Intoxication

[…] based on several studies and case reports.[31] Vasodilators[edit] Nitric-oxide mediated vasodilators, such as nitroglycerin and nitroprusside, are effective at lowering blood [en.wikipedia.org]

[…] haloperidol and olanzapine may also be useful.[31] The alpha-2 agonist dexmedetomidine may also be useful for agitation, but effects on heart rate and blood pressure are variable [en.wikipedia.org]

Brachydactyly Type E1

All studied cases in the literature demonstrated an autosomal dominant pattern of inheritance with variable severity. [ojrd.biomedcentral.com]

The range of variability of the trait is less extreme among various affected members of the same pedigree. [ojrd.biomedcentral.com]

Charcot-Marie-Tooth Disease Type 4J

severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle [orpha.net]

Symptoms and age of onset are variable. Some people have a classic presentation, while others have slowly progressing symptoms. [charcot-marie-toothnews.com]

[…] disease type 4J Disease definition Charcot-Marie-Tooth disease type 4J is a subtype of Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably [orpha.net]

CLOVES Syndrome

The manifestations are very variable ranging from mild to severe anomalies. These abnormalities are typically present at birth. The most common features are: 1. [rarediseases.org]

Soft fatty masses of variable size are noted at birth and can be located in the back, flanks, axilla, abdomen and buttocks. [rarediseases.org]

Foveal Hypoplasia - Presenile Cataract

severe intellectual disability, growth failure, and variable anomalies. [ncbi.nlm.nih.gov]

Bohring-Opitz syndrome (BOS) is characterized by distinctive facial features and posture, growth failure, variable but usually severe intellectual disability, and variable [ncbi.nlm.nih.gov]

[…] to profound ID Microcephaly BOS posture Common in Shashi-Pena syndrome: Variable ID (borderline to severe) Macrocephaly Lesser feeding difficulties & normal weight gain Episodic [ncbi.nlm.nih.gov]

Adams-Oliver Syndrome

severity. [pagepress.org]

2016 Abstract Adams-Oliver syndrome (AOS) is characterized by the combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb defects of variable [mdpi.com]

Phenotypic variability of this syndrome results in mild to severe defects. [bmcanesthesiol.biomedcentral.com]

Baraitser-Winter Syndrome

severity, often with severe epilepsy. [ebi.ac.uk]

Seizures of variable severity affect about half of the patients, are usually associated with structural brain anomalies and often difficult to treat. [accessanesthesiology.mhmedical.com]

Progressive, severe dystonia was seen in one family. Intellectual disability and epilepsy are variable in severity and largely correlate with CNS anomalies. [research.rug.nl]

Pyruvate Kinase Deficiency

We report the clinical description and the extended molecular analysis in 3 PK deficient patients with clinical phenotype of variable severity. [ncbi.nlm.nih.gov]

The disorder has a worldwide distribution and is characterized clinically by lifelong chronic hemolysis of variable severity. [ommbid.mhmedical.com]

severity. [ncbi.nlm.nih.gov]

Dermo-Odonto Dysplasia

It is characterised by signs of variable severity: dry and thin skin, dental anomalies, nail alteration and trichodysplasia. Fourteen cases have been described so far. [malacards.org]

Congenital Disorder of Glycosylation Type 1L

The clinical spectrum of N-glycosylation defects is variable, ranging from severe multisystem disorders to dysfunction of specific organs. [ncbi.nlm.nih.gov]

Combined Immunodeficiency due to CD3-Gamma Deficiency

Other genetic defects also may be associated with either T-cell lymphopenia of variable severity or combined immunodeficiencies. [aacc.org]

[…] clinical severity. [genecards.org]

Disease description An autosomal recessive primary immunodeficiency characterized by highly variable clinical severity. [uniprot.org]

Acute Viral Bronchiolitis

It usually leads to progressive decline in lung function and has variable outcomes. [ncbi.nlm.nih.gov]

[…] differences in epidemiologic variables were found. [46] Although severe bronchiolitis is uncommon in infants with these characteristics (ie, previously healthy term infants [emedicine.medscape.com]

Etiology Several risk factors can lead to the development of bronchiolitis obliterans. [ncbi.nlm.nih.gov]