Fever, and Tapered finger

Diseases related with Fever and Tapered finger

In the following list you will find some of the most common rare diseases related to Fever and Tapered finger that can help you solving undiagnosed cases.

Top matches:

Congenital myasthenic syndromes (CMS) are a group of inherited disorders affecting the neuromuscular junction (NMJ). Patients present clinically with onset of variable muscle weakness between infancy and adulthood. These disorders have been classified according to the location of the defect: presynaptic, synaptic, and postsynaptic. CMS6 is an autosomal recessive CMS resulting from a presynaptic defect; patients have onset of symptoms in infancy or early childhood and tend to have sudden apneic episodes. Treatment with acetylcholinesterase inhibitors may be beneficial (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6 Is also known as myasthenic syndrome, presynaptic, congenital, associated with episodic apnea|congenital myasthenic syndrome type ia2, formerly|cms ia2, formerly|cms1a2, formerly|cmsea|fimg2, formerly|myasthenia, familial infantile, formerly|myasthenia gravis, familial in

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC; CMS6

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

Crisponi/cold-induced sweating syndrome is an autosomal recessive disorder characterized in the neonatal period by orofacial weakness with impaired sucking and swallowing resulting in poor feeding necessitating medical intervention. Affected infants show a tendency to startle, with contractions of the facial muscles in response to tactile stimuli or during crying, trismus, abundant salivation, and opisthotonus. During the first year, most infants have spiking fevers. These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. After the first 2 years, the abnormal muscle contractions and fevers abate, and most patients show normal psychomotor development. From childhood onward, the most disabling symptoms stem from impaired thermoregulation and disabling abnormal sweating, which can be treated with clonidine. Patients have hyperhidrosis, mainly of the upper body, in response to cold temperatures, and sweat very little with heat. Other features include characteristic facial anomalies, such as round face, chubby cheeks, micrognathia, high-arched palate, low-set ears, and depressed nasal bridge, dental decay, camptodactyly, and progressive kyphoscoliosis (summary by Hahn et al., 2010). Genetic Heterogeneity of Crisponi/Cold-Induced Sweating SyndromeCrisponi/cold-induced sweating syndrome-2 (CISS2 ), which is clinically indistinguishable from CISS1, is caused by mutation in the CLCF1 gene (OMIM ) on chromosome 11q13. CISS3 (OMIM ) is caused by mutation in the KLHL7 gene (OMIM ) on chromosome 7p15.

CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1 Is also known as crisponi syndrome|sohar-crisponi syndrome|muscle contractions, tetanoform, with characteristic face, camptodactyly, hyperthermia, and sudden death

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Micrognathia


SOURCES: MESH OMIM MENDELIAN

More info about CRISPONI/COLD-INDUCED SWEATING SYNDROME 1; CISS1

Other less relevant matches:

Mowat-Wilson syndrome is an autosomal dominant complex developmental disorder; individuals with functional null mutations present with mental retardation, delayed motor development, epilepsy, and a wide spectrum of clinically heterogeneous features suggestive of neurocristopathies at the cephalic, cardiac, and vagal levels. Mowat-Wilson syndrome has many clinical features in common with Goldberg-Shprintzen syndrome (OMIM ) but the 2 disorders are genetically distinct (Mowat et al., 2003). Goldberg-Shprintzen syndrome is caused by mutation in the KIAA1279 gene (OMIM ) located on 10q.

MOWAT-WILSON SYNDROME; MOWS Is also known as microcephaly, mental retardation, and distinct facial features, with or without hirschsprung disease|hirschsprung disease-mental retardation syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOWAT-WILSON SYNDROME; MOWS

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome is a rare, syndromic intellectual disability primarily characterized by moderate to severe intellectual disability, true-to-relative microcephaly and brain abnormalities including a thin corpus callosum, cerebellar hypoplasia, cerebral white matter hypoplasia and multi-focal hyperintensity of cerebral white matter on MRI. Obesity and distinctive craniofacial dysmorphism (including brachycephaly, round face, straight eyebrows, synophrys, hypertelorism, epicanthus, wide and depressed nasal bridge, protruding ears with uplifted lobe, downslanting corners of the mouth) are additional features.

INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME Is also known as autosomal recessive intellectual disability due to trappc9 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-OBESITY-BRAIN MALFORMATIONS-FACIAL DYSMORPHISM SYNDROME

Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

SHFYNG syndrome is an autosomal dominant multisystem disorder characterized by delayed psychomotor development, intellectual disability (ID), hypotonia, and behavioral abnormalities. Additional features include contractures, feeding difficulties, and variable dysmorphic facial features. The severity of the disorder is highly variable: some patients may die in utero with fetal akinesia, whereas others can live with moderate disability. Individuals are affected only if the mutation occurs on the paternal allele, since MAGEL2 is a maternally imprinted gene (summary by Fountain et al., 2017)

PRADER-WILLI SYNDROME DUE TO A POINT MUTATION Is also known as schaaf-yang syndrome|pws due to a point mutation|pwls|prader-willi-like syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME DUE TO A POINT MUTATION

Top 5 symptoms//phenotypes associated to Fever and Tapered finger

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Fever and Tapered finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Strabismus Intellectual disability, severe Abnormal facial shape Apnea Respiratory insufficiency Cryptorchidism Hypertelorism Poor suck Hypoglycemia Microcephaly Failure to thrive Short stature Scoliosis Muscular hypotonia Wide nasal bridge Ptosis Hearing impairment Talipes equinovarus Syndactyly Short nose Clinodactyly Hyperhidrosis Respiratory failure Respiratory distress Mandibular prognathia Epicanthus Vomiting Behavioral abnormality Nystagmus Hepatomegaly Growth delay Ventriculomegaly Low-set ears Temperature instability Anteverted nares Camptodactyly Narrow mouth Elbow flexion contracture Kyphosis Hypoplasia of the corpus callosum Short neck Depressed nasal bridge Micrognathia Delayed speech and language development Flexion contracture Limited elbow extension Retrognathia Pain Cleft palate Neoplasm Esotropia Myopia Autism Polyhydramnios Respiratory tract infection Arthrogryposis multiplex congenita Increased body weight Narrow forehead Sleep disturbance Small hand Downturned corners of mouth Neonatal hypotonia Thin upper lip vermilion Abnormality of the pinna Prominent forehead Obesity Congestive heart failure

Rare Symptoms - Less than 30% cases

Hyperinsulinemia Clinodactyly of the 5th finger Cardiomyopathy Narrow palm Hypothermia Hypoventilation Polyphagia Open mouth Brachycephaly Failure to thrive in infancy Sleep apnea Spontaneous abortion Episodic fever Abnormality of the dentition Decreased fetal movement Oligohydramnios Misalignment of teeth Opisthotonus Sepsis Recurrent urinary tract infections Short palm Highly arched eyebrow Full cheeks Wide intermamillary distance Round face Dehydration Cardiomegaly Arrhythmia Gastroesophageal reflux Thick eyebrow Synophrys Autistic behavior Adducted thumb Nasal speech Radial deviation of finger Abnormality of the gastrointestinal tract Intellectual disability, mild Short foot Ectopic kidney Telecanthus Constipation Agenesis of corpus callosum Posteriorly rotated ears Cerebral cortical atrophy High forehead Macrotia Hydronephrosis Postnatal growth retardation Depressivity Pulmonic stenosis Cleft upper lip Delayed eruption of teeth Vesicoureteral reflux Carious teeth Otitis media Febrile seizures Abnormal heart morphology Hypospadias Sloping forehead Widely spaced teeth Malignant hyperthermia Hypopnea Rocker bottom foot Polymicrogyria Arachnodactyly Hypertension Pyloric stenosis Motor delay Absent speech Frontal bossing Ventricular septal defect Micropenis Atrial septal defect Hyperactivity Hypogonadism Dilatation Falls Intrauterine growth retardation Dolichocephaly Neurological speech impairment Aspiration Myeloid leukemia Dyspnea Webbed neck Muscle weakness Lymphadenopathy Weak cry Vertigo Leukemia Erysipelas Acrocyanosis Pallor Weight loss Recurrent respiratory infections Thrombocytopenia Splenomegaly Edema Fatigue Anemia Psychosis Sensorineural hearing impairment Cognitive impairment Cyanosis Feeding difficulties in infancy Renal insufficiency Hyporeflexia Hypertonia Attention deficit hyperactivity disorder Long philtrum Hemolytic anemia Deep philtrum Ectrodactyly Oligodactyly Hypoplastic nipples Dislocated radial head Abnormality of digit 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Self-injurious behavior Tricuspid regurgitation Poor gross motor coordination Hypoplastic labia minora Poor appetite Clubbing Proximal placement of thumb Short metatarsal Almond-shaped palpebral fissure Psychotic episodes Aspiration pneumonia Hiatus hernia Phocomelia Projectile vomiting Frontal upsweep of hair Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Absent hand Gastroparesis Supernumerary ribs Disseminated intravascular coagulation Triangular mouth Abnormality of the urinary system Hand oligodactyly Perimembranous ventricular septal defect Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Thick upper lip vermilion Central adrenal insufficiency Optic nerve coloboma Hypoplastic labia majora Esophagitis Incoordination Low anterior hairline Hypoplasia of the radius Paralysis Optic atrophy Small for gestational age Prominent nasal bridge Craniosynostosis Proximal muscle weakness Hypertrophic cardiomyopathy Abnormality of the skeletal system Aggressive behavior Proteinuria Conductive hearing impairment Hydrocephalus Rigidity Proptosis Glaucoma Autoimmunity Severe short stature Pneumonia Ophthalmoplegia Delayed skeletal maturation Inguinal hernia Hernia Headache Hip dislocation Toe syndactyly Relative macrocephaly High myopia Torticollis Paresthesia Acromicria Long eyelashes Choanal atresia Hypertrichosis Low posterior hairline Renal hypoplasia Macrocephaly Duplication of internal organs Congenital diaphragmatic hernia Micromelia Microdontia Triangular face Renal cyst Microcornea Single transverse palmar crease High, narrow palate Hirsutism Pulmonary hypoplasia Thin vermilion border Astigmatism Blue sclerae Underdeveloped supraorbital ridges Malrotation of colon Abnormality of nervous system morphology Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Increased muscle lipid content Nonketotic hypoglycemia Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Biventricular hypertrophy Long toe Intracerebral periventricular calcifications Ureteral duplication Cystic renal dysplasia Hypoketotic hypoglycemia Heart block Enlarged kidney Hyperkalemia Cerebral hemorrhage Hypoplastic toenails Overfolded helix Polycystic kidney dysplasia Ventricular arrhythmia Tapered toe Antenatal intracerebral hemorrhage Narrow palate Pterygium Multiple pterygia Abnormality of the philtrum Excessive salivation Hyperinsulinemic hypoglycemia Fetal akinesia sequence Hyperventilation Delayed ability to walk Short humerus Akinesia Impulsivity Trigonocephaly Microretrognathia Decreased plasma total carnitine Exotropia Short palpebral fissure Inability to walk Smooth philtrum Talipes Wide mouth Hyperlordosis Coarse facial features Brachydactyly Long-chain dicarboxylic aciduria Elevated serum long-chain fatty acids Hyperammonemia Knee flexion contracture Otitis media with effusion Multifocal cerebral white matter abnormalities Thick lower lip vermilion Dysarthria Prominent nose Macroglossia Skin rash Abnormal pyramidal sign Joint stiffness Arthralgia Dysphagia Skeletal muscle atrophy Large fleshy ears Subcutaneous nodule Horizontal eyebrow Abnormality of brain morphology Congenital stationary night blindness Anteverted ears Congenital hypothyroidism Generalized myoclonic seizures Cerebellar hypoplasia Dysplastic tricuspid valve Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Abnormality of the face Lipodystrophy Multicystic kidney dysplasia Acidosis Renal dysplasia Aciduria Coma Metabolic acidosis Hepatic steatosis Bulbous nose Hepatic failure Abnormality of the foot Lethargy Dilated cardiomyopathy Elevated hepatic transaminase Elevated serum creatine phosphokinase Hyperostosis Hyperreflexia Cataract Abnormality of the Leydig cells Clubbing of toes Erythema nodosum Clubbing of fingers Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Right bundle branch block Clitoral hypoplasia Hypopigmentation of hair Poor fine motor coordination Pectus carinatum Focal-onset seizure Visual loss Brain atrophy Abdominal distention Everted lower lip vermilion Iris coloboma Scarring Abnormality of the cerebral white matter Finger syndactyly Short philtrum Camptodactyly of finger Recurrent infections Abnormal cardiac septum morphology Coloboma Abnormality of the kidney Nausea and vomiting Anxiety Deeply set eye Cirrhosis Bruising susceptibility Hematuria Migraine Hypotelorism Tetralogy of Fallot Coarctation of aorta Pectus excavatum Cerebellar atrophy Pulmonary artery stenosis External ear malformation Drowsiness Submucous cleft hard palate Supernumerary nipple Hallux valgus Cupped ear Bifid scrotum Aplasia/Hypoplasia of the cerebellum Sparse eyebrow Abnormality of the genitourinary system Fine hair Drooling Aplasia/Hypoplasia of the corpus callosum Cutaneous syndactyly Absence seizures Pointed chin Postnatal microcephaly Aganglionic megacolon Abnormality of the genital system Recurrent otitis media Immunodeficiency Sparse scalp hair Patent ductus arteriosus Pancytopenia Low hanging columella Malar flattening Large face Central apnea Trismus Narrow nose Abnormal neutrophil count Spasticity Acute kidney injury Disproportionate tall stature Overlapping toe Keratitis Hypohidrosis Macronodular cirrhosis Kyphoscoliosis Interphalangeal joint contracture of finger Generalized-onset seizure Pes planus Underdeveloped nasal alae Facial palsy Limitation of joint mobility Sudden cardiac death Irritability Wide nose Blepharophimosis Velopharyngeal insufficiency Unexplained fevers Lymphedema Cellulitis Bone marrow hypocellularity Abnormality of cardiovascular system morphology Leukopenia Microphthalmia Intracranial hemorrhage Diarrhea Myelodysplasia Chronic otitis media Leukocytosis Prolonged bleeding time Downslanted palpebral fissures Bilateral camptodactyly Acute myeloid leukemia Acute leukemia Hypercoagulability Verrucae Abnormality of the optic nerve Myeloproliferative disorder Granulocytopenia Cold-induced sweating Facial tics Smooth tongue Hypernatremic dehydration Abnormal eyebrow morphology Chronic constipation Abdominal obesity Insulin resistance Diplopia Infantile muscular hypotonia Scrotal hypoplasia Bicuspid aortic valve Narrow palpebral fissure Respiratory insufficiency due to muscle weakness Hypogonadotrophic hypogonadism Easy fatigability Aortic valve stenosis Bradycardia Clumsiness Emotional lability Primary amenorrhea Cutaneous photosensitivity Type II diabetes mellitus Systemic lupus erythematosus Rheumatoid arthritis Ophthalmoparesis Abnormality of the cardiovascular system Amenorrhea Specific learning disability Hip dysplasia Growth hormone deficiency Precocious puberty Large hands Bulbar palsy Iris hypopigmentation Cor pulmonale Generalized hypopigmentation Generalized muscle weakness Ocular albinism Chromosome breakage Hypoplasia of the fovea Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Pulmonary embolism Inflammation of the large intestine Striae distensae Impaired pain sensation Narrow nasal bridge Hepatitis External genital hypoplasia Truncal obesity Decreased muscle mass Adrenal insufficiency Skeletal muscle hypertrophy Albinism Glucose intolerance Gastrointestinal hemorrhage Hypopigmentation of the skin Tracheal stenosis Generalized muscle hypertrophy Acetylcholine receptor antibody positivity Myopathy Generalized hypotonia due to defect at the neuromuscular junction Muscle specific kinase antibody positivity Single fiber EMG abnormality Aplasia/Hypoplasia of the cerebral white matter Pulmonary artery sling Large basal ganglia Abnormal morphology of the hippocampus Abnormal eye morphology Uplifted earlobe Sudden episodic apnea Atypical absence seizures Happy demeanor Deep plantar creases Subglottic stenosis Broad eyebrow Prominent nasal tip Esodeviation Broad columella Broad hallux phalanx Large earlobe Bruxism Apneic episodes precipitated by illness, fatigue, stress Decreased miniature endplate potentials Glycosuria Hashimoto thyroiditis Abnormality of the immune system Hyperthyroidism Fatigable weakness Primary adrenal insufficiency Infertility Genu valgum Delayed puberty Hypermetropia Pruritus Stroke Abnormality of the nervous system Hyperacusis Raynaud phenomenon Photophobia Myositis Osteopenia Type 2 muscle fiber atrophy EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Abnormality of the thymus Diabetes mellitus Pure red cell aplasia Upslanted palpebral fissure Osteoporosis Intermittent hyperventilation


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