Epicanthus, and Nephropathy

Diseases related with Epicanthus and Nephropathy

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

Top matches:

Miller-Dieker Syndrome (MDS) is a contiguous gene deletion syndrome of chromosome 17p13.3, characterised by classical lissencephaly (lissencephaly type 1) and distinct facial features. Additional congenital malformations can be part of the condition.

MILLER-DIEKER SYNDROME Is also known as monosomy 17p13.3|lissencephaly due to 17p13.3 deletion|mds|telomeric deletion 17p

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about MILLER-DIEKER SYNDROME

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Other less relevant matches:

Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected.

IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY Is also known as immunodeficiency due to c1, c4, or c2 component complement deficiency|immunodeficiency due to an early component of complement deficiency

Related symptoms:

  • Pain
  • Cataract
  • Fever
  • Renal insufficiency
  • Immunodeficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about IMMUNODEFICIENCY DUE TO A CLASSICAL COMPONENT PATHWAY COMPLEMENT DEFICIENCY

The urofacial syndrome (UFS) is a rare autosomal recessive disease characterized by a severe and early-onset form of dysfunctional urinary voiding. Affected individuals usually present prenatally or in early childhood with grossly distorted renal tracts, comprising dysmorphic bladders and dilatation of the ureter and renal pelvis. They are at high risk of vesicoureteral reflux (VUR), with ascending bacterial infection leading to kidney damage, hypertension, and renal failure. One-third of UFS children also experience constipation or fecal soiling, suggesting that the pathophysiology of the syndrome encompasses a broader functional impairment of elimination. In addition, affected individuals have a characteristic facial grimace when trying to smile (summary by Daly et al., 2010). Genetic Heterogeneity of Urofacial SyndromeUrofacial syndrome-2 (UFS2 ) is caused by mutation in the LRIG2 gene (OMIM ) on chromosome 1p13.

UROFACIAL SYNDROME 1; UFS1 Is also known as facial palsy, partial, with urinary abnormalities|ochoa syndrome|hydronephrosis with peculiar facial expression|urofacial syndrome|inverted smile and occult neuropathic bladder|ufs

Related symptoms:

  • Abnormal facial shape
  • Pain
  • Cryptorchidism
  • Hypertension
  • Fever


SOURCES: OMIM MENDELIAN

More info about UROFACIAL SYNDROME 1; UFS1

Idiopathic multicentric osteolysis is a very rare syndrome characterized by progressive loss of bone, usually the capsal and tarsal bones, resulting in deformity and disability, as well as chronic renal failure in many cases. The bone and renal disorders are sometimes associated with intellectual deficit and facial abnormalities.

MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY Is also known as multicentric osteolysis, autosomal dominant|idiopathic multicentric osteolysis with or without nephropathy|osteolysis, hereditary, of carpal bones with or without nephropathy

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Hypertension
  • Wide nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTICENTRIC CARPO-TARSAL OSTEOLYSIS WITH OR WITHOUT NEPHROPATHY

Glycogen storage disease type I, also known as von Gierke disease, typically manifests during the first year of life with severe hypoglycemia and hepatomegaly caused by the accumulation of glycogen. Affected individuals exhibit growth retardation, delayed puberty, lactic acidemia, hyperlipidemia, hyperuricemia, and in adults a high incidence of hepatic adenomas (summary by Lei et al., 1993).

GLYCOGEN STORAGE DISEASE IA; GSD1A Is also known as gsd1|hepatorenal form of glycogen storage disease|hepatorenal glycogenosis|glucose-6-phosphatase deficiency|gsd ia|von gierke disease|glycogen storage disease i

Related symptoms:

  • Seizures
  • Short stature
  • Growth delay
  • Neoplasm
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IA; GSD1A

Top 5 symptoms//phenotypes associated to Epicanthus and Nephropathy

Symptoms // Phenotype % cases
Renal insufficiency Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Cataract Uncommon - Between 30% and 50% cases
High forehead Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Epicanthus and Nephropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Short stature Global developmental delay Wide nasal bridge Intellectual disability Proteinuria Growth delay Micrognathia Hypertelorism Hypoplasia of the corpus callosum Upslanted palpebral fissure High palate Hepatomegaly Brachydactyly Ataxia Anemia Pain Hematuria Frontal bossing Intrauterine growth retardation Abnormal facial shape Stage 5 chronic kidney disease Heterotopia Omphalocele Narrow forehead Lissencephaly Hypertension Abnormality of neuronal migration Abnormality of the kidney Pyelonephritis Pachygyria Generalized hypotonia Pneumonia Cognitive impairment Microdontia Full cheeks Pes cavus Nystagmus Delayed eruption of teeth Hernia Osteoporosis Short thorax Chronic kidney disease Hepatic failure Abnormality of the dentition Hypotelorism Single transverse palmar crease Polyhydramnios Hepatitis Cryptorchidism Low-set ears Motor delay Anteverted nares Osteopenia Abnormality of cardiovascular system morphology Clinodactyly Hypothyroidism Clinodactyly of the 5th finger Posteriorly rotated ears Prominent forehead Brachycephaly Cerebral cortical atrophy Abnormal heart morphology Muscular hypotonia EEG abnormality

Rare Symptoms - Less than 30% cases

Oral cleft Edema Constipation Scaphocephaly Hypoglycemia Protuberant abdomen Elevated hepatic transaminase Dilatation Midface retrusion Doll-like facies Spasticity Hyperlordosis Gait disturbance Hyperuricemia Widely spaced teeth Cutis laxa Gastroesophageal reflux Irritability Recurrent infections Short ribs Triangular face Hepatic fibrosis Elevated alkaline phosphatase Abnormality of epiphysis morphology Ventriculomegaly Arthritis Hypertriglyceridemia Glomerulosclerosis Cleft lip Fever Macroglossia Depressed nasal bridge Visual impairment Recurrent urinary tract infections Hypertonia Strabismus Obesity Wide mouth Overweight Acute kidney injury Arthralgia Diarrhea Acidosis Feeding difficulties Flattened epiphysis Abnormality of the metaphysis Delayed speech and language development Keratitis Cone-shaped epiphyses of the phalanges of the hand Hypoplasia of dental enamel Retinopathy Abnormality of upper lip Polydactyly Camptodactyly Postnatal growth retardation Thin vermilion border Midline brain calcifications Abnormality of the cardiovascular system Decreased fetal movement Limitation of joint mobility Pelvic kidney Sleep disturbance Joint contracture of the hand Recurrent aspiration pneumonia Cavum septum pellucidum Sacral dimple Deep palmar crease Thick upper lip vermilion Duodenal atresia Progressive spastic paraplegia Prominent occiput Telecanthus Myopia Craniosynostosis Abnormality of metabolism/homeostasis Neoplasm Camptodactyly of finger Failure to thrive Cleft palate Ptosis Retinal dystrophy Focal segmental glomerulosclerosis Short nose Short distal phalanx of finger Inguinal hernia Hypoplasia of the iris Drooling Aspiration pneumonia Poor suck Broad face Congenital hypothyroidism Abnormality of the larynx Abnormality of the urinary system Abnormality of the outer ear Short attention span Hypercholesterolemia Increased body weight Mild microcephaly Self-mutilation Esophagitis Slender finger Chronic constipation Flat occiput Abnormal vertebral morphology Bruxism Hiatus hernia Impaired pain sensation Protruding tongue Broad palm Abnormality of the immune system Abnormality of the thyroid gland Hemiplegia/hemiparesis Self-injurious behavior Proportionate short stature Drowsiness Open bite Adrenal hypoplasia Abnormality of immune system physiology Impulsivity Hoarse voice Retinal detachment Sinusitis Congenital nephrotic syndrome Narrow nasal ridge Mandibular prognathia Diaphragmatic eventration Diffuse mesangial sclerosis Hyperactivity Hyporeflexia Areflexia Malar flattening Axial dystonia Abnormality of the intervertebral disk Behavioral abnormality Deeply set eye Albuminuria Peripheral neuropathy Encephalomalacia Hypoplasia of the ear cartilage Sensorineural hearing impairment Laryngospasm Thyroid dysgenesis Projectile vomiting Scoliosis Hearing impairment Pes planus Conductive hearing impairment Stereotypy Paresthesia Broad-based gait Otitis media Esotropia Tubular atrophy Microcornea Recurrent ear infections Diffuse cerebral atrophy Small hand Short palm Falls Dry skin Hand clenching Synophrys Aqueductal stenosis Spastic ataxia Lethargy Microtia Paralysis Intellectual disability, moderate Aggressive behavior Abnormal renal physiology Anxiety Periorbital edema Abnormal renal morphology Enuresis Everted upper lip vermilion Wrist swelling Nephrocalcinosis Nephrolithiasis Epistaxis Abnormal bleeding Metabolic acidosis Lactic acidosis Delayed puberty Carcinoma Recurrent respiratory infections Myopathy Osteolysis involving tarsal bones Carpal osteolysis Pancreatitis Metatarsal osteolysis Metacarpal osteolysis Ankle swelling Hypertensive retinopathy Azotemia Ulnar deviation of the hand or of fingers of the hand Ulnar deviation of the hand Juvenile rheumatoid arthritis Abnormality of the wrist Slender long bone Rheumatoid arthritis Hyperlipidemia Atherosclerosis Osteolysis Enterocolitis Hepatocellular adenoma Lipemia retinalis Distal renal tubular acidosis Chronic pancreatitis Chronic hepatitis Hepatoblastoma Decreased glomerular filtration rate Intermittent diarrhea Xanthelasma Microalbuminuria Hypoglycemic seizures Skeletal myopathy Venous thrombosis Fasting hypoglycemia Breathing dysregulation Neoplasm of the liver Xanthomatosis Gout Enlarged kidney Hepatocellular carcinoma Renal tubular acidosis Prolonged bleeding time Decreased muscle mass Portal hypertension Hypercalciuria Cachexia EMG abnormality Velopharyngeal insufficiency Autoimmunity Discoid lupus rash Macroscopic hematuria IgA deposition in the glomerulus Membranoproliferative glomerulonephritis Facial erythema Microscopic hematuria Glomerulopathy Glomerulonephritis Systemic lupus erythematosus Meningitis Skin rash Erythema Decreased serum complement factor I Immunodeficiency Sleep-wake inversion Frequent temper tantrums Head-banging Abnormality of the forearm Abnormal tracheobronchial morphology Morphological abnormality of the middle ear Premature atrial contractions Hyperacusis Mood changes Excessive daytime sleepiness Loss of eyelashes Hydronephrosis Interphalangeal joint contracture of finger Mild proteinuria Hypoplasia of the maxilla Downturned corners of mouth Pulmonic stenosis Corneal opacity Proptosis Nocturnal lagophthalmos Abnormal facial expression Encopresis Urethral valve Urethral obstruction Enuresis nocturna Urethral stenosis Sepsis Facial grimacing Urinary retention Neurogenic bladder Wolff-Parkinson-White syndrome Dysuria Keratoconjunctivitis sicca Hydroureter Polyuria Clubbing Polydipsia Urinary incontinence Vesicoureteral reflux Hypoplasia of the brainstem Transient neonatal diabetes mellitus Hypoalbuminemia Broad toe Skeletal dysplasia Rod-cone dystrophy Visual loss Depressivity Respiratory insufficiency Short neck Malformation of the hepatic ductal plate Broad distal phalanges of all fingers Incisional hernia Renal magnesium wasting Tubulointerstitial abnormality Low-set, posteriorly rotated ears Short nail Interstitial pneumonitis Thin nail Abnormality of the abdominal wall Abnormal diaphysis morphology Hepatic cysts Sagittal craniosynostosis Slow-growing hair Abnormal toenail morphology Elevated serum creatinine Umbilical hernia Scarring Tubulointerstitial nephritis Cone-shaped epiphysis Hypoplasia of the capital femoral epiphysis Pancreatic cysts Congenital hepatic fibrosis Cholangitis Thoracic dysplasia Recurrent lower respiratory tract infections Prominent metopic ridge Abnormal retinal morphology Nephronophthisis Short femoral neck Trigonocephaly Smooth philtrum Wide anterior fontanel Exotropia Short phalanx of finger Renal dysplasia Cholestasis Sparse scalp hair Bifid uvula Renal cyst Postaxial polydactyly Abnormality of skin pigmentation Retinal degeneration Anodontia Taurodontia Frontal upsweep of hair Spastic diplegia Respiratory failure Pectus excavatum Congestive heart failure Abnormality of the skeletal system Bitemporal hollowing Type I lissencephaly Decerebrate rigidity Agyria Premature skin wrinkling Infantile spasms Deep philtrum Joint laxity Infantile muscular hypotonia Spastic gait Wide nose Flat face Paraplegia Spastic paraplegia Thin upper lip vermilion Agenesis of corpus callosum Atrial septal defect Dysphagia Downslanted palpebral fissures Photophobia Protruding ear Fibular hypoplasia Hypocalcemia Short humerus High hypermetropia Thoracic hypoplasia Abnormality of dental morphology Cupped ear Radial deviation of finger Redundant skin Bicuspid aortic valve Abnormality of the fingernails Abnormality of dental enamel Short toe Sparse hair Rhizomelia Fine hair Limb undergrowth Ectodermal dysplasia Hypodontia Everted lower lip vermilion High, narrow palate Joint hyperflexibility Narrow chest Dolichocephaly Finger syndactyly Accessory oral frenulum Aplasia of the middle phalanx of the hand Adducted thumb Microphthalmia Abnormality of the foot Severe global developmental delay Small for gestational age Prominent nasal bridge Abnormality of the eye Muscular hypotonia of the trunk Macrotia Cerebellar hypoplasia Absent speech Cerebral atrophy Dystonia Poor speech Vomiting Cerebellar atrophy Hydrocephalus Talipes equinovarus Optic atrophy Hyperreflexia Flexion contracture Ivory epiphyses of the toes Irregular tarsal ossification Intracerebral periventricular calcifications Ivory epiphyses of the phalanges of the hand Abnormality of eye movement Talipes Reduced pancreatic beta cells Oligohydramnios Hyperkinesis Severe muscular hypotonia Opacification of the corneal stroma Aspiration Progressive microcephaly Postnatal microcephaly Small nail Hypsarrhythmia Spastic tetraplegia Nephrotic syndrome Sloping forehead Arachnodactyly Dandy-Walker malformation Prominent nose Premature birth Delayed myelination Brain atrophy Chorea Gliosis Tetraplegia Ascites Hypopigmentation of the skin Inability to walk Abnormality of pancreas morphology Irregular carpal bones Short proximal phalanx of finger Genu valgum Hyperglycemia Epiphyseal dysplasia Wormian bones Type I diabetes mellitus Coxa valga Blue sclerae Dehydration Recurrent fractures Coma Neutropenia Hypermetropia Spondyloepiphyseal dysplasia Platyspondyly Hip dislocation Joint stiffness Hepatosplenomegaly Jaundice Weight loss Diabetes mellitus Severe short stature Delayed skeletal maturation Kyphosis Absence of renal corticomedullary differentiation Preauricular pit Neurodevelopmental delay Bilateral coxa valga Enlarged thorax Shortening of all middle phalanges of the fingers Chronic hepatic failure Atlantoaxial dislocation Decreased hip abduction Hip subluxation Pancreatic hypoplasia Central hypothyroidism Narrow iliac wings Thoracolumbar kyphosis Carpal bone hypoplasia Small epiphyses Steatorrhea Thin bony cortex Multiple epiphyseal dysplasia Acute hepatic failure Barrel-shaped chest Renal tubular dysfunction Ketoacidosis Irregular vertebral endplates Insulin-resistant diabetes mellitus Exocrine pancreatic insufficiency Hypoplasia of the odontoid process Glycosuria Hypocitraturia


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