Edema, and Hydronephrosis

Diseases related with Edema and Hydronephrosis

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

Top matches:

Related symptoms:

  • Ventricular septal defect
  • Edema
  • Atrial septal defect
  • Hernia
  • Inguinal hernia


SOURCES: OMIM MESH MENDELIAN

More info about CARDIAC VALVULAR DEFECT, DEVELOPMENTAL; CVDD

Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported.

LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2 Is also known as multiple contracture syndrome, israeli-bedouin type|lccs2|multiple contracture syndrome, israeli bedouin type a

Related symptoms:

  • Micrognathia
  • Flexion contracture
  • Myopia
  • Skeletal muscle atrophy
  • Ventricular septal defect


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL CONGENITAL CONTRACTURE SYNDROME TYPE 2

Nephrogenic diabetes insipidus (NDI) is characterized by polyuria with polydipsia, recurrent bouts of fever, constipation, and acute hypernatremic dehydration after birth that may cause neurological sequelae. Polyuria may exceed 10 litres in children.

NEPHROGENIC DIABETES INSIPIDUS Is also known as ndi|diabetes insipidus, nephrogenic, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEPHROGENIC DIABETES INSIPIDUS

Other less relevant matches:

McKusick-Kaufman syndrome is an autosomal recessive disorder characterized by genitourinary malformations, especially hydrometrocolpos, polydactyly, and, more rarely, heart or gastrointestinal malformations (summary by Schaefer et al., 2011).

MCKUSICK-KAUFMAN SYNDROME; MKKS Is also known as hydrometrocolpos syndrome|kaufman-mckusick syndrome|hmcs|hydrometrocolpos, postaxial polydactyly, and congenital heart malformation

Related symptoms:

  • Cryptorchidism
  • Abnormality of the skeletal system
  • Respiratory distress
  • Edema
  • Syndactyly


SOURCES: OMIM MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME; MKKS

Medium match NETHERTON SYNDROME

Netherton syndrome (NS) is a skin disorder characterized by congenital ichthyosiform erythroderma (CIE), a distinctive hair shaft defect (trichorrhexis invaginata; TI) and atopic manifestations.

NETHERTON SYNDROME Is also known as erythroderma, ichthyosiform, with hypotrichosis and hyper-ige|comÈl-netherton syndrome|bamboo hair syndrome|comel-netherton syndrome|ns|netherton disease

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NETHERTON SYNDROME

Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia.

EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA Is also known as ebs with pyloric atresia|ebs-pa

Related symptoms:

  • Failure to thrive
  • Anemia
  • Flexion contracture
  • Dysphagia
  • Short nose


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA

Renal coloboma syndrome (RCS) is a genetic condition characterized by optic nerve dysplasia and renal hypodysplasia.

RENAL COLOBOMA SYNDROME Is also known as renal-coloboma syndrome|congenital anomalies of the kidney and urinary tract with or without ocular abnormalities|optic coloboma, vesicoureteral reflux, and renal anomalies|papillo-renal syndrome|coloboma of optic nerve with renal disease|renal-coloboma s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about RENAL COLOBOMA SYNDROME

Cutis laxa is a collection of disorders that are typified by loose and/or wrinkled skin that imparts a prematurely aged appearance. Face, hands, feet, joints, and torso may be differentially affected. The skin lacks elastic recoil, in marked contrast to the hyperelasticity apparent in classic Ehlers-Danlos syndrome (see {130000}). These properties are nearly always attributable to loss, fragmentation, or severe disorganization of dermal elastic fibers (summary by Davidson and Giro, 2002).Patients with autosomal recessive cutis laxa type IC exhibit generalized cutis laxa in association with impaired pulmonary, gastrointestinal, genitourinary, musculoskeletal, and dermal development (summary by Callewaert et al., 2013).For general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES Is also known as urban-rifkin-davis syndrome|arcl1c|autosomal recessive cutis laxa type 1c|urds|cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Depressed nasal bridge


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CUTIS LAXA WITH SEVERE PULMONARY, GASTROINTESTINAL AND URINARY ANOMALIES

Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

Baraitser-Winter syndrome (BWS) is a malformation syndrome, characterized by facial dysmorphism (hypertelorism with ptosis, broad bulbous nose, ridged metopic suture, arched eyebrows, progressive coarsening of the face), ocular coloboma, pachygyria and/or band heterotopias with antero-posterior gradient, progressive joint stiffening, and intellectual deficit of variable severity, often with severe epilepsy. Pachygyria - epilepsy - intellectual disability - dysmorphism (Fryns-Aftimos syndrome (FA); see this term) corresponds to the appearance of BWS in elderly patients.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BARAITSER-WINTER CEREBROFRONTOFACIAL SYNDROME

Top 5 symptoms//phenotypes associated to Edema and Hydronephrosis

Symptoms // Phenotype % cases
Growth delay Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Hydroureter Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Edema and Hydronephrosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Short stature Dehydration Polyhydramnios Respiratory failure Micrognathia Ventricular septal defect Hydrops fetalis Patent foramen ovale

Rare Symptoms - Less than 30% cases

Retrognathia Renal dysplasia Anemia Optic nerve coloboma Emphysema Feeding difficulties Fever Renal insufficiency Hypertelorism Hypernatremia Hypernatremic dehydration Wide nasal bridge Depressed nasal bridge Respiratory distress Pulmonary hypoplasia Thin vermilion border Joint laxity Wide mouth Long philtrum Cutis laxa Sepsis Asthma Large fontanelles Premature skin wrinkling Abnormality of the kidney Hernia Flexion contracture Atrial septal defect Myopia Inguinal hernia Generalized hypotonia Duplication of thumb phalanx Retinoschisis Cerebral cortical hemiatrophy Prominent nose Ureterovesical junction obstruction Macrogyria Macular hyperpigmentation Orbital cyst Morning glory anomaly Renal malrotation Scleral staphyloma Optic nerve dysplasia Recurrent pyelonephritis Malar flattening Subcortical cerebral atrophy Sloping forehead Sandal gap Depressed nasal tip Heterochromia iridis Microretrognathia Echolalia Recurrent urinary tract infections Congenital diaphragmatic hernia Convex nasal ridge Bilateral renal hypoplasia Sparse hair Umbilical hernia Abnormality of the upper urinary tract Macrotia Gastroesophageal reflux Midface retrusion Dilatation Mild proteinuria Platybasia Lens luxation Vesicoureteral reflux Multicystic kidney dysplasia Horseshoe kidney Nephrolithiasis Abnormality of the genital system Renal hypoplasia Progressive visual loss Gliosis Abnormality of the genitourinary system Retinal detachment Nephropathy Stage 5 chronic kidney disease Confusion Joint hyperflexibility Coloboma Macular degeneration Chronic kidney disease Laryngomalacia Elevated serum creatinine Pyelonephritis Ureteropelvic junction obstruction High-frequency hearing impairment Retinal coloboma Osteochondrosis Hydrocele testis Multiple renal cysts Hyperextensible skin Abnormality of the vasculature Soft skin Arnold-Chiari type I malformation Severe vision loss Chorioretinal atrophy Visual field defect Nephritis Short columella Prematurely aged appearance Pyloric stenosis Dysphasia Cerebral cortical atrophy Short neck Downslanted palpebral fissures Epicanthus Ptosis Scoliosis Microcephaly Coarse facial features Abnormality of glutamine metabolism Long nose Increased serum bile acid concentration Abnormality of the clitoris Infra-orbital crease Long palpebral fissure Skeletal dysplasia Telecanthus Micronodular cirrhosis Trigonocephaly Specific learning disability Low posterior hairline Pachygyria Pointed chin Lissencephaly Mutism Full cheeks Joint stiffness Delayed cranial suture closure Microcornea Highly arched eyebrow Iris coloboma Wide nose Aphasia Polymicrogyria Functional respiratory abnormality Biventricular hypertrophy Webbed neck Abnormal facial shape Patent ductus arteriosus Thrombocytopenia Splenomegaly Intrauterine growth retardation Hepatomegaly Low-set ears Bronchomalacia Palpebral edema Rectal prolapse Periorbital edema Bladder diverticulum Peripheral pulmonary artery stenosis Transient ischemic attack Pulmonary artery stenosis Tracheomalacia Hepatosplenomegaly Short philtrum Dextrocardia Wide anterior fontanel Clitoral hypertrophy Poor suck Deep philtrum Situs inversus totalis Prominent metopic ridge Decreased liver function Hepatic fibrosis Small for gestational age Telangiectasia Pancytopenia Coarctation of aorta Oligohydramnios Abnormal bleeding Triangular face Cirrhosis Synophrys Oral mucosal blisters Proteinuria Syndactyly Anal atresia Micropenis Polydactyly Rod-cone dystrophy Hypospadias Obesity Abnormality of cardiovascular system morphology Abnormality of the skeletal system Abdominal distention Cryptorchidism Hypertonic dehydration Functional abnormality of the bladder Unexplained fevers Megacystis Hyposthenuria Nocturia Postaxial polydactyly Amenorrhea Nephrogenic diabetes insipidus Tracheoesophageal fistula Penoscrotal hypospadias Chordee Vaginal atresia Rectovaginal fistula Nonimmune hydrops fetalis Edema of the lower limbs Esophageal atresia Polycystic kidney dysplasia Tetralogy of Fallot Congenital hip dislocation Abnormal vertebral morphology Lymphedema Aganglionic megacolon Choanal atresia Primary amenorrhea Postaxial hand polydactyly Enuresis nocturna Hypovolemia Transverse vaginal septum Pulmonary artery atresia Facial palsy Respiratory insufficiency Skeletal muscle atrophy Urethral diverticulum Tricuspid atresia Arteria lusoria Tricuspid valve prolapse Mitral stenosis Arthrogryposis multiplex congenita Tricuspid regurgitation Spontaneous abortion Mitral regurgitation Mitral valve prolapse Cyanosis Pulmonic stenosis Abnormal cardiac septum morphology Dilated cardiomyopathy Decreased fetal movement Pollakisuria Constipation Diabetes insipidus Polyuria Polydipsia Anorexia Nausea and vomiting Irritability Feeding difficulties in infancy Vomiting High myopia Degenerative vitreoretinopathy Multiple pterygia Limb joint contracture Vitreoretinopathy Fetal akinesia sequence Akinesia Congenital contracture Pterygium Hydrometrocolpos Mesoaxial hand polydactyly Reduced visual acuity Dysphagia Abnormal blistering of the skin Underdeveloped nasal alae Premature birth Limitation of joint mobility Microtia Deeply set eye Short nose IgE-mediated food allergy Glomerulosclerosis Brittle scalp hair Immunologic hypersensitivity Angioedema Increased IgE level Allergic rhinitis Trichorrhexis nodosa Congenital nonbullous ichthyosiform erythroderma Abnormality of the outer ear Skin vesicle Verrucae Strabismus Glaucoma Microphthalmia Hydrocephalus Hypertension Visual impairment Cataract Sensorineural hearing impairment Nystagmus Fragile skin Hearing impairment Congenital pyloric atresia Aplasia of the bladder Abnormality of the stomach Ureterocele Skin erosion Aplasia cutis congenita Allergy Villous atrophy Prominent scrotal raphe Pruritus Sparse scalp hair Fine hair Eczema Decreased antibody level in blood Ichthyosis Dry skin Malabsorption Skin rash Sparse and thin eyebrow Weight loss Recurrent respiratory infections Alopecia Recurrent infections Hydrocolpos Pelvic mass Vesicovaginal fistula Inflammatory abnormality of the skin Abnormality of the hair Hypothermia Erythroderma Severe postnatal growth retardation Atopic dermatitis Irregular hyperpigmentation Congenital ichthyosiform erythroderma Abnormality of the musculature Ectopic kidney Malnutrition Psoriasiform dermatitis Aminoaciduria Scaling skin Intracranial hemorrhage Brittle hair Urticaria Recurrent skin infections Abnormal intestine morphology Acanthosis nigricans Sparse eyelashes Euryblepharon


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