Edema, and Renal dysplasia

Diseases related with Edema and Renal dysplasia

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

Top matches:

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

Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema.

CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY Is also known as congenital chronic diarrhea with exudative enteropathy

Related symptoms:

  • Pain
  • Vomiting
  • Diarrhea
  • Acidosis
  • Metabolic acidosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL CHRONIC DIARRHEA WITH PROTEIN-LOSING ENTEROPATHY

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

Other less relevant matches:

Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate.

DIAPHANOSPONDYLODYSOSTOSIS Is also known as vertebral ossification, defect in, with nephrogenic rests

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Micrognathia
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about DIAPHANOSPONDYLODYSOSTOSIS

Low match MONOSOMY 22Q13

Monosomy 22q13 syndrome (deletion 22q13.3 syndrome or Phelan-McDermid syndrome) is a chromosome microdeletion syndrome characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features.

MONOSOMY 22Q13 Is also known as 22q13 deletion|phelan-mcdermid syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about MONOSOMY 22Q13

NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Phelan-McDermid syndrome is a developmental disorder with variable features. Common features include neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, autistic behavior (see {209850}), and minor dysmorphic features (Precht et al., 1998; Prasad et al., 2000; Durand et al., 2007).

PHELAN-MCDERMID SYNDROME; PHMDS Is also known as chromosome 22q13.3 deletion syndrome|telomeric 22q13 monosomy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PHELAN-MCDERMID SYNDROME; PHMDS

Townes-Brocks syndrome-1 (TBS1) is characterized by the triad of imperforate anus, dysplastic ears, and thumb malformations. Minor features of the condition include hearing loss, foot malformations, renal impairment with or without renal malformations, genitourinary malformations, and congenital heart disease (Webb et al., 2017). Genetic Heterogeneity of Townes-Brocks SyndromeTownes-Brocks syndrome-2 (TBS2 ) is caused by mutation in the DACT1 gene (OMIM ) on chromosome 14q23.

TOWNES-BROCKS SYNDROME 1; TBS1 Is also known as deafness, sensorineural, with imperforate anus and thumb anomalies|anus, imperforate, with hand, foot, and ear anomalies|renal-ear-anal-radial syndrome|rear syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about TOWNES-BROCKS SYNDROME 1; TBS1

Top 5 symptoms//phenotypes associated to Edema and Renal dysplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Hydronephrosis Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Epicanthus Vesicoureteral reflux Ptosis Pain Strabismus Renal insufficiency Abnormality of the kidney Abnormality of the pinna Deeply set eye Multicystic kidney dysplasia Low-set ears Muscular hypotonia Short nose Renal hypoplasia Macrocephaly Wide nasal bridge Recurrent pyelonephritis Generalized hypotonia Micrognathia Hypertelorism Clinodactyly of the 5th finger Sensorineural hearing impairment Hypertension Cleft palate Enlarged kidney Polycystic kidney dysplasia Short stature Agenesis of corpus callosum Abnormality of the outer ear Dolichocephaly Umbilical hernia Polyhydramnios Macrotia Gastroesophageal reflux

Rare Symptoms - Less than 30% cases

Depressed nasal ridge Short neck Lumbar hyperlordosis Renal cyst Dental malocclusion Pulmonary hypoplasia Inguinal hernia Facial asymmetry Respiratory distress Long eyelashes Depressed nasal bridge Talipes equinovarus Dental crowding Full cheeks Hypohidrosis Lymphedema Pointed chin Accelerated skeletal maturation Sacral dimple Recurrent skin infections Large hands 2-3 toe syndactyly Protuberant abdomen Sleep disturbance Microcephaly Arachnoid cyst Immunodeficiency Malar flattening Hyperactivity Delayed speech and language development Feeding difficulties Neonatal hypotonia Impaired pain sensation Autistic behavior Palpebral edema Hypermetropia Bruxism Cystic renal dysplasia Nausea and vomiting Cerebellar cortical atrophy Hair-pulling Bulbous nose Thick eyebrow Scoliosis Nephrogenic rest Neoplasm Nephroblastomatosis Ventricular septal defect Obesity Polysplenia Hypoplastic toenails Cryptorchidism Nephropathy Cataract Nephritis Nystagmus Anal atresia Vomiting Diarrhea Hepatomegaly Ascites Polydactyly Nephrolithiasis High, narrow palate Abnormality of the genital system Hernia Hypospadias Stage 5 chronic kidney disease Tall stature Abnormality of cardiovascular system morphology Specific learning disability Proteinuria Redundant skin Respiratory failure Microtia Sepsis Coloboma Glaucoma Hepatic fibrosis Myopia Multiple renal cysts Confusion Hyperlordosis Muscular hypotonia of the trunk Hepatosplenomegaly Retrognathia High forehead Nephroblastoma Prominent forehead Cerebral cortical hemiatrophy Rib fusion Oxycephaly Subcortical cerebral atrophy Lymphangioma Abnormality of the cerebellar vermis Pancreatic fibrosis Aplasia/Hypoplasia of the macula Posteriorly rotated ears Hypoplasia of the small intestine Hypoplastic colon Extrapulmonary sequestrum Abnormal facial shape Gait disturbance Anteverted nares Cerebral atrophy Smooth philtrum Prominent xiphoid process Motor delay Visceromegaly Congenital diaphragmatic hernia Cardiomegaly Status epilepticus Open mouth Bilateral single transverse palmar creases Tented upper lip vermilion Femoral hernia Interrupted aortic arch Growth abnormality Intestinal atresia Thickened helices Hypoxemia Volvulus Thick upper lip vermilion Renal neoplasm Capillary hemangioma Hyperinsulinemia Neurodevelopmental delay Global brain atrophy Hypoplasia of penis Abnormality of the cardiovascular system High palate Abnormality of pancreas morphology Cognitive impairment Flat face Large for gestational age Distal ileal atresia Ileal atresia Renal hamartoma Hypoplasia of the abdominal wall musculature Naevus flammeus of the eyelid Thymus hyperplasia Overgrowth Abdominal distention Fetal ascites Abnormality of upper lip Lumbar scoliosis Long upper lip Macroglossia Pancreatic islet-cell hyperplasia Round face Broad alveolar ridges Hamartoma Failure to thrive Ventriculomegaly Microretrognathia Preauricular pit Tracheoesophageal fistula Preaxial hand polydactyly Bifid scrotum Overfolded helix Chorioretinal coloboma Triphalangeal thumb Preaxial polydactyly Short metatarsal Preauricular skin tag Anal stenosis Abnormal vertebral morphology Short thumb Broad thumb Bilateral sensorineural hearing impairment Tetralogy of Fallot Toe syndactyly Small for gestational age Wide mouth Hypothyroidism Overlapping toe Truncus arteriosus Abnormal heart morphology Overfolding of the superior helices Satyr ear Aplasia/Hypoplasia of the 3rd toe 2-4 finger syndactyly Stahl ear Prominent scrotal raphe Pulmonary valve atresia Bilateral triphalangeal thumbs Rectoperineal fistula Metatarsal synostosis 3-4 toe syndactyly Duodenal atresia Urethral valve Bifid uterus 3-4 finger syndactyly Radial club hand Partial duplication of thumb phalanx Clinodactyly of the 5th toe Epibulbar dermoid Duane anomaly Rectovaginal fistula Abdominal pain Visual loss Atrial septal defect Constipation Hepatic failure Unsteady gait Protruding ear Irritability Intellectual disability, moderate Aggressive behavior Anxiety EEG abnormality Autism Broad neck Hepatitis Patent ductus arteriosus Absent speech Midface retrusion Recurrent infections Headache Long philtrum Intellectual disability, mild Behavioral abnormality Abnormality of the dentition Thick vermilion border Broad-based gait Clinodactyly Concave nasal ridge Syndactyly Hypoplasia of the corpus callosum Fulminant hepatic failure Tongue thrusting Hyperorality Toenail dysplasia Episodic vomiting Periorbital fullness Delayed CNS myelination Heat intolerance Chronic diarrhea Abnormality of the periventricular white matter Poor eye contact Weak cry Cellulitis Prominent supraorbital ridges Recurrent upper respiratory tract infections Poor head control Increased intracranial pressure Short chin Cerebral visual impairment Hyporeflexia Patellar hypoplasia Generalized hyperpigmentation Ureteropelvic junction obstruction Renal malrotation Scleral staphyloma Optic nerve dysplasia Mild proteinuria Bilateral renal hypoplasia Lens luxation Platybasia Pyelonephritis High-frequency hearing impairment Orbital cyst Retinal coloboma Optic nerve coloboma Hydrocele testis Elevated serum creatinine Abnormality of the vasculature Soft skin Arnold-Chiari type I malformation Severe vision loss Morning glory anomaly Macular hyperpigmentation Visual field defect Thoracic hypoplasia Enlarged thorax Disproportionate short-trunk short stature Hypoplastic fingernail Missing ribs Myelomeningocele Bell-shaped thorax Tracheomalacia Vertebral segmentation defect Short thorax Ureterovesical junction obstruction Hammertoe Large fontanelles Small nail Abnormality of the ribs Oligohydramnios Webbed neck Polymicrogyria Respiratory insufficiency Intrauterine growth retardation Chorioretinal atrophy Hyperextensible skin Narrow pelvis bone Fragile skin Acidosis Congenital pyloric atresia Aplasia of the bladder Abnormality of the stomach Ureterocele Oral mucosal blisters Skin erosion Aplasia cutis congenita Skin vesicle Hyperlipidemia Glomerulosclerosis Dehydration Abnormal blistering of the skin Underdeveloped nasal alae Premature birth Limitation of joint mobility Dysphagia Flexion contracture Metabolic acidosis Abnormal intestine morphology Chronic kidney disease Reduced visual acuity Abnormality of the genitourinary system Macular degeneration Horseshoe kidney Progressive visual loss Gliosis Retinal detachment Joint hyperflexibility Joint laxity Microphthalmia Hypercholesterolemia Hydrocephalus Visual impairment Intractable diarrhea Enterocolitis Protein-losing enteropathy Villous atrophy Malnutrition Hyponatremia Hypoalbuminemia Increased nuchal translucency Abnormal vertebral segmentation and fusion Cystic hygroma Thickening of the lateral border of the scapula Biceps aplasia Lester's sign Absence of pectoralis minor muscle Elongated radius Triceps aplasia Disproportionate prominence of the femoral medial condyle Quadriceps aplasia Stellate iris Hypoplastic radial head Spasticity Iliac horns Glenoid fossa hypoplasia Hypoplasia of first ribs Microphakia Deep-set nails Antecubital pterygium Absent distal interphalangeal creases Albuminuria Ataxia Brachydactyly Cervical ribs Postaxial hand polydactyly Macular dystrophy Premature graying of hair Hemivertebrae Muscle stiffness Hydrops fetalis Thickened skin Abnormality of the face Omphalocele Limb undergrowth Optic atrophy Hypopigmentation of the skin Postaxial polydactyly Micromelia Craniosynostosis Rigidity Upslanted palpebral fissure Recurrent respiratory infections Cerebellar hypoplasia Tremor Congenital nephrotic syndrome Microalbuminuria Absent or minimally ossified vertebral bodies Pes planus Hematuria Oral cleft Cleft upper lip Paresthesia Talipes Arthrogryposis multiplex congenita Nail dystrophy Cleft lip Osteoporosis Nail dysplasia Pectus excavatum Intralobar nephroblastomatosis Absent in utero ossification of vertebral bodies Unossified sacrum Absent in utero rib ossification Lumbosacral meningocele Abnormal liver lobulation Unossified vertebral bodies Microcornea Nephrotic syndrome Aplasia/Hypoplasia of the patella Patellar dislocation Anemia Concave nail Ridged nail Patellar aplasia Tubulointerstitial nephritis Raynaud phenomenon Blue irides Abnormality of the elbow Renal cell carcinoma Recurrent urinary tract infections Keratoconus Colon cancer Limited elbow extension Anonychia Glomerulonephritis Pterygium Abnormality of the urinary system Aortic regurgitation Spina bifida Pseudoepiphyses of second metacarpal


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