Failure to thrive, and Renal dysplasia

Diseases related with Failure to thrive and Renal dysplasia

In the following list you will find some of the most common rare diseases related to Failure to thrive 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

COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11 Is also known as coxpd11|encephaloneuromyopathy, infantile, due to mitochondrial translation defect

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 11

ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION Is also known as syndromic bile duct paucity due to a notch2 point mutation|arteriohepatic dysplasia due to a notch2 point mutation|alagille-watson syndrome due to a notch2 point mutation

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALAGILLE SYNDROME DUE TO A NOTCH2 POINT MUTATION

Other less relevant matches:

Joubert syndrome is a genetically heterogeneous autosomal recessive disorder characterized by a specific hindbrain malformation, which is referred to as the 'molar tooth sign' (MTS) on brain MRI, hypotonia, developmental delay, oculomotor apraxia, and breathing abnormalities. The complex brainstem malformation consists of cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (Maria et al., 1997). Additional features sometimes associated with Joubert syndrome include retinal anomalies, polydactyly, hepatic fibrosis, and renal disease. These related disorders are often referred to as 'cerebellooculorenal syndromes' (CORSs) (Chance et al., 1999; Satran et al., 1999).

JOUBERT SYNDROME 2; JBTS2 Is also known as cors2|cerebellooculorenal syndrome 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Hypertelorism


SOURCES: MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME 2; JBTS2

Oral-facial-digital syndrome, type 4 is characterized by lingual hamartoma, postaxial polysyndactyly of hands and feet, and mesomelic shortening of the legs with supinate equinovarus feet.

OROFACIODIGITAL SYNDROME TYPE 4 Is also known as oral-facial-digital syndrome, type iv|ofd syndrome with tibial defects|ofd syndrome, baraitser-burn type|mohr-majewski syndrome|ofds iv|oral-facial-digital syndrome type 4|ofd4|baraitser-burn syndrome

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 4

Marden-Walker syndrome (MWS) is a malformation syndrome characterized by multiple joint contractures (arthrogryposis), a mask-like face with blepharophimosis, micrognathia, high-arched or cleft palate, low-set ears, decreased muscular bulk, kyphoscoliosis and arachnodactyly.

MARDEN-WALKER SYNDROME Is also known as mws

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about MARDEN-WALKER SYNDROME

Joubert syndrome with orofaciodigital defect (or oral-facial-digital syndrome type 6, OFD6) is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with orofacial anomalies and often polydactyly.

OROFACIODIGITAL SYNDROME TYPE 6 Is also known as vÁradi syndrome|polydactyly-cleft lip/palate-psychomotor retardation syndrome|polydactyly, cleft lip/palate or lingual lump, and psychomotor retardation|vÁradi-papp syndrome|joubert syndrome with orofaciodigital defect|oral-facial-digital syndrome type 6|

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME TYPE 6

Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.

JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY Is also known as jbts with jatd|joubert syndrome with jatd

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY

VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Top 5 symptoms//phenotypes associated to Failure to thrive and Renal dysplasia

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Feeding difficulties Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Failure to thrive and Renal dysplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears Renal cyst Renal insufficiency Seizures Muscular hypotonia Dandy-Walker malformation Growth delay Micrognathia Abnormal facial shape Cleft palate Epicanthus Polydactyly Postaxial polydactyly Abnormality of the kidney Pulmonary hypoplasia Renal agenesis High palate Ventricular septal defect Oculomotor apraxia Hydrocephalus Frontal bossing Depressed nasal bridge Ataxia Abnormal heart morphology Abnormal cerebellum morphology Short stature Molar tooth sign on MRI Occipital encephalocele Tachypnea Low-set, posteriorly rotated ears Anemia Respiratory tract infection Hypospadias Cryptorchidism Preaxial hand polydactyly Abnormal corpus callosum morphology Renal hypoplasia/aplasia Posteriorly rotated ears Agenesis of corpus callosum Abnormality of cardiovascular system morphology Intrauterine growth retardation Brachydactyly Accessory oral frenulum Renal hypoplasia Talipes equinovarus Abnormality of the outer ear Hepatomegaly Hydronephrosis Acidosis Microcephaly Areflexia Absent speech Dysphagia Respiratory failure Polyhydramnios Myopathy

Rare Symptoms - Less than 30% cases

Neonatal hypotonia Toe syndactyly Talipes Anal atresia Oral cleft Lethargy Premature birth High, narrow palate Specific learning disability Ambiguous genitalia Interphalangeal joint contracture of finger Choanal atresia Short ribs Laryngomalacia Hand polydactyly Finger syndactyly Retrognathia Camptodactyly of finger Acute kidney injury Postaxial hand polydactyly Apraxia Encephalocele Hepatic fibrosis Hypoplasia of the brainstem Hearing impairment Elongated superior cerebellar peduncle Cleft lip Episodic tachypnea Dysgenesis of the cerebellar vermis Pectus excavatum Clinodactyly Recurrent respiratory infections Severe short stature Conductive hearing impairment Hamartoma Abnormal oral frenulum morphology Submucous cleft hard palate Syndactyly Abnormality of the sternum Absent septum pellucidum Colpocephaly Abnormality of the genital system Fever Tremor Gait disturbance Apnea Radioulnar synostosis Congestive heart failure Cerebellar vermis hypoplasia Flexion contracture Polycystic kidney dysplasia Preaxial polydactyly Meningocele Renal cortical cysts Elevated hepatic transaminase Dextrocardia Multicystic kidney dysplasia Foot polydactyly Motor delay Rectovaginal fistula Esotropia Lobulated tongue Hamartoma of tongue Tongue nodules Perineal fistula Scoliosis Strabismus Ventriculomegaly Situs inversus totalis Intellectual disability, severe Inguinal hernia Cerebellar hypoplasia Micropenis Postnatal growth retardation Abnormality of the pinna Short nose Wide anterior fontanel Hypertension Bifid uvula Increased serum lactate Abnormal cardiac septum morphology Cerebral atrophy Nystagmus Encephalopathy Decreased liver function Hepatic steatosis Cardiomyopathy Macrocephaly Hypoplasia of the corpus callosum Tetralogy of Fallot Atrial septal defect Pachygyria Patent ductus arteriosus Abnormality of the foot Lactic acidosis Cerebral cortical atrophy Short neck Retinopathy Respiratory insufficiency Jaundice Arthrogryposis multiplex congenita Renal tubular acidosis Retinal dystrophy Microphthalmia Camptodactyly Abnormality of the liver Triphalangeal thumb Transposition of the great arteries Non-midline cleft lip Medulloblastoma Proximal tubulopathy Tracheoesophageal fistula Vertebral segmentation defect Episodic vomiting Ectopic kidney Loss of ability to walk Hypoplastic left heart Right bundle branch block Abnormality of the renal tubule Bundle branch block Unilateral renal agenesis Bifid scrotum Cataplexy Wheezing Duodenal atresia Electron transfer flavoprotein-ubiquinone oxidoreductase defect Tethered cord Cavernous hemangioma Excessive daytime somnolence Ureteropelvic junction obstruction Abnormality of female internal genitalia Abnormality of the pancreas Chronic fatigue Organic aciduria Atelectasis Tracheal stenosis Absent radius Single umbilical artery Limb tremor Hypoketotic hypoglycemia Exercise-induced myalgia Hypoplasia of the radius Missing ribs Aplasia/Hypoplasia of the lungs Esophageal atresia Anencephaly Aplasia/Hypoplasia of the radius Impaired mastication Acute pancreatitis Omphalocele Hemivertebrae Duane anomaly Nonketotic hypoglycemia Open operculum Subretinal deposits Small cervical vertebral bodies Rhizomelic arm shortening Dilated third ventricle Cervical spinal canal stenosis Abnormality of the acetabulum Proximal femoral metaphyseal irregularity Short digit Abnormality of the optic disc Early ossification of capital femoral epiphyses Recurrent aspiration pneumonia Long clavicles Hyperechogenic kidneys Abnormality of the basal ganglia Redundant neck skin Dilation of lateral ventricles Chronic lung disease Enlarged cisterna magna Bell-shaped thorax Thoracic hypoplasia Rhizomelic leg shortening Hypoglycemic coma Respiratory arrest Hypoplasia of penis Spina bifida Preauricular skin tag Abnormal vertebral morphology Short thumb Large fontanelles Recurrent urinary tract infections Generalized aminoaciduria Small nail Abnormality of the ribs Congenital diaphragmatic hernia Oliguria Twelfth rib hypoplasia Glutaric aciduria Progressive spastic quadriplegia Personality disorder Intestinal malrotation Vesicoureteral reflux Tachycardia Facial asymmetry Pneumonia Aplasia/Hypoplasia involving bones of the thorax Abnormality of the 5th metacarpal Ketonuria Abnormality of the intervertebral disk Supernumerary ribs Hypersarcosinemia Arthralgia of the hip Glutaric acidemia Increased muscle lipid content Ketotic hypoglycemia Elevated plasma acylcarnitine levels Reduced protein C activity Reye syndrome-like episodes Ethylmalonic aciduria Overfolded helix Anorexia Leukodystrophy Proximal muscle weakness Fatigable weakness of distal limb muscles Difficulty walking Clonus Arthralgia Cardiac arrest Type I diabetes mellitus Fatigable weakness of neck muscles Exercise intolerance High forehead Scapular winging Pancreatitis Hypoglycemia Myalgia Spastic tetraparesis Coma Cardiomegaly Tetraparesis Heterotopia Waddling gait Aciduria Gliosis Left ventricular hypertrophy Generalized muscle weakness Tetraplegia Muscle cramps Metabolic acidosis Telecanthus Nausea Joint hyperflexibility Limb muscle weakness Narcolepsy Nausea and vomiting Gastrointestinal inflammation Congenital cataract Abnormality of the cerebral white matter Dilated cardiomyopathy Hyperlordosis Hypertrophic cardiomyopathy Dyspnea Hyperammonemia Abnormal sacrum morphology Abnormality of the gallbladder Glycosuria Rhabdomyolysis Pain Fatigable weakness Muscle weakness Patent urachus Drowsiness Asymmetric crying face Abnormal tracheobronchial morphology Potter facies Hemifacial hypoplasia Cataract Myoglobinuria Ketosis Progressive proximal muscle weakness Cardiorespiratory arrest Absence of the sacrum Anorectal anomaly Abnormality of the urethra Lower limb undergrowth Vertebral clefting Laryngeal stenosis Abnormality of the nasopharynx Difficulty climbing stairs Spasticity Weight loss Hemiplegia Ragged-red muscle fibers Mutism Gait ataxia Poor head control Easy fatigability Abnormality of branched chain family amino acid metabolism Elevated serum creatine phosphokinase Slurred speech Arrhythmia Depressivity Back pain Headache Dysarthria Stridor Behavioral abnormality Diarrhea Vomiting Defective dehydrogenation of isovaleryl CoA and butyryl CoA Ventricular fibrillation Edema Restrictive ventilatory defect Hepatic periportal necrosis Respiratory distress Fatigue Supernumerary nipple Arachnodactyly Cone-shaped epiphysis Peripheral pulmonary artery stenosis Patent foramen ovale Abnormal electroretinogram Dolichocephaly Coloboma Craniosynostosis Blindness Visual impairment Axenfeld anomaly Dark urine Butterfly vertebrae Cholestatic liver disease External genital hypoplasia Wolff-Parkinson-White syndrome Pulmonary artery stenosis Poor coordination Exocrine pancreatic insufficiency Posterior embryotoxon Long nose Heart murmur Rickets Pointed chin Increased body weight Chorioretinal coloboma Nephronophthisis Coarctation of aorta Neonatal breathing dysregulation Decreased testicular size Wide nose Micromelia Abnormality of eye movement Short philtrum Skeletal dysplasia Proptosis Noncommunicating hydrocephalus Enlarged fossa interpeduncularis Thickened superior cerebellar peduncle Brainstem dysplasia Congenital blindness Hypoplastic male external genitalia Abnormality of ocular smooth pursuit Metopic synostosis Abnormal saccadic eye movements Rotary nystagmus Abnormal renal physiology Agenesis of cerebellar vermis Central apnea Optic nerve coloboma Impaired smooth pursuit Cholestasis Pigmentary retinopathy Oligohydramnios Skin erosion Epileptic encephalopathy Delayed myelination Myoclonus Hyporeflexia Peripheral neuropathy Congenital pyloric atresia Aplasia of the bladder Abnormality of the stomach Ureterocele Oral mucosal blisters Aplasia cutis congenita Severe muscular hypotonia Fragile skin Skin vesicle Glomerulosclerosis Dehydration Abnormal blistering of the skin Underdeveloped nasal alae Limitation of joint mobility Sepsis Microtia Deeply set eye Fasciculations CNS hypomyelination Cyanosis Proteinuria Triangular face Hematuria Hepatic failure Cirrhosis Malabsorption Pulmonic stenosis Pruritus Broad forehead Stroke Scarring Mandibular prognathia Chronic kidney disease Splenomegaly Abnormality of the skeletal system Cognitive impairment Microvesicular hepatic steatosis Tongue fasciculations Breech presentation Increased CSF lactate Hypoventilation Hyperkalemia Hyponatremia Failure to thrive in infancy Limb undergrowth Depressed nasal ridge Increased intracranial pressure Aplasia/Hypoplasia involving the skeletal musculature Highly arched eyebrow Long face Cleft upper lip Prominent nasal bridge Feeding difficulties in infancy Abnormality of the nervous system Hernia Dilatation Abnormal anatomic location of the heart Fixed facial expression Inferior vermis hypoplasia Finger clinodactyly Zollinger-Ellison syndrome Abnormality of the penis Abnormality of the cerebellar vermis Congenital ptosis Limb joint contracture Epispadias Primitive reflex Abnormality of the upper urinary tract Distal arthrogryposis Restlessness Broad nasal tip Aplasia/Hypoplasia of the corpus callosum Hydroureter Bulimia Wide intermamillary distance Gastroesophageal reflux Visual loss Myopia Central Y-shaped metacarpal Midline notch of upper alveolar ridge Y-shaped metacarpals Occipital meningocele Mesoaxial hand polydactyly Hypoplasia of olfactory tract Hypothalamic hamartoma Trigonocephaly Mesoaxial polydactyly Preaxial foot polydactyly Short femur Biparietal narrowing Partial agenesis of the corpus callosum Tibial bowing Abnormal retinal morphology Abnormality of neuronal migration Bilateral cryptorchidism Radial deviation of finger Decreased muscle mass Metatarsus adductus Split hand Abnormality of the tongue Aplasia/Hypoplasia of the mandible Bilateral lung agenesis Rectal atresia Absent testis Cerebral cortical hemiatrophy Aplasia/Hypoplasia of the tibia Abnormality of the gingiva Abnormal oral mucosa morphology Subcortical cerebral atrophy Porencephalic cyst Short tibia Microtia, third degree Median cleft lip Primary adrenal insufficiency Abnormal joint morphology Short finger Abnormality of the ear Mesomelia Hypoplastic toenails Genu varum Joint dislocation Bowing of the long bones Oral synechia Monorchism Mask-like facies Pectus carinatum Myotonia Congenital contracture Pyloric stenosis Abnormality of the urinary system Joint contracture of the hand Abnormality of the face Abnormal form of the vertebral bodies Short palpebral fissure Peripheral demyelination Muscular dystrophy Attention deficit hyperactivity disorder Absent crus of helix Blepharophimosis Joint stiffness Aggressive behavior Kyphoscoliosis Narrow mouth Hyperactivity Long philtrum Kyphosis Anteverted nares Skeletal muscle atrophy Ptosis Abnormality of blood glucose concentration


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Fever and Bradycardia, related diseases and genetic alterations Lymphoma and Eczema, related diseases and genetic alterations Depressed nasal bridge and Irritability, related diseases and genetic alterations Obesity and Joint stiffness, related diseases and genetic alterations