Failure to thrive, and Hydronephrosis

Diseases related with Failure to thrive and Hydronephrosis

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

Top matches:

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

GRIDHH is an autosomal recessive multisystem disorder characterized by intellectual disability, poor overall growth, hypotonia, and variable liver dysfunction. Additional features, such as seizures and hearing loss, may also be present (summary by Kopajtich et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GROWTH RETARDATION, INTELLECTUAL DEVELOPMENTAL DISORDER, HYPOTONIA, AND HEPATOPATHY; GRIDHH

Autosomal dominant mental retardation-42 is a neurodevelopmental disorder characterized by global developmental delay and intellectual disability. More variable features include hypotonia, often later associated with limb hypertonia, seizures of various types, and poor overall growth. Strabismus, cortical visual impairment, and autistic features may also be present (summary by Petrovski et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 42; MRD42

Other less relevant 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

Chronic idiopathic intestinal pseudoobstruction (CIIP) is caused by severe abnormality of gastrointestinal motility. Patients have recurrent symptoms and signs of intestinal obstruction without any mechanical lesion (Auricchio et al., 1996).Some primary forms of CIIP are caused by defects of enteric neuronal cells: see Hirschsprung disease (see, e.g., HSCR1; {142623}) and autosomal recessive visceral neuropathy (OMIM ) (Tanner et al., 1976).

INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED Is also known as intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement|ciipx|ipox|ciip, x-linked|congenital idiopathic intestinal pseudoobstruction|ciip

Related symptoms:

  • Seizures
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM MENDELIAN

More info about INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED

McKusick-Kaufman syndrome is a very rare, genetic developmental disorder presenting in the neonatal period characterized by genitourinary malformations, polydactyly, and more rarely, congenital heart disease or gastrointestinal malformations.

MCKUSICK-KAUFMAN SYNDROME Is also known as kaufman-mckusick syndrome|hydrometrocolpos-postaxial polydactyly syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET MENDELIAN

More info about MCKUSICK-KAUFMAN SYNDROME

Osteogenesis imperfecta is a connective tissue disorder characterized by bone fragility and low bone mass. OI type VII is an autosomal recessive form of severe or lethal OI (summary by Barnes et al., 2006).

OSTEOGENESIS IMPERFECTA, TYPE VII; OI7 Is also known as oi2b, formerly|osteogenesis imperfecta, type iib, formerly|oi, type vii

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Failure to thrive
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE VII; OI7

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

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

Prune belly syndrome is a rare congenital disorder, belonging to the group of fetal lower urinary tract obstructions (LUTO), involving variable dilation of the lower urinary tract in association with partial or complete absence of the lateral and inferior abdominal wall musculature and in males bilateral non-palpable undescended testes.

PRUNE BELLY SYNDROME Is also known as abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism|abdominal muscle deficiency syndrome|eagle-barret syndrome|eagle-barrett syndrome|triad syndrome|egbrs|obrinsky syndrome

Related symptoms:

  • Scoliosis
  • Failure to thrive
  • Cryptorchidism
  • Cognitive impairment
  • Ventricular septal defect


SOURCES: OMIM ORPHANET MENDELIAN

More info about PRUNE BELLY SYNDROME

Top 5 symptoms//phenotypes associated to Failure to thrive and Hydronephrosis

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Short stature Uncommon - Between 30% and 50% cases
Growth delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Patent ductus arteriosus Atrial septal defect Dehydration Ventricular septal defect

Rare Symptoms - Less than 30% cases

Volvulus Anemia Joint laxity Thrombocytopenia Round face Decreased liver function Abdominal distention Pectus excavatum Cleft palate Scoliosis Urogenital sinus anomaly Multicystic kidney dysplasia Abnormal facial shape Tetralogy of Fallot Anal atresia Sepsis Aganglionic megacolon Cutis laxa Intrauterine growth retardation Low-set ears Telangiectasia Cryptorchidism Oligohydramnios Wide anterior fontanel Intestinal malrotation Microcephaly Hypernatremia Fever Vomiting Renal insufficiency Constipation Polyhydramnios Feeding difficulties in infancy Recurrent respiratory infections Hydroureter Megacystis Asthma Generalized hypotonia Hearing impairment Hypernatremic dehydration Urticaria Angioedema Skin rash Weight loss Congenital nonbullous ichthyosiform erythroderma Trichorrhexis nodosa Acanthosis nigricans Alopecia Allergic rhinitis Increased IgE level Sparse eyelashes Immunologic hypersensitivity Malabsorption Brittle scalp hair IgE-mediated food allergy Depressed nasal bridge Hepatomegaly Sparse and thin eyebrow Edema Aminoaciduria Recurrent infections Pruritus Allergy Sparse scalp hair Ectopic kidney Inflammatory abnormality of the skin Intracranial hemorrhage Recurrent skin infections Scaling skin Fine hair Psoriasiform dermatitis Erythroderma Emphysema Eczema Malnutrition Abnormality of the musculature Abnormal intestine morphology Decreased antibody level in blood Congenital ichthyosiform erythroderma Irregular hyperpigmentation Atopic dermatitis Severe postnatal growth retardation Hypothermia Abnormality of the hair Villous atrophy Ichthyosis Verrucae Dry skin Brittle hair Coarctation of aorta Splenomegaly Xerostomia Vesicoureteral reflux Abnormality of the skin Decreased testicular size Abnormality of the ribs Epistaxis Recurrent urinary tract infections Congenital hip dislocation Hemivertebrae Abnormality of the urinary system Bilateral cryptorchidism Vertebral segmentation defect Decreased fertility Abnormality of the ureter Aplasia/Hypoplasia of the lungs Hip dislocation 11 pairs of ribs Abnormality of the uterus Miosis Intestinal atresia Urethral stenosis Cervical ribs Abdominal wall defect Prune belly Abnormality of the bladder Urethral obstruction Fetal ascites Congenital posterior urethral valve Dilatation of the bladder Aplasia of the abdominal wall musculature Ascites Pectus carinatum Hepatosplenomegaly Deep philtrum Abnormality of the kidney Wide mouth Short philtrum Small for gestational age Synophrys Cirrhosis Thin vermilion border Triangular face Abnormal bleeding Crumpled long bones Pancytopenia Hepatic fibrosis Hydrops fetalis Situs inversus totalis Poor suck Abnormal heart morphology Patent foramen ovale Clitoral hypertrophy Dextrocardia Premature skin wrinkling Biventricular hypertrophy Micronodular cirrhosis Functional respiratory abnormality Infra-orbital crease Abnormality of the clitoris Increased serum bile acid concentration Abnormality of glutamine metabolism Cognitive impairment Talipes equinovarus Dilatation Externally rotated/abducted legs Blue sclerae Hypoplastic pulmonary veins Dysphagia Hyperactivity Autism EEG abnormality Autistic behavior Attention deficit hyperactivity disorder Polymicrogyria Delayed myelination Hypsarrhythmia Cerebral visual impairment Limb hypertonia Impaired smooth pursuit Flexion contracture Short nose Visual impairment Respiratory failure Deeply set eye Microtia Limitation of joint mobility Premature birth Underdeveloped nasal alae Abnormal blistering of the skin Renal dysplasia Abnormality of the outer ear Glomerulosclerosis Skin vesicle Fragile skin Hypertonia Strabismus Skin erosion Hyposthenuria Feeding difficulties Irritability Nausea and vomiting Anorexia Polydipsia Polyuria Diabetes insipidus Pollakisuria Hypovolemia Nephrogenic diabetes insipidus Enuresis nocturna Nocturia Unexplained fevers Nystagmus Functional abnormality of the bladder Hypertonic dehydration Sensorineural hearing impairment Spasticity Elevated hepatic transaminase Postnatal growth retardation Abnormality of the liver Hepatic failure Hepatic steatosis Full cheeks Cholestasis CNS hypomyelination Hyperextensible skin Aplasia cutis congenita Oral mucosal blisters Multiple rib fractures Relative macrocephaly Respiratory insufficiency Long philtrum Proptosis Osteopenia Craniosynostosis Narrow chest Micromelia Recurrent fractures Rhizomelia Wormian bones Coxa vara Delayed gross motor development Increased susceptibility to fractures Motor delay Bowing of the legs Delayed cranial suture closure Shallow orbits Thoracolumbar scoliosis Vertebral compression fractures Breech presentation Dentinogenesis imperfecta Bronchiolitis Wide cranial sutures Multiple prenatal fractures Protrusio acetabuli Decreased calvarial ossification Absent pulmonary artery Macrocephaly Glandular hypospadias Ureterocele Intestinal pseudo-obstruction Abnormality of the stomach Aplasia of the bladder Congenital pyloric atresia Hypertelorism Peripheral neuropathy Downslanted palpebral fissures Smooth philtrum Pyloric stenosis Intestinal obstruction Spastic diplegia Multiple lipomas Arthropathy Increased mean platelet volume Hydrometrocolpos Congenital shortened small intestine Increased size of the mandible High palate Brachydactyly Finger syndactyly Postaxial hand polydactyly Renal hypoplasia/aplasia Abnormality of the metacarpal bones Hypoplastic left heart Tarsal synostosis Postaxial foot polydactyly Ectopic anus Urethral stricture Aplasia of the musculature


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