Intrauterine growth retardation, and Dehydration

Diseases related with Intrauterine growth retardation and Dehydration

In the following list you will find some of the most common rare diseases related to Intrauterine growth retardation and Dehydration that can help you solving undiagnosed cases.

Top matches:

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first month of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient and resolves at a median age of 3 months, whereas the rest have a permanent form of diabetes (OMIM ). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes appears later in life (Arthur et al., 1997).The major cause of transient neonatal diabetes (TND) is aberrant expression of imprinted genes at chromosome 6q24, associated in 20% of cases with DNA hypomethylation at the TND differentially methylated region (DMR), which lies within the imprinted promoter of the PLAGL1 gene ({603044}; Mackay et al., 2005). Over 50% of individuals with TND and hypomethylation at 6q24 also show mosaic DNA hypomethylation at other imprinted loci throughout the genome and a range of additional clinical features. Genetic Heterogeneity of Transient Neonatal DiabetesTNDM2 (OMIM ) is caused by mutation in the ABCC8 gene (OMIM ) on chromosome 11p15.1. TNDM3 (OMIM ) is caused by mutation in the KCNJ11 gene (OMIM ), also located on 11p15.1.

DIABETES MELLITUS, TRANSIENT NEONATAL, 1 Is also known as tndm1|dmtn|tndm

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Intrauterine growth retardation
  • Talipes equinovarus


SOURCES: OMIM MENDELIAN

More info about DIABETES MELLITUS, TRANSIENT NEONATAL, 1

Permanent neonatal diabetes mellitus (PNDM) is a monogenic form of neonatal diabetes (NDM, see this term) characterized by persistent hyperglycemia within the first 12 months of life in general, requiring continuous insulin treatment.

PERMANENT NEONATAL DIABETES MELLITUS Is also known as monogenic diabetes of infancy|pndm

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about PERMANENT NEONATAL DIABETES MELLITUS

Transient neonatal diabetes mellitus (TNDM) is a genetically heterogeneous form of neonatal diabetes (NDM, see this term) characterized by hyperglycemia presenting in the neonatal period that remits during infancy but recurs in later life in most patients.

TRANSIENT NEONATAL DIABETES MELLITUS Is also known as tndm3|tndm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about TRANSIENT NEONATAL DIABETES MELLITUS

Other less relevant matches:

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

Neonatal diabetes mellitus (NDM), defined as insulin-requiring hyperglycemia within the first 3 months of life, is a rare entity, with an estimated incidence of 1 in 400,000 neonates (Shield, 2000). In about half of the neonates, diabetes is transient (see {601410}) and resolves at a median age of 3 months, whereas the rest have a permanent insulin-dependent form of diabetes (PNDM). In a significant number of patients with transient neonatal diabetes mellitus, type II diabetes (see {125853}) appears later in life (Arthur et al., 1997). PNDM is distinct from childhood-onset autoimmune diabetes mellitus type I (IDDM ).Massa et al. (2005) noted that the diagnostic time limit for PNDM has changed over the years, ranging from onset within 30 days of birth to 3 months of age. However, as patients with the clinical phenotype caused by mutation in the KCNJ11 gene have been identified with onset up to 6 months of age, Massa et al. (2005) suggested that the term 'permanent diabetes mellitus of infancy' (PDMI) replace PNDM as a more accurate description, and include those who present up to 6 months of age. The authors suggested that the new acronym be linked to the gene product (e.g., GCK-PDMI, KCNJ11-PDMI) to avoid confusion with patients with early-onset, autoimmune type I diabetes.Colombo et al. (2008) proposed that, because individuals with INS gene mutations may present with diabetes well beyond 6 months of age and cannot be distinguished from patients with type 1 diabetes except for the absence of type 1 diabetes autoantibodies, the term PNDM should be replaced with 'monogenic diabetes of infancy (MDI),' a broad definition including any form of diabetes, permanent or transient, with onset during the first years of life and caused by a single gene defect.

DIABETES MELLITUS, PERMANENT NEONATAL; PNDM Is also known as diabetes mellitus, permanent, of infancy|pdmi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about DIABETES MELLITUS, PERMANENT NEONATAL; PNDM

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

KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS Is also known as blepharophimosis-ptosis-intellectual disability syndrome|bpids

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS

Medium match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Medium match WILLIAMS SYNDROME

Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

characterized by the deficiency or absence of the enzymes sucrase and isomaltase existing at, and usually before birth; this enzyme complex (sucrase-isomaltase) assists in the breakdown of a certain sugar (ie, sucrose) and certain products of starch digestion (dextrins); only evident soon after birth when sucrose or starches, such as found in modified milk formulas with sucrose or polycose, are ingested by an affected infant, breast-fed infants or those on lactose-only formula manifest no symptoms until such time as sucrose (found in fruit juices, solid foods, and/or some medications) is introduced into the diet.

SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID Is also known as sucrose-isomaltose malabsorption, congenital|disaccharide intolerance i|sucrose intolerance, congenital|si deficiency

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Vomiting
  • Diarrhea
  • Abnormality of metabolism/homeostasis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SUCRASE-ISOMALTASE DEFICIENCY, CONGENITAL; CSID

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Dehydration

Symptoms // Phenotype % cases
Failure to thrive Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Hyperglycemia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Intrauterine growth retardation and Dehydration. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Growth delay

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Diabetes mellitus

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment Abnormal heart morphology Motor delay Generalized hypotonia Hypertelorism Short nose Short stature Micrognathia Ventricular septal defect Ptosis Microcephaly Depressed nasal bridge Transient neonatal diabetes mellitus Epicanthus Small for gestational age Coarctation of aorta Flexion contracture Hyperlordosis Hypoglycemia Smooth philtrum Spasticity Precocious puberty Hypothyroidism Anteverted nares Osteopenia Osteoporosis High palate Patent ductus arteriosus Irritability Feeding difficulties in infancy Long philtrum Pes planus Failure to thrive in infancy Constipation Clinodactyly of the 5th finger Atrial septal defect Ketoacidosis Feeding difficulties Abnormal facial shape Microdontia Brachydactyly Strabismus Cryptorchidism Postnatal growth retardation High forehead Glycosuria Weight loss Abnormality of the upper urinary tract Pancreatic hypoplasia Autoimmune antibody positivity Downturned corners of mouth Renal tubular dysfunction Prominent metopic ridge Neurodevelopmental delay Coma Generalized myoclonic seizures Macroglossia Bilateral ptosis

Rare Symptoms - Less than 30% cases

Myopia Absent speech Recurrent infections Attention deficit hyperactivity disorder Abnormal cardiac septum morphology Respiratory distress Ventriculomegaly Postural instability Neurological speech impairment Chronic constipation Nephrolithiasis Malabsorption Abdominal pain Urethral stenosis Joint stiffness Hip dislocation Genu valgum Schizophrenia Low-set ears Infantile muscular hypotonia Aortic valve stenosis Central hypothyroidism Amblyopia Abnormal form of the vertebral bodies Otitis media Gastroesophageal reflux Prominent forehead Abnormality of the dentition Macrotia Intellectual disability, moderate Behavioral abnormality Intellectual disability, mild Macrocephaly Hernia Inguinal hernia Wide nasal bridge Cataract Sensorineural hearing impairment Recurrent respiratory infections Scoliosis Prematurely aged appearance Polycystic ovaries Nephrocalcinosis Narrow face Intestinal malrotation Coarse facial features Abdominal distention Microcornea Single transverse palmar crease Thick vermilion border Iris coloboma Low-set, posteriorly rotated ears Carious teeth Coloboma Craniosynostosis Blepharophimosis Abnormality of the kidney Telecanthus Congestive heart failure Thin upper lip vermilion Proteinuria Pectus excavatum Brachycephaly Hepatomegaly Type I diabetes mellitus Hypsarrhythmia Muscular hypotonia of the trunk Abnormality of the nervous system Clinodactyly Vomiting Peripheral neuropathy Neonatal respiratory distress Gingival overgrowth Cardiomegaly Joint laxity Umbilical hernia Retrognathia Talipes equinovarus Pain Elevated hemoglobin A1c Steatorrhea Insulin resistance Reduced pancreatic beta cells Contractures of the joints of the lower limbs Neonatal insulin-dependent diabetes mellitus Hypovolemia Ketonuria Apraxia Arthrogryposis multiplex congenita Generalized tonic-clonic seizures Intellectual disability, severe Ataxia Type II diabetes mellitus Polyuria Glucose intolerance Obesity Hypertonia Kyphosis Diarrhea Renal insufficiency Delayed skeletal maturation Gait disturbance Upslanted palpebral fissure Flat cornea Descending aorta hypoplasia Renal hypoplasia Ventricular hypertrophy Abnormality of extrapyramidal motor function Hypoplasia of penis Mitral valve prolapse Hypotelorism Vocal cord dysfunction Narrow forehead Abnormality of the cardiovascular system Tetralogy of Fallot Renal agenesis Esotropia Dental malocclusion Vesicoureteral reflux Chest pain Sudden cardiac death Full cheeks Broad nasal tip Small nail Thick lower lip vermilion Functional abnormality of male internal genitalia Pointed chin Abnormal dermatoglyphics Cutis laxa Spina bifida occulta Abnormality of the fingernails Abnormality of dental enamel Hemivertebrae Hypogonadotrophic hypogonadism Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Increased body weight Hypodontia Increased bone mineral density Hoarse voice Dyssynergia Stellate iris Recurrent urinary tract infections Involuntary movements Mitral regurgitation Open mouth Recurrent otitis media Hemiparesis Myocardial infarction Atrophy/Degeneration involving the corticospinal tracts Sleep disturbance Widely spaced teeth Abnormality of the curvature of the vertebral column Midface retrusion Malar flattening Myopathy Tremor Dysarthria Hyperreflexia Hypertension Visual impairment Delayed speech and language development Cognitive impairment Cleft palate Megakaryocyte dysplasia Elevated serum creatine phosphokinase Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Macular hypoplasia Clitoral hypoplasia U-Shaped upper lip vermilion Depressivity Cerebellar hypoplasia Everted lower lip vermilion Scarring Oral cleft Dysmetria Joint hyperflexibility Overgrowth Abnormality of metabolism/homeostasis Nausea and vomiting Malnutrition Pulmonic stenosis Corneal opacity Broad forehead Stroke Wide mouth Glaucoma Paralysis Autistic behavior Protruding ear Developmental regression Cleft lip Hypertrophic cardiomyopathy Anxiety Arthralgia Kyphoscoliosis Autism Micropenis Cerebral cortical atrophy Progressive hearing impairment Bicuspid aortic valve Abnormal social behavior Subvalvular aortic stenosis Supravalvular aortic stenosis Dysgraphia Arterial stenosis Rectal prolapse Periorbital edema Peptic ulcer Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Impaired visuospatial constructive cognition Peripheral pulmonary artery stenosis Phonophobia Decreased plasma carnitine Calcification of the aorta Periorbital fullness Gait imbalance Abnormality of refraction Cerebral ischemia Dyslexia Villous atrophy Unilateral renal hypoplasia Enuresis Myxomatous mitral valve degeneration Abnormality of nervous system morphology Parathyroid hyperplasia Abnormality of the neck Nocturia Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Food intolerance Pelvic kidney Hyperacusis Retinal arteriolar tortuosity Coronary artery stenosis Renal artery stenosis Abnormality of the bladder Synostosis of joints Obsessive-compulsive trait Abnormal glucose tolerance Aortic arch aneurysm Overriding aorta Tubulointerstitial abnormality Abnormality of the ankles Vascular tortuosity Colonic diverticula Renal duplication Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Thyroid hypoplasia Retinal vascular tortuosity Increased nuchal translucency Abnormality of the cerebral vasculature Paroxysmal bursts of laughter Sacral dimple Portal hypertension Bilateral vocal cord paralysis Open bite Loss of consciousness Tracheoesophageal fistula Hypoplastic toenails Abnormality of dental morphology Unilateral renal agenesis Obsessive-compulsive behavior Long hallux Nephritis Abnormality of the voice Radioulnar synostosis Premature graying of hair Hypercalcemia Redundant skin Cholelithiasis Hypercalciuria Dysphonia Incoordination Abnormality of pelvic girdle bone morphology Adducted thumb Reduced bone mineral density Arnold-Chiari malformation Ischemic stroke Hallux valgus Vertebral segmentation defect Large earlobe Abnormality of the vasculature Abnormal carotid artery morphology Abnormality of the diencephalon Tubulointerstitial nephritis Right ventricular hypertrophy Medial flaring of the eyebrow Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Down-sloping shoulders Multiple renal cysts Patellar dislocation Pulmonary artery stenosis Celiac disease Poor coordination Soft skin Nevus flammeus Arnold-Chiari type I malformation Posterior embryotoxon Abnormality of lipid metabolism Megalocornea Elfin facies Insomnia Restlessness Facial cleft High hypermetropia Chronic otitis media Wheezing Abnormality of the head Mandibular prognathia Labial hypertrophy Abnormality of the placenta Muscle weakness Sparse hair Abnormality of the pinna Pneumonia Neonatal hypotonia Conductive hearing impairment Confusion Progressive neurologic deterioration Aspiration Narrow mouth Dry skin Hyperkeratosis Polydactyly Posteriorly rotated ears Polydipsia Radial deviation of finger Abnormality of the ear Abnormality of the immune system Hypoplasia of the corpus callosum Aspiration pneumonia Mild global developmental delay Limb joint contracture Astigmatism Long face Thickened ears Dental crowding Sparse eyebrow Poor suck Coarse hair Abnormality of the outer ear Acanthosis nigricans Abnormality of the face Narrow palate Generalized hirsutism Preauricular skin tag Sparse and thin eyebrow Wide anterior fontanel Thin skin Hirsutism Hypertrichosis Fine hair Epidermal acanthosis Optic disc pallor Prominent occiput Shallow orbits Hypoplastic fingernail Abnormality of earlobe Abdominal wall defect Postaxial polydactyly Small anterior fontanelle Beta-cell dysfunction Clinodactyly of the 4th finger Metatarsus adductus Hepatitis Hyperuricemia Short thorax Abnormality of neuronal migration Spondyloepiphyseal dysplasia Preauricular pit Epiphyseal dysplasia Wormian bones Coxa valga Abnormality of epiphysis morphology Abnormality of the metaphysis Blue sclerae Triangular face Exocrine pancreatic insufficiency Recurrent fractures Neutropenia Nephropathy Hepatic failure Thin vermilion border Hypermetropia Platyspondyly Elevated hepatic transaminase Hepatosplenomegaly Jaundice Severe short stature Hypoplasia of the odontoid process Insulin-resistant diabetes mellitus Nystagmus Hip subluxation Ivory epiphyses of the toes Irregular tarsal ossification Intracerebral periventricular calcifications Ivory epiphyses of the phalanges of the hand Abnormality of pancreas morphology Irregular carpal bones Bilateral coxa valga Shortening of all middle phalanges of the fingers Chronic hepatic failure Atlantoaxial dislocation Decreased hip abduction Anemia Overweight Flattened epiphysis Narrow iliac wings Thoracolumbar kyphosis Carpal bone hypoplasia Enlarged thorax Small epiphyses Thin bony cortex Multiple epiphyseal dysplasia Acute hepatic failure Barrel-shaped chest Cone-shaped epiphyses of the phalanges of the hand Irregular vertebral endplates Clitoral hypertrophy Abnormality of the thyroid gland Nasolacrimal duct obstruction Multicystic kidney dysplasia Chorioretinal coloboma Ectropion Trigonocephaly Hand polydactyly Pyloric stenosis Severe failure to thrive Premature atrial contractions Tachypnea Abnormal palate morphology Azoospermia Holoprosencephaly Horseshoe kidney Hammertoe Bone marrow hypocellularity Spina bifida Hypoinsulinemia Leukodystrophy Short toe Sinusitis Short thumb Pachygyria Pancytopenia Eczema Retinopathy Heart murmur Flat occiput Webbed neck Retinal dysplasia Broad columella Abnormal thrombocyte morphology Labial hypoplasia Aplasia/Hypoplasia of the earlobes Nuclear cataract Broad hallux phalanx Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Severe intrauterine growth retardation Diastasis recti Aplasia/Hypoplasia of the eyebrow Missing ribs Double outlet right ventricle Abnormal eyelash morphology Bipolar affective disorder Acidosis Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Hypoplastic left heart Growth hormone deficiency Decreased antibody level in blood Oligohydramnios Abnormality of the abdominal wall Downslanted palpebral fissures Optic atrophy Prominent nose Onychauxis Long palm Laryngeal stridor Postprandial hyperglycemia Narrow palm Female pseudohermaphroditism Macrodontia Broad eyebrow Diastema Short neck Advanced eruption of teeth Hypocholesterolemia Long penis Thick nail Ovarian cyst Bilateral conductive hearing impairment Furrowed tongue Ovoid vertebral bodies Progeroid facial appearance Bell-shaped thorax Growth hormone excess Frontal bossing Hydrocephalus Premature birth Peripheral axonal neuropathy Bruising susceptibility Tachycardia Anal atresia Talipes Facial asymmetry Narrow chest Toe syndactyly Dolichocephaly Leukemia Finger syndactyly Skin rash Camptodactyly Abnormality of the pancreatic islet cells Microalbuminuria Hydronephrosis Hypogonadism Agenesis of corpus callosum Hypospadias Thrombocytopenia Abnormality of cardiovascular system morphology Cerebral atrophy Microphthalmia Immunodeficiency Syndactyly Maternal diabetes Abdominal colic


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