Intrauterine growth retardation, and Abnormality of the eye

Diseases related with Intrauterine growth retardation and Abnormality of the eye

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

Top matches:

3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY

Combined oxidative phosphorylation deficiency-23 is an autosomal recessive disorder characterized by early childhood onset of hypertrophic cardiomyopathy and/or neurologic symptoms, including hypotonia and delayed psychomotor development. Laboratory investigations are consistent with a defect in mitochondrial function resulting in lactic acidosis, impaired activities of respiratory complexes I and IV, and defective translation of mitochondrial proteins. Brain imaging shows abnormal lesions in the basal ganglia, thalamus, and brainstem. The severity of the disorder is variable, ranging from death in early infancy to survival into the second decade (summary by Kopajtich et al., 2014).For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (OMIM ).

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23 Is also known as coxpd23

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 23

Other less relevant matches:

Related symptoms:

  • Intrauterine growth retardation
  • Hyperglycemia
  • Maturity-onset diabetes of the young
  • Diabetic ketoacidosis


SOURCES: OMIM MENDELIAN

More info about MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; MODY10

Partial agenesis of the pancreas is characterized by the congenital absence of a critical mass of pancreatic tissue.

PARTIAL PANCREATIC AGENESIS Is also known as congenital pancreatic agenesis|pancreatic hypoplasia, congenital|pagen|partial agenesis of the pancreas

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Intrauterine growth retardation
  • Diabetes mellitus
  • Malabsorption


SOURCES: ORPHANET OMIM MENDELIAN

More info about PARTIAL PANCREATIC AGENESIS

Heterotaxy ('heter' meaning 'other' and 'taxy' meaning 'arrangement'), or situs ambiguus, is a developmental condition characterized by randomization of the placement of visceral organs, including the heart, lungs, liver, spleen, and stomach. The organs are oriented randomly with respect to the left-right axis and with respect to one another (Srivastava, 1997). Heterotaxy is a clinically and genetically heterogeneous disorder.For a discussion of genetic heterogeneity of visceral heterotaxy, see HTX1 (OMIM ).

SITUS INVERSUS TOTALIS Is also known as complete situs inversus|complete situs inversus viscerum|situs inversus viscerum|siv|situs inversus

Related symptoms:

  • Intrauterine growth retardation
  • Ventricular septal defect
  • Atrial septal defect
  • Abnormal heart morphology
  • Dyskinesia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SITUS INVERSUS TOTALIS

Related symptoms:

  • Growth delay
  • Failure to thrive
  • Intrauterine growth retardation
  • Jaundice
  • Hypoglycemia


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE); MTDPS15

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

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3; CDCBM3

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Intrauterine growth retardation


SOURCES: MESH OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP J; FANCJ

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Abnormality of the eye

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

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Intellectual disability Maturity-onset diabetes of the young Glucose intolerance Diabetes mellitus Type II diabetes mellitus Microcephaly Postnatal growth retardation Ascites Macroglossia Hepatic failure Severe intrauterine growth retardation Dehydration Hepatic steatosis Overgrowth Small for gestational age Cholestasis Talipes equinovarus Hypertelorism Microvesicular hepatic steatosis Conjugated hyperbilirubinemia Abnormality of the coagulation cascade Hyperbilirubinemia Hypoalbuminemia Transient neonatal diabetes mellitus Severe failure to thrive Lissencephaly Multiple cafe-au-lait spots Bone marrow hypocellularity Short thumb Microphthalmia Anemia Neoplasm Agyria Cortical dysplasia Heterotopia Premature atrial contractions Pachygyria Spastic tetraplegia Paraplegia Spastic paraplegia Hypoplasia of the corpus callosum Nystagmus Hypoinsulinemia Abnormality of the liver Cirrhosis Transposition of the great arteries Elevated hepatic transaminase Cardiomyopathy Increased serum lactate Lactic acidosis Feeding difficulties in infancy Hypertrophic cardiomyopathy Acidosis Arrhythmia Congestive heart failure Visual impairment Decreased testicular size Feeding difficulties Cognitive impairment Generalized hypotonia Absence seizures Brain atrophy Cerebral atrophy Hypertonia Short stature Diabetic ketoacidosis Hypoglycemia Dyskinesia Jaundice Heterotaxy Abdominal situs inversus Abnormality of the respiratory system Ciliary dyskinesia Dextrocardia Situs inversus totalis Abnormal heart morphology Malabsorption Atrial septal defect Ventricular septal defect Neonatal insulin-dependent diabetes mellitus Pancreatic hypoplasia Maternal diabetes Exocrine pancreatic insufficiency Type I diabetes mellitus Increased body weight Chromosomal breakage induced by crosslinking agents


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