Intrauterine growth retardation, and Cyanosis

Diseases related with Intrauterine growth retardation and Cyanosis

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

Top matches:

Medium match TETRALOGY OF FALLOT

Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

Medium match CHILD SYNDROME

CHILD syndrome (Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects, CS) is an X-linked dominant genodermatosis characterized by unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies.

CHILD SYNDROME Is also known as child syndrome|child nevus|ichthyosiform erythroderma, unilateral, with ipsilateral malformations, especially absence deformity of limbs|congenital hemidysplasia with ichthyosiform nevus and limbs defects

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about CHILD SYNDROME

Medium match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Other less relevant matches:

Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Phosphohydroxylysinuria is characterized by elevated phosphohydroxylysine in the urine. There is no clinical phenotype associated with this finding other than the urinary metabolites. This was confirmed by population genetic studies performed by Veiga-da-Cunha et al. (2013) (Hamosh, 2013).

Related symptoms:

  • Seizures
  • Ataxia
  • Growth delay
  • Abnormality of the nervous system
  • Cyanosis


SOURCES: OMIM MENDELIAN

More info about PHOSPHOHYDROXYLYSINURIA; PHLU

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

Hemolytic anemia due to red cell pyruvate kinase (PK) deficiency is a metabolic disorder characterized by a variable degree of chronic nonspherocytic hemolytic anemia.

HEMOLYTIC ANEMIA DUE TO RED CELL PYRUVATE KINASE DEFICIENCY Is also known as pyruvate kinase deficiency of erythrocytes|pk deficiency|pyruvate kinase deficiency of erythrocyte

Related symptoms:

  • Anemia
  • Intrauterine growth retardation
  • Fatigue
  • Edema
  • Splenomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HEMOLYTIC ANEMIA DUE TO RED CELL PYRUVATE KINASE DEFICIENCY

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013).For a discussion of genetic heterogeneity of Diamond-Blackfan anemia, see DBA1 (OMIM ).

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Failure to thrive
  • Micrognathia


SOURCES: OMIM MESH MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 10; DBA10

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

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Anemia Uncommon - Between 30% and 50% cases
Edema Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Hypoglycemia Seizures Strabismus Generalized hypotonia Micrognathia Short stature Intellectual disability Jaundice Abnormal facial shape Respiratory distress Cirrhosis Lethargy Ascites Hearing impairment Fatigue Muscular hypotonia Scoliosis Feeding difficulties Patent ductus arteriosus Motor delay Pallor Hepatomegaly Global developmental delay Ataxia Vomiting Dolichocephaly Abnormality of the nervous system Apnea Hepatic failure Recurrent respiratory infections Increased body weight

Rare Symptoms - Less than 30% cases

Adrenal insufficiency Type II diabetes mellitus Congenital ichthyosiform erythroderma Axial dystonia Pigmentary retinopathy Spasticity Hepatic steatosis Hyperbilirubinemia Muscle weakness Nystagmus Growth hormone deficiency Poor eye contact Generalized myoclonic seizures Ventriculomegaly Hepatosplenomegaly Diabetes mellitus Hypogonadism Febrile seizures Delayed puberty Ventricular septal defect Cardiomyopathy Infertility Congenital diaphragmatic hernia Clinodactyly Macrocephaly Dyspnea Brain atrophy Depressed nasal bridge High palate Abnormality of cardiovascular system morphology Neoplasm Aspiration pneumonia Nonimmune hydrops fetalis Talipes equinovarus Fever Heart murmur Encephalopathy Stroke Hyporeflexia Insulin resistance Abnormality of the liver Decreased fetal movement Myoclonus Respiratory failure Progressive neurologic deterioration Clubbing Cardiac arrest Cholestasis Irritability Developmental regression Ventricular hypertrophy Cryptorchidism Hydrops fetalis Feeding difficulties in infancy Broad forehead Abnormal cardiac septum morphology Respiratory tract infection Hernia Dystonia Dysphagia Elevated hepatic transaminase Coarctation of aorta Retinopathy Nevus Pulmonary hypoplasia Splenomegaly Kyphosis Respiratory insufficiency Abnormality of eye movement Increased serum ferritin Umbilical hernia Aspiration Myopathy Intellectual disability, mild Flexion contracture Arrhythmia Poor suck Osteopenia Cholelithiasis Behavioral abnormality Short nose Abnormality of the dentition Syndactyly Intracranial hemorrhage Photophobia Dilatation Thin upper lip vermilion Pruritus Leukemia Attention deficit hyperactivity disorder Abnormality of the pinna Neonatal hypotonia Myopia Narrow mouth Obesity Autism Weight loss Micropenis Hyperactivity Upslanted palpebral fissure Osteoporosis Prominent forehead Intellectual disability, severe Laryngeal stridor Epicanthus Exertional dyspnea Supranuclear gaze palsy Slow saccadic eye movements Trismus Bulbar signs Hypomagnesemia Fetal akinesia sequence Hepatocellular carcinoma Epileptic spasms Limb hypertonia Protuberant abdomen Atrophy/Degeneration affecting the brainstem Bulbar palsy Hypokinesia Multiple myeloma Interstitial pulmonary abnormality Petechiae Abnormality of coagulation Opisthotonus Menorrhagia Athetosis Akinesia Hyponatremia Ectropion Abnormality of the thorax Portal hypertension Bilateral ptosis Congenital nonbullous ichthyosiform erythroderma Abnormality of the larynx Hypertension Giant cell hepatitis Delayed speech and language development Cognitive impairment Pain EEG with temporal sharp waves Slowed horizontal saccades Cardiac valve calcification Abnormal platelet aggregation Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Erlenmeyer flask deformity of the femurs CSF pleocytosis Orthopnea Carious teeth Hypoxemia Intestinal bleeding Spontaneous hematomas Subcutaneous hemorrhage Abducens palsy Hemophagocytosis Eclabion Abnormal pattern of respiration Histiocytosis Generalized osteosclerosis Restrictive deficit on pulmonary function testing Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Hypermetropia Cutaneous photosensitivity Genu valgum Hypoplastic labia minora Prolonged neonatal jaundice Hemolytic anemia Microvesicular hepatic steatosis Conjugated hyperbilirubinemia Abnormality of the coagulation cascade Hypoalbuminemia Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Central adrenal insufficiency Thrombocytosis Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Reticulocytosis Anisocytosis Chromosome breakage Malar flattening Reticulocytopenia Cleft soft palate Increased mean corpuscular volume Broad neck Macrocytic anemia Ectopic kidney Atresia of the external auditory canal Choanal atresia Microtia Conductive hearing impairment Posteriorly rotated ears Midface retrusion Low-set ears Poikilocytosis Cleft palate Reduced red cell pyruvate kinase activity Elevated transferrin saturation Compensated hemolytic anemia Increased red cell osmotic fragility Abnormal erythrocyte morphology Increased serum iron Abnormality of the amniotic fluid Congenital hemolytic anemia Unconjugated hyperbilirubinemia Chronic hemolytic anemia Nonspherocytic hemolytic anemia Cholecystitis Ocular albinism Hypoplasia of the fovea Arachnodactyly Amenorrhea Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Aortic valve stenosis Bradycardia Clumsiness Primary amenorrhea Leukopenia Psychosis Oligohydramnios Narrow forehead Abnormality of the cardiovascular system Specific learning disability Sleep apnea Hip dysplasia Esotropia Gastrointestinal hemorrhage Full cheeks Sepsis Hypopigmentation of the skin Sleep disturbance Tapered finger Short foot Small hand Downturned corners of mouth Short palm Polymicrogyria Bicuspid aortic valve Scrotal hypoplasia Acrocyanosis Polyphagia Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypoventilation Hypopigmentation of hair Pulmonary embolism Striae distensae Impaired pain sensation Myeloid leukemia Narrow nasal bridge External genital hypoplasia Infantile muscular hypotonia Truncal obesity Decreased muscle mass Skeletal muscle hypertrophy Albinism Glucose intolerance Inflammation of the large intestine Large hands Emotional lability Radial deviation of finger Hyperinsulinemia Precocious puberty Failure to thrive in infancy Nasal speech Hyperammonemia Acute pancreatitis Oculomotor apraxia Depressivity Epidermal acanthosis Overgrowth Decreased antibody level in blood Abdominal distention Triangular face Hypodontia Astigmatism Small for gestational age Intellectual disability, moderate Severe short stature Hypoplasia of the corpus callosum Pointed chin Frontal bossing Wide nasal bridge Dysarthria Hypertelorism Elevated 8(9)-cholestenol Elevated 8-dehydrocholesterol Parachute mitral valve Aplasia/Hypoplasia involving the central nervous system Mild intrauterine growth retardation Aplasia/hypoplasia of the extremities Dental crowding Acanthosis nigricans Thyroid hypoplasia Weak voice Visual impairment Ptosis Sensorineural hearing impairment Pericardial constriction Constrictive pericarditis Hypoplastic frontal sinuses J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Prominent superficial veins Reduced tendon reflexes Myocardial fibrosis Microglossia Scaphocephaly Insulin-resistant diabetes mellitus Pericarditis Slender long bone Pulmonary fibrosis High pitched voice Nephroblastoma Premature ovarian insufficiency Cachexia Single ventricle Vertebral hypoplasia Hyperreflexia Polycythemia Right ventricular failure Interrupted aortic arch Breathing dysregulation Pulmonary artery atresia Right ventricular hypertrophy Truncus arteriosus Double outlet right ventricle Hyperventilation Poor appetite Underdeveloped supraorbital ridges Preauricular pit Endocarditis Easy fatigability Sinusitis Hemiparesis Tetralogy of Fallot Thin vermilion border Pulmonic stenosis Paralysis Proptosis Clinodactyly of the 5th finger Abnormal heart morphology Brachydactyly Abnormal nasal morphology Overriding aorta Subvalvular aortic stenosis Congenital hip dislocation Hypoplastic pelvis Hypoplastic scapulae Myelomeningocele Meningocele Adrenal hypoplasia Parakeratosis Epiphyseal stippling Short clavicles Erythroderma Renal hypoplasia/aplasia Short ribs Pulmonary valve atresia Abnormality of the nail Renal agenesis Ichthyosis Cleft upper lip Hypotrichosis Erythema Hydronephrosis Hyperkeratosis Alopecia Absence of the pulmonary valve Tetralogy of Fallot with absent pulmonary valve Peripheral neuropathy Skeletal muscle atrophy Purpura Macrovesicular hepatic steatosis Hypertonia Diarrhea Microcephaly Exercise-induced lactic acidemia Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Infantile encephalopathy Delayed skeletal maturation Biventricular hypertrophy Decreased activity of mitochondrial respiratory chain Stiff neck Cerebral edema Severe lactic acidosis Corpus callosum atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Nemaline bodies Cardiorespiratory arrest Thrombocytopenia Dementia Progressive encephalopathy Epistaxis Osteolysis Knee flexion contracture Hypocalcemia Elbow flexion contracture Bone pain Progressive microcephaly Anorexia Thickened skin Decreased body weight Pulmonary arterial hypertension Pancytopenia Abdominal pain Abnormality of the skin Syncope Abnormal bleeding Nausea Lymphadenopathy Ophthalmoplegia Corneal opacity Cough Rigidity Gastroesophageal reflux Polyhydramnios Mitochondrial myopathy Optic neuropathy Optic atrophy Hypertrophic cardiomyopathy Lactic acidosis Stage 5 chronic kidney disease Talipes Abnormality of movement Limb muscle weakness Severe global developmental delay Abnormal pyramidal sign Mental deterioration Abnormality of the eye Muscular hypotonia of the trunk Myalgia Metabolic acidosis Proximal muscle weakness Kyphoscoliosis Acidosis Agenesis of corpus callosum Pneumonia Babinski sign Areflexia Renal insufficiency Cerebellar atrophy Blindness Atrial septal defect Dyskinesia Coma Renal tubular acidosis Pancreatitis Basal ganglia calcification Weak cry Progressive spasticity Pericardial effusion Global brain atrophy Oral-pharyngeal dysphagia Incoordination Ragged-red muscle fibers Leukoencephalopathy Shock Exercise intolerance Abnormal cerebellum morphology Horizontal nystagmus Leukodystrophy Wide anterior fontanel Left ventricular hypertrophy Cardiomegaly Optic disc pallor Increased serum lactate Migraine Premature birth Gliosis Progressive cerebellar ataxia Mandibulofacial dysostosis


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