Intrauterine growth retardation, and Leukodystrophy

Diseases related with Intrauterine growth retardation and Leukodystrophy

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

Top matches:

Combined oxidative phosphorylation defect type 4 is a rare mitochondrial disorder due to a defect in mitochondrial protein synthesis characterized by a neonatal onset of severe metabolic acidosis and respiratory distress, persistent lactic acidosis with episodes of metabolic crises, developmental regression, microcephaly, abnormal gaze fixation and pursuit, axial hypotonia with limb spasticity and reduced spontaneous movements. Neuroimaging studies reveal polymicrogyria, white matter abnormalities and multiple cystic brain lesions, including basal ganglia, and cerebral atrophy. Decreased activity of complex I and IV have been determined in muscle biopsy.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4 Is also known as coxpd4

Related symptoms:

  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 4

CRMCC2 is an autosomal recessive multisystem disorder characterized by premature aging, pancytopenia, hypocellular bone marrow, osteopenia, liver fibrosis, and vascular telangiectasia resulting in gastrointestinal bleeding. Brain imaging shows intracranial calcifications and leukodystrophy, which may result in neurologic signs including spasticity, ataxia, or dystonia. Patients may also have retinal telangiectasia (summary by Simon et al., 2016).For a discussion of genetic heterogeneity of CRMCC, see CRMCC1 (OMIM ).

Related symptoms:

  • Ataxia
  • Growth delay
  • Spasticity
  • Hypertension
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 2; CRMCC2

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MESH MENDELIAN

More info about AICARDI-GOUTIERES SYNDROME 4; AGS4

Other less relevant matches:

MMDS3 is an autosomal recessive severe neurodegenerative disorder characterized by loss of previously acquired developmental milestones in the first months or years of life. Some affected patients have normal development in early infancy before the onset of symptoms, whereas others show delays from birth. Features included loss of motor function, spasticity, pyramidal signs, loss of speech, and cognitive impairment. The disease course is highly variable: some patients die of respiratory failure early in childhood, whereas some survive but may be bedridden with a feeding tube. Less commonly, some patients may survive and have a stable course with motor deficits and mild or even absent cognitive impairment, although there may be fluctuating symptoms, often in response to infection. Other variable features include visual problems and seizures. Brain imaging shows diffuse leukodystrophy in the subcortical region, brainstem, cerebellum, and spinal cord. Laboratory studies tend to show increased lactate and CSF glycine, and decreased activity of mitochondrial complexes I and II, although these findings are also variable. There may be additional biochemical evidence of mitochondrial dysfunction (summary by Liu et al., 2018).For a general description and a discussion of genetic heterogeneity of multiple mitochondrial dysfunctions syndrome, see MMDS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3; MMDS3

Medium match COATS PLUS SYNDROME

Coats plus syndrome is a pleiotropic multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteopenia with predisposition to fractures, bone marrow suppression, gastrointestinal bleeding and portal hypertension. It is transmitted as an autosomal recessive disease.

COATS PLUS SYNDROME Is also known as cerebroretinal microangiopathy with calcifications and cysts|coats plus syndrome|crmcc

Related symptoms:

  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about COATS PLUS SYNDROME

Galloway-Mowat syndrome is a renal-neurologic disease characterized by early-onset nephrotic syndrome associated with microcephaly, gyral abnormalities of the brain, and delayed psychomotor development. Most patients have dysmorphic facial features, often including hypertelorism, ear abnormalities, and micrognathia. Other features, such as arachnodactyly and visual impairment, are more variable. Most patients die in the first years of life (summary by Braun et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of GAMOS, see GAMOS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME 3; GAMOS3

Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

Cockayne syndrome is characterized by abnormal and slow growth and development that becomes evident within the first few years after birth. 'Cachectic dwarfism' describes the outward appearance of afflicted individuals. Other features include cutaneous photosensitivity, thin, dry hair, a progeroid appearance, progressive pigmentary retinopathy, sensorineural hearing loss, dental caries, and a characteristic stance in the ambulatory patient. Patients often show disproportionately long limbs with large hands and feet, and flexion contractures of joints are usual skeletal features. Knee contractures result in a 'horse-riding stance.' There is delayed neural development and severe progressive neurologic degeneration resulting in mental retardation. The mean age at death in reported cases is 12.5 years, although a few affected individuals have lived into their late teens or twenties. Remarkably, in striking contrast with xeroderma pigmentosum, patients with CS have no significant increase in skin cancer or infection (Nance and Berry, 1992).Lowry (1982) noted that there is an early-onset form of Cockayne syndrome in which patients may show abnormalities at birth and have a shorter survival. Lowry (1982) thus suggested that CS could be divided clinically into the more common type I, with classic CS symptoms that manifest within the first few years or life, and the less common type II, with more severe symptoms that manifest prenatally. Mallery et al. (1998) found no correlation between genotype and phenotype among 16 patients with CS of varying severities, and concluded that clinical differences were based on other genetic backgrounds or the intrauterine environment. Genetic Heterogeneity of Cockayne SyndromeCockayne syndrome is a genetically heterogeneous disorder, and certain types show some overlap with certain forms of xeroderma pigmentosum (XP), another disorder caused by defective DNA repair. See also Cockayne syndrome B (OMIM ), caused by mutation in the ERCC6 gene (OMIM ) on chromosome 10q11; XPG/CS (see {278780}), caused by mutation in the ERCC5 gene (OMIM ) on chromosome 13q33; XPB/CS (see {610651}), caused by mutation in the ERCC3 gene (OMIM ) on chromosome 2q21; and XPF/CS (see {278760}), caused by mutation in the ERCC4 gene (OMIM ) on chromosome 16p13.Rapin et al. (2000) reviewed the clinical, pathologic, and molecular features of Cockayne syndrome, xeroderma pigmentosum, and the XP-CS complex.

COCKAYNE SYNDROME TYPE 1 Is also known as cockayne syndrome type i

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about COCKAYNE SYNDROME TYPE 1

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

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

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

Symptoms // Phenotype % cases
Spasticity Very Common - Between 80% and 100% cases
Growth delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Optic atrophy

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Nystagmus

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Cerebral atrophy Strabismus Dystonia Ataxia Ventriculomegaly Cerebral calcification Leukoencephalopathy Retinopathy Intellectual disability Hearing impairment Visual impairment Acidosis Respiratory failure Encephalopathy Hepatomegaly Feeding difficulties Lactic acidosis Developmental regression Thrombocytopenia Edema Cerebellar atrophy Micrognathia Myopathy Abnormal pyramidal sign Abnormal facial shape Cryptorchidism Coarctation of aorta Muscle weakness Ptosis Flexion contracture Congestive heart failure Sensorineural hearing impairment Pigmentary retinopathy Hydrocephalus Blindness Tremor Respiratory distress Anemia Muscular hypotonia of the trunk Low-set ears Osteopenia Hypertension Pancytopenia Premature birth Metabolic acidosis Hypertonia Increased serum lactate

Rare Symptoms - Less than 30% cases

Respiratory insufficiency Neonatal hypotonia Renal insufficiency Vomiting Febrile seizures Abnormality of movement Sparse hair Arrhythmia Small for gestational age Abnormality of the liver Postnatal growth retardation Mental deterioration Osteoporosis Babinski sign Dysarthria Progressive leukoencephalopathy Cardiomyopathy Hepatic failure Dysphagia Epicanthus Hip dislocation Coloboma Camptodactyly Proteinuria Pachygyria Pectus excavatum Microphthalmia Anteverted nares Downslanted palpebral fissures Opisthotonus Hyperreflexia Hypertelorism Progressive encephalopathy Basal ganglia calcification Hypoplastic left heart Corpus callosum atrophy Hypogonadism Polymicrogyria Myoclonus Bone marrow hypocellularity Dementia Scoliosis Proximal muscle weakness Exercise intolerance Hypoplasia of the corpus callosum Talipes Abnormality of the vasculature High palate Hypertrophic cardiomyopathy Esophageal varix Agenesis of corpus callosum Hypoglycemia Feeding difficulties in infancy Telangiectasia Ragged-red muscle fibers Convex nasal ridge Abnormal mitochondria in muscle tissue Severe global developmental delay Oral-pharyngeal dysphagia Apnea Pneumonia Retinal telangiectasia Splenomegaly Portal hypertension Cognitive impairment Recurrent infections Hernia Severe lactic acidosis Muscular hypotonia Cataract Macrocephaly Gastrointestinal hemorrhage Generalized myoclonic seizures Talipes equinovarus Retrognathia Atrial septal defect Spastic tetraplegia Stage 5 chronic kidney disease Abnormality of the cerebral white matter Patent ductus arteriosus Brain atrophy Tetraplegia Irritability Long philtrum Recurrent respiratory infections Short nose Hypothyroidism Intellectual disability, moderate Syndactyly Telecanthus High forehead Pes planus Immunodeficiency Abnormal heart morphology Abnormality of cardiovascular system morphology Constipation Hypospadias Clinodactyly of the 5th finger Prominent forehead Inguinal hernia Clinodactyly Thin upper lip vermilion Hydronephrosis Infantile encephalopathy Intellectual disability, mild Adrenal insufficiency Cardiorespiratory arrest Mitochondrial myopathy Craniosynostosis Optic neuropathy Renal tubular acidosis Weak cry Poor eye contact Progressive spasticity Pericardial effusion Global brain atrophy Incoordination Nemaline bodies Shock Pancreatitis Horizontal nystagmus Cardiac arrest Aspiration Wide anterior fontanel Left ventricular hypertrophy Ventricular hypertrophy Cardiomegaly Congenital diaphragmatic hernia Aspiration pneumonia Increased CSF lactate Behavioral abnormality Acute necrotizing encephalopathy Abnormality of the dentition Short neck Ventricular septal defect Frontal bossing Wide nasal bridge Brachydactyly Cyanosis Optic disc pallor Depressed nasal bridge Exercise-induced lactic acidemia Congenital lactic acidosis Wolff-Parkinson-White syndrome Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Cerebral edema Low-set, posteriorly rotated ears Multicystic kidney dysplasia Abnormal cardiac septum morphology Double outlet right ventricle Mitral stenosis Ectopic anus Duodenal atresia Eyelid coloboma Chronic constipation Retinal dysplasia Diastasis recti Missing ribs Abnormal eyelash morphology Nuclear cataract Bipolar affective disorder Wheezing Transposition of the great arteries Natal tooth Slender finger Partial agenesis of the corpus callosum Atrioventricular canal defect Aplasia/Hypoplasia of the eyebrow Flat occiput Broad hallux phalanx Aplasia/Hypoplasia of the earlobes Heart murmur Giant platelets Megakaryocyte dysplasia Congenital thrombocytopenia Bilateral camptodactyly Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Macular hypoplasia Labial hypoplasia Clitoral hypoplasia Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Nasolacrimal duct obstruction Broad columella Abnormal thrombocyte morphology Hammertoe Chorioretinal coloboma Attention deficit hyperactivity disorder Tachycardia Webbed neck Decreased antibody level in blood Intestinal malrotation Postural instability Microcornea Single transverse palmar crease Iris coloboma Bruising susceptibility Anal atresia Otitis media Smooth philtrum Facial asymmetry Narrow chest Toe syndactyly Dolichocephaly Neurological speech impairment Leukemia Finger syndactyly Skin rash Growth hormone deficiency Microdontia Ectropion Holoprosencephaly Trigonocephaly Hand polydactyly Pyloric stenosis Schizophrenia Infantile muscular hypotonia Tachypnea Abnormal palate morphology Azoospermia Gliosis Dehydration Horseshoe kidney Spina bifida Aortic valve stenosis Short toe Sinusitis Short thumb Amblyopia Abnormal form of the vertebral bodies Eczema Migraine Carious teeth Progressive cerebellar ataxia Exudative retinopathy Deeply set eye Narrow mouth Cerebellar hypoplasia Midface retrusion Delayed speech and language development Decreased pulmonary function Spastic hemiparesis Retinal exudate Ichthyosis Metaphyseal sclerosis Intestinal bleeding Morphological abnormality of the pyramidal tract Oral leukoplakia Calcinosis Hematochezia Pathologic fracture Arachnodactyly Narrow forehead Hemiplegia Hand clenching Dilated cardiomyopathy Respiratory tract infection Absent speech Diarrhea Motor delay Hypertensive crisis Diffuse mesangial sclerosis Cortical gyral simplification Sloping forehead Focal segmental glomerulosclerosis Glomerulosclerosis Hypoalbuminemia Lissencephaly Hypocalcemia Postnatal microcephaly Nephrotic syndrome Oligohydramnios Short femoral neck Increased susceptibility to fractures Generalized muscle weakness Muscle stiffness Arthrogryposis multiplex congenita Polyhydramnios CSF lymphocytic pleiocytosis Lymphocytosis Facial paralysis Atrophy/Degeneration affecting the brainstem Leukopenia Bradycardia Tetraparesis Progressive microcephaly Pruritus Paralysis Elevated hepatic transaminase Hepatosplenomegaly Premature graying of hair Abnormality of brain morphology Hyperammonemia Wide intermamillary distance Severe muscular hypotonia Thin skin Frontoparietal polymicrogyria Hemiparesis Abnormality of extrapyramidal motor function Nail dysplasia Recurrent fractures Cirrhosis Genu valgum Nail dystrophy Diffuse leukoencephalopathy Spastic tetraparesis Psychomotor deterioration Primitive reflex Pendular nystagmus Loss of speech Episodic fever Agitation Hypoplasia of the brainstem Abnormality of mitochondrial metabolism Ophthalmoplegia Mitral regurgitation Abnormal cerebellum morphology Retinal pigment epithelial mottling Slender nose Increased cellular sensitivity to UV light Severe photosensitivity Normal pressure hydrocephalus Loss of facial adipose tissue Decreased lacrimation Chorioretinitis Delayed eruption of primary teeth Peripheral dysmyelination Abnormal auditory evoked potentials CNS demyelination Hypoplasia of teeth Menstrual irregularities Dry hair Hypoplastic pelvis Hypoplastic iliac wing Progeroid facial appearance Square pelvis bone Ivory epiphyses of the phalanges of the hand Severe postnatal growth retardation Pallor Coma Hepatic steatosis Dyskinesia Abnormality of eye movement Limb muscle weakness Lethargy Stroke Abnormality of the eye Patchy demyelination of subcortical white matter Myalgia Kyphoscoliosis Hyporeflexia Areflexia Fatigue Skeletal muscle atrophy Peripheral neuropathy Thymic hormone decreased Atypical scarring of skin Abnormality of visual evoked potentials Congenital hip dislocation Increased intramyocellular lipid droplets Kyphosis Intellectual disability, severe Gait disturbance Neoplasm Stress/infection-induced lactic acidosis Left ventricular systolic dysfunction Decreased activity of mitochondrial complex II Hemolytic-uremic syndrome Micropenis Paraganglioma Left ventricular noncompaction Ketonuria Preeclampsia Ketosis Rhabdomyolysis Easy fatigability External ophthalmoplegia Severe short stature Mandibular prognathia Thickened calvaria Knee flexion contracture Reduced subcutaneous adipose tissue Anhidrosis Large hands Decreased nerve conduction velocity Neoplasm of the skin Atherosclerosis Opacification of the corneal stroma Anorexia Abnormality of the pinna Cutaneous photosensitivity Peripheral demyelination Dental malocclusion Limitation of joint mobility Polyneuropathy Abnormality of skin pigmentation Dry skin Hypermetropia Abnormality of the curvature of the vertebral column


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