Intrauterine growth retardation, and Optic disc pallor

Diseases related with Intrauterine growth retardation and Optic disc pallor

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


Top matches:

Medium match MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2


Microcephaly and chorioretinopathy-2 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, visual impairment, and short stature (summary by Martin et al., 2014).For a discussion of genetic heterogeneity of microcephaly and chorioretinopathy, see MCCRP1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2; MCCRP2

Medium match AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME


Autosomal recessive chorioretinopathy-microcephaly syndrome is a rare neuro-opthalmological disease characterized by severe microcephaly of prenatal onset (with diminutive anterior fontanelle and sutural ridging), growth retardation, global developmental delay and intellectual disability (ranging from mild to profound), dysmorphic features (sloping forehead, micro/retrognathia, prominent ears) and visual impairments (including microphthalmia to anophtalmia, generalized retinopathy or multiple punched-out retinal lesions, retinal folds with retinal detachment, optic nerve hypoplasia, strabismus, nystagmus). Brain MRI may show reduced cortical size, cerebral hemispheres, corpus callosum, pachygyria, symplified gyral folding or normal pattern. Other associated features include epilepsy and neurological deficits.

AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME Is also known as autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CHORIORETINOPATHY-MICROCEPHALY SYNDROME

Medium match ISOLATED COMPLEX I DEFICIENCY


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

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Other less relevant matches:

Medium match KAUFMAN OCULOCEREBROFACIAL SYNDROME; KOS


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 CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W


CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W Is also known as cdgiw|cdg iw

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW; CDG1W

Medium match STT3B-CDG


STT3B-CDG is a form of congenital disorders of N-linked glycosylation characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties. Genital abnormalities (micropenis, hypoplastic scrotum, undescended testes) have also been reported. STT3B-CDG is caused by mutations in the gene STT3B (3p24.1).

STT3B-CDG Is also known as cdg syndrome type ix|congenital disorder of glycosylation type ix|cdg1x|carbohydrate deficient glycoprotein syndrome type ix|cdg-ix|congenital disorder of glycosylation type 1x

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about STT3B-CDG

Medium match SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME


Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome is a rare genetic neurological disorder characterized by intrauterine growth retardation, failure to thrive, infantile onset of sensorineural deafness, severe global developmental delay or absent psychomotor development, paraplegia or quadriplegia with dystonia and pyramidal signs, microcephaly, ocular abnormalities (strabismus, optic atrophy), mildly dysmorphic features (deep-set eyes, prominent nasal bridge, micrognathia), seizures and abnormalities of brain morphology (hypomyelinating white matter changes, cerebral atrophy).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE MOTOR AND INTELLECTUAL DISABILITIES-SENSORINEURAL DEAFNESS-DYSTONIA SYNDROME

Medium match STT3A-CDG


STT3A-CDG is a form of congenital disorders of N-linked glycosylation characterized by developmental delay, intellectual disability, failure to thrive, hypotonia and seizures. STT3A-CDG is caused by mutations in the gene STT3A (11q23.3).

STT3A-CDG Is also known as congenital disorder of glycosylation type 1w|congenital disorder of glycosylation type iw|cdgix|cdg ix|cdg1w|cdg-iw|cdg syndrome type iw

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about STT3A-CDG

Low match DILATED CARDIOMYOPATHY WITH ATAXIA


Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Low match NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS


NEMMLAS is an autosomal recessive multisystemic disorder characterized by delayed psychomotor development, intellectual disability, and abnormal motor function, including hypotonia, dystonia, ataxia, and spasticity. Patient tissues may show deficiencies in one or more of the mitochondrial oxidative phosphorylation (OXPHOS) enzymes, but this is not a constant finding (summary by Wortmann et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER, MITOCHONDRIAL, WITH ABNORMAL MOVEMENTS AND LACTIC ACIDOSIS, WITH OR WITHOUT SEIZURES; NEMMLAS

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Optic disc pallor

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Optic atrophy Very Common - Between 80% and 100% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Cerebellar atrophy

Uncommon Symptoms - Between 30% and 50% cases


Feeding difficulties Growth delay Strabismus Respiratory distress Hypoglycemia Nystagmus Visual impairment Cerebral atrophy Thrombocytopenia Cryptorchidism Muscular hypotonia of the trunk Intellectual disability, severe Dystonia Cardiomyopathy Micropenis Abnormal facial shape Muscle weakness Ataxia Hearing impairment Abnormal glycosylation Scrotal hypoplasia Hyperreflexia Spasticity Short stature Retinopathy Micrognathia

Rare Symptoms - Less than 30% cases


Aggressive behavior Peripheral neuropathy Skeletal muscle atrophy Microcornea Atrial septal defect Congestive heart failure Encephalopathy Corpus callosum atrophy Tetraplegia Acidosis Cerebellar hypoplasia Abnormality of the genital system Anemia Microphthalmia Feeding difficulties in infancy Cataract Abnormal pyramidal sign Abnormality of eye movement Lactic acidosis Leukoencephalopathy Hepatic steatosis Brain atrophy Wide anterior fontanel Increased serum lactate Sloping forehead Coarctation of aorta Ptosis Hypertonia Ventriculomegaly Absent speech Cortical gyral simplification Cerebral cortical atrophy Pigmentary retinopathy Muscular hypotonia Anteverted nares Sensorineural hearing impairment Postnatal growth retardation Optic nerve hypoplasia Motor delay Macrotia Abnormality of the outer ear Coarse facial features Preauricular skin tag Narrow face Generalized hirsutism Narrow palate Nephrocalcinosis Acanthosis nigricans Gastroesophageal reflux Narrow mouth Coarse hair Polycystic ovaries Mandibular prognathia Poor suck Hyperkeratosis Precocious puberty Sparse eyebrow Clitoral hypertrophy Neonatal respiratory distress Hyperglycemia Metatarsus adductus Abnormality of the thyroid gland Prematurely aged appearance Pes planus Dental crowding Sparse and thin eyebrow Telecanthus Sparse hair Blepharophimosis Coloboma Carious teeth Smooth philtrum Astigmatism Dry skin Long face Abnormality of the pinna Hirsutism Iris coloboma Hyperlordosis Abnormality of the kidney Growth hormone excess Insulin resistance Thick vermilion border Single transverse palmar crease Proteinuria Abdominal distention Intestinal malrotation Dehydration Epidermal acanthosis Fine hair Abnormality of the nervous system Neonatal hypotonia Conductive hearing impairment Hypertrichosis Thin skin Thin upper lip vermilion Postaxial polydactyly Abnormality of the abdominal wall Bell-shaped thorax Glutaric aciduria Aciduria Decreased testicular size Mitral regurgitation Epileptic spasms Prolonged QT interval Hypokinesia Microcytic anemia Perineal hypospadias 3-Methylglutaconic aciduria Microvesicular hepatic steatosis Limb hypertonia Generalized amyotrophy Brisk reflexes Nonprogressive cerebellar ataxia Testicular dysgenesis Dilated cardiomyopathy Noncompaction cardiomyopathy 3-Methylglutaric aciduria Penile hypospadias Normochromic microcytic anemia Delayed speech and language development Tremor Rod-cone dystrophy Rigidity Neurological speech impairment Dysmetria Delayed myelination Spastic tetraplegia Amblyopia Exotropia Sudden cardiac death Arrhythmia Ketoacidosis Female pseudohermaphroditism Progeroid facial appearance Ovoid vertebral bodies Furrowed tongue Bilateral conductive hearing impairment Ovarian cyst Thick nail Long penis Hypocholesterolemia Advanced eruption of teeth Diastema Abnormality of the upper urinary tract Athetosis Broad eyebrow Macrodontia Narrow palm Hypospadias Diffuse cerebral atrophy Impaired smooth pursuit Decreased liver function Cerebral white matter atrophy Cerebral hypomyelination Episodic fever CNS hypomyelination Elevated hepatic transaminase Postprandial hyperglycemia Hyperactivity Multifocal seizures Brachycephaly Onychauxis Long palm Laryngeal stridor Polydactyly Stiff neck Diabetes mellitus Mental deterioration Hernia Patent ductus arteriosus Areflexia Hyporeflexia Babinski sign Pneumonia Agenesis of corpus callosum Myoclonus Respiratory failure Kyphoscoliosis Proximal muscle weakness Myalgia Hypertrophic cardiomyopathy Abnormality of the eye Apnea Vomiting Developmental regression Irritability Pallor Abnormality of the liver Stroke Severe global developmental delay Lethargy Limb muscle weakness Abnormality of movement Talipes Stage 5 chronic kidney disease Hepatic failure Dyskinesia Metabolic acidosis Renal insufficiency Myopathy Abnormal cerebellum morphology Lymphedema Severe short stature Proptosis Prominent nose Hypoplasia of the brainstem Macular atrophy Scoliosis Wide nasal bridge Glaucoma Protruding ear Abnormality of skin pigmentation Retinal dystrophy Retinal detachment Pachygyria Abnormality of retinal pigmentation Pointed chin Blindness Hepatomegaly Edema Respiratory insufficiency Talipes equinovarus Dysphagia Fatigue Macrocephaly Chorioretinal dysplasia Cone/cone-rod dystrophy Retinal fold Vitreoretinopathy Abnormal eyelash morphology Biparietal narrowing Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Coma Progressive cerebellar ataxia Upslanted palpebral fissure Exercise-induced lactic acidemia Severe lactic acidosis Cerebral edema Acute pancreatitis Decreased activity of mitochondrial respiratory chain Axial dystonia Biventricular hypertrophy Infantile encephalopathy Macrovesicular hepatic steatosis Cardiogenic shock Progressive macrocephaly Necrotizing encephalopathy Congenital lactic acidosis Abnormal mitochondria in muscle tissue Acute necrotizing encephalopathy Hypertelorism Increased CSF lactate Low-set ears High palate Depressed nasal bridge Epicanthus Brachydactyly Myopia Ventricular septal defect Hypoplasia of the corpus callosum Short nose Recurrent infections Clinodactyly of the 5th finger Constipation Posteriorly rotated ears Prominent forehead Wolff-Parkinson-White syndrome Nemaline bodies Generalized myoclonic seizures Pancreatitis Gliosis Premature birth Migraine Febrile seizures Cyanosis Congenital diaphragmatic hernia Cardiomegaly Ventricular hypertrophy Left ventricular hypertrophy Leukodystrophy Aspiration Cardiac arrest Horizontal nystagmus Exercise intolerance Shock Aspiration pneumonia Weak cry Cardiorespiratory arrest Mitochondrial myopathy Progressive encephalopathy Optic neuropathy Renal tubular acidosis Basal ganglia calcification Poor eye contact Ragged-red muscle fibers Progressive spasticity Pericardial effusion Global brain atrophy Adrenal insufficiency Oral-pharyngeal dysphagia Incoordination Mitochondrial encephalopathy



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