Intrauterine growth retardation, and Peripheral axonal neuropathy

Diseases related with Intrauterine growth retardation and Peripheral axonal neuropathy

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

Top matches:

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

Combined oxidative phosphorylation deficiency type 3 is an extremely rare clinically heterogenous disorder described in about 5 patients to date. Clinical signs included hypotonia, lactic acidosis, and hepatic insufficiency, with progressive encephalomyopathy or hypertrophic cardiomyopathy.

FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3 Is also known as fatal mitochondrial disease due to coxpd3|encephalomyopathy, respiratory failure, and lactic acidosis|concentric cardiomyopathy, hypotonia, and lactic acidosis

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL MITOCHONDRIAL DISEASE DUE TO COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 3

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

Other less relevant matches:

Alpers Huttenlocher syndrome (AHS) is a cerebrohepatopathy and a rare and severe form of mitochondrial DNA (mtDNA) depletion syndrome characterized by the triad of progressive developmental regression, intractable seizures, and hepatic failure.

ALPERS-HUTTENLOCHER SYNDROME Is also known as alpers syndrome|alpers-huttenlocher syndrome|pndc|alpers progressive infantile poliodystrophy|progressive neuronal degeneration of childhood with liver disease|neuronal degeneration of childhood with liver disease, progressive|alpers diffuse degeneration

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALPERS-HUTTENLOCHER SYNDROME

Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.

CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME Is also known as ccfdn|cataract, congenital, with facial dysmorphism and neuropathy

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACTS-FACIAL DYSMORPHISM-NEUROPATHY SYNDROME

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (summary by Sferra et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME

Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY Is also known as gde deficiency|gsd due to glycogen debranching enzyme deficiency|cori-forbes disease|glycogenosis type iii|glycogen storage disease type 3|gsd type 3|limit dextrinosis|glycogen storage disease type iii|glycogenosis type 3|glycogenosis due to glycogen debr

Related symptoms:

  • Short stature
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN DEBRANCHING ENZYME DEFICIENCY

Distal arthrogryposis with impaired proprioception and touch is an autosomal recessive neurologic disorder characterized by loss of certain mechanosensation modalities resulting in ataxia, difficulty walking, dysmetria, muscle weakness and atrophy, and progressive skeletal contractures. Patients have onset of symptoms in early childhood (summary by Chesler et al., 2016 and Delle Vedove et al., 2016).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, WITH IMPAIRED PROPRIOCEPTION AND TOUCH; DAIPT

Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects, and mental retardation (summary by Niihori et al., 2006). In a phenotypic comparison of BRAF (OMIM )-positive and KRAS-positive individuals with CFC, Niihori et al. (2006) observed that patients with KRAS mutations did not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma, that were present in patients with BRAF mutation.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME 2; CFC2

Top 5 symptoms//phenotypes associated to Intrauterine growth retardation and Peripheral axonal neuropathy

Symptoms // Phenotype % cases
Peripheral neuropathy Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Motor delay

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Cognitive impairment Generalized hypotonia Muscular hypotonia Muscle weakness Feeding difficulties Hearing impairment Cardiomyopathy Seizures Dysarthria Scoliosis Severe muscular hypotonia Dysmetria Sensory neuropathy Hepatomegaly Optic atrophy Distal amyotrophy Encephalopathy Tremor Ventriculomegaly Failure to thrive Lactic acidosis Talipes equinovarus Respiratory insufficiency Respiratory failure

Rare Symptoms - Less than 30% cases

High forehead Intellectual disability, mild Abnormality of the skeletal system Babinski sign Generalized tonic-clonic seizures High palate Abnormal facial shape Rhabdomyolysis Cataract Retinopathy Deeply set eye Arthrogryposis multiplex congenita Cerebral atrophy Hepatic fibrosis Long nose Focal-onset seizure Abnormality of lipid metabolism Slurred speech Developmental regression Broad-based gait Elevated hepatic transaminase Rigidity Progressive encephalopathy Areflexia Cerebellar atrophy Strabismus Fever Micrognathia Microcephaly Broad nasal tip Thin upper lip vermilion Sparse hair Neurodevelopmental delay Hypogonadism Bilateral ptosis Apraxia Nystagmus Coma Pes cavus Sensory axonal neuropathy Decreased fetal movement Polyneuropathy Small for gestational age Postural tremor Camptodactyly of finger Distal muscle weakness Hypergonadotropic hypogonadism Paralysis Spinal muscular atrophy Axonal degeneration Abnormality of the foot Immunodeficiency Decreased testicular size Midface retrusion Hypoplasia of the corpus callosum Increased serum lactate Dilated cardiomyopathy Skeletal muscle atrophy Flexion contracture Abnormal pyramidal sign Elevated serum creatine phosphokinase Hypoglycemia Acidosis Renal hypoplasia Epidermal acanthosis Hypotelorism Acanthosis nigricans Sloping forehead Dysdiadochokinesis Bradykinesia Neoplasm Cutaneous photosensitivity Peripheral hypomyelination Goiter Leukopenia Malar prominence Acute rhabdomyolysis Upper limb postural tremor Abnormal lung morphology Insulin resistance Recurrent myoglobinuria Lymphopenia Bone marrow hypocellularity Short chin Pigmentary retinopathy Micropenis Limb undergrowth Delayed speech and language development Diabetes mellitus Mandibular prognathia Severe short stature Inguinal hernia Clinodactyly Obesity Hernia Thrombocytopenia Recurrent infections Long philtrum Gait disturbance Postnatal growth retardation Attention deficit hyperactivity disorder Convex nasal ridge Short philtrum Prominent nasal bridge Hypermetropia Synophrys Long face Falls Triangular face Anemia Unilateral renal agenesis Cryptorchidism Progressive cerebellar ataxia Sensorineural hearing impairment Renal agenesis Hypothyroidism Progressive spastic paraparesis Bilateral cryptorchidism Narrow nasal bridge Ptosis Hypertelorism Impaired tactile sensation Sensory ataxia Impaired proprioception Distal arthrogryposis Delayed ability to walk Myopathic facies Myopia Impaired vibratory sensation Poor head control Sandal gap Joint contracture of the hand Hip dysplasia Inability to walk Unsteady gait Arachnodactyly Low-set ears Macrocephaly Difficulty walking Pulmonic stenosis Arthropathy Curly hair Absent eyebrow Sparse eyebrow Hemangioma Fine hair Mitral valve prolapse Ichthyosis Broad forehead Downslanted palpebral fissures Low-set, posteriorly rotated ears Coarse facial features Proptosis Hyperkeratosis Posteriorly rotated ears Atrial septal defect Short neck Anteverted nares Camptodactyly Pes planus High pitched voice Glioma Spastic tetraparesis Foot dorsiflexor weakness Spastic tetraplegia Tetraplegia Long neck Gastrointestinal stroma tumor Multinodular goiter Chronic lung disease Hypoparathyroidism Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Cerebellar vermis atrophy Truncal obesity Cortical gyral simplification Ectopic kidney Mutism Spastic ataxia Wide nasal bridge Cardiomegaly Increased hepatic glycogen content Sinus tachycardia Increased muscle fatiguability Hyperlipidemia Exercise intolerance Left ventricular hypertrophy Hypertriglyceridemia Ventricular hypertrophy Full cheeks Motor polyneuropathy Thin vermilion border Hepatosplenomegaly Myopathy Depressed nasal bridge Iron accumulation in substantia nigra EMG: chronic denervation signs Difficulty standing Anarthria Abnormality of the cervical spine Kyphosis Abnormality of peripheral nerve conduction Dehydration Autoimmune antibody positivity Ketonuria Renal tubular dysfunction Prominent metopic ridge Glycosuria Hyperglycemia Generalized myoclonic seizures Microalbuminuria Downturned corners of mouth Weight loss Abnormal heart morphology Intellectual disability, severe Decreased activity of mitochondrial complex IV Decreased activity of mitochondrial complex III Concentric hypertrophic cardiomyopathy Abnormality of the upper urinary tract Hypovolemia Severe lactic acidosis Visual loss Jaundice Retrognathia Hyperactivity Myoclonus Dementia Pneumonia Hypertonia Pancreatic hypoplasia Vomiting Blindness Dysphagia Spasticity Reduced pancreatic beta cells Contractures of the joints of the lower limbs Neonatal insulin-dependent diabetes mellitus Decreased activity of mitochondrial complex I Optic neuropathy Abnormality of the liver Premature birth Recurrent lower respiratory tract infections Hypoventilation Weak cry Decreased nerve conduction velocity Tachypnea Progressive muscle weakness Urinary incontinence Degeneration of anterior horn cells Lower limb muscle weakness Limb muscle weakness Hyperhidrosis Constipation Hyporeflexia Respiratory distress Pain EMG: neuropathic changes Diaphragmatic eventration Apathy Patent ductus arteriosus Patent foramen ovale Ragged-red muscle fibers Sensorimotor neuropathy Metabolic acidosis Feeding difficulties in infancy Hypertrophic cardiomyopathy Neonatal hypotonia Dystonia Diaphragmatic paralysis Visual impairment Denervation of the diaphragm Ventilator dependence with inability to wean Peripheral axonal degeneration Nocturnal hypoventilation Diaphragmatic weakness Inspiratory stridor Abnormality of the eye Abnormality of movement Decreased serum estradiol Microphthalmia Congenital cataract Myalgia Proximal muscle weakness Kyphoscoliosis Cerebral cortical atrophy Osteoporosis Abnormality of the dentition Small hand Cerebral cortical neurodegeneration Ethylmalonic aciduria Epilepsia partialis continua Phonic tics Cerebral degeneration Multifocal seizures Chronic hepatitis Paresthesia Microcornea Micronodular cirrhosis CNS hypomyelination Motor axonal neuropathy Genu recurvatum Malignant hyperthermia Myoglobinuria Axonal loss Secondary amenorrhea Decreased motor nerve conduction velocity Hypogonadotrophic hypogonadism Chorea Long eyelashes Split hand Primary amenorrhea Intention tremor Interphalangeal joint contracture of finger Amenorrhea Peripheral demyelination Gastric ulcer Microvesicular hepatic steatosis Cirrhosis Generalized-onset seizure Cholestasis Choreoathetosis Progressive neurologic deterioration Hemiparesis Status epilepticus Hepatitis Neuronal loss in central nervous system Decreased liver function Epileptic encephalopathy Memory impairment Aciduria Brain atrophy Gliosis Neurodegeneration Hepatic failure Clumsiness Cerebral visual impairment 3-Methylglutaconic aciduria Abnormality of visual evoked potentials Bile duct proliferation Astrocytosis Gastrointestinal dysmotility Tics Fetal akinesia sequence Severe failure to thrive Increased CSF protein Celiac disease Paraparesis Progressive spasticity Spastic diplegia Akinesia Encephalitis Abnormality of vision Intellectual disability, progressive Spastic paraparesis Neuropathic arthropathy


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