Hyperreflexia, and Congenital diaphragmatic hernia

Diseases related with Hyperreflexia and Congenital diaphragmatic hernia

In the following list you will find some of the most common rare diseases related to Hyperreflexia and Congenital diaphragmatic hernia that can help you solving undiagnosed cases.


Top matches:

Medium match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME


Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). The disorder is caused by a defect in glycosylphosphatidylinositol biosynthesis; see GPIBD1 (OMIM ). Genetic Heterogeneity of Multiple Congenital Anomalies-Hypotonia-Seizures SyndromeMCAHS2 (OMIM ) is caused by mutation in the PIGA gene (OMIM ) on chromosome Xp22, and MCAHS3 (OMIM ) is caused by mutation in the PIGT gene (OMIM ) on chromosome 20q13.Knaus et al. (2018) provided a review of the main clinical features of the different types of MCAHS, noting that patients with mutations in the PIGN, PIGA, and PIGT genes have distinct patterns of facial anomalies that can be detected by computer-assisted comparison. Some individuals with MCAHS may have variable increases in alkaline phosphatase (AP) as well as variable decreases in GPI-linked proteins that can be detected by flow cytometry. However, there was no clear correlation between AP levels or GPI-linked protein abnormalities and degree of neurologic involvement, mutation class, or gene involved. Knaus et al. (2018) concluded that a distinction between MCAHS and HPMRS1 (OMIM ), which is also caused by mutation in genes involved in GPI biosynthesis, may be artificial and even inaccurate, and that all these disorders should be considered and classified together under the more encompassing term of 'GPI biosynthesis defects' (GPIBD).

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME Is also known as congenital disorder of glycosylation due to pign deficiency|glycosylphosphatidylinositol biosynthesis defect 3|pign-cdg|gpibd3

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME

Low 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

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 1A


CHARCOT-MARIE-TOOTH DISEASE TYPE 1A Is also known as cmt1a|microduplication 17p12|charcot-marie-tooth neuropathy, type 1f

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

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Other less relevant matches:

Low match FAZIO-LONDE DISEASE


Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011).

FAZIO-LONDE DISEASE Is also known as bulbar palsy, progressive, of childhood

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about FAZIO-LONDE DISEASE

Low match SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Cleft palate
  • Low-set ears
  • Depressed nasal bridge
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY; SRTD14

Low match HYPEREKPLEXIA 2; HKPX2


Related symptoms:

  • Seizures
  • Spasticity
  • Motor delay
  • Hyperreflexia
  • Myopia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 2; HKPX2

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29


Autosomal dominant spastic paraplegia type 29 (SPG29) is a complex form of hereditary spastic paraplegia characterized by a spastic paraplegia presenting in adolescence, associated with the additional manifestations of sensorial hearing impairment due to auditory neuropathy and persistent vomiting due to a hiatal or paraesophageal hernia.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29 Is also known as spg29

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 29

Low match HYPEREKPLEXIA 4; HKPX4


Hyperekplexia-4 is an autosomal recessive severe neurologic disorder apparent at birth. Affected infants have extreme hypertonia and appear stiff and rigid. They have little if any development, poor or absent visual contact, and no spontaneous movement, consistent with an encephalopathy. Some patients have early-onset refractory seizures, and many have inguinal or umbilical hernia. Most patients die in the first months of life due to respiratory failure or other complications (summary by Piard et al., 2018).For a general description and a discussion of genetic heterogeneity of hyperekplexia, see HKPX1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Flexion contracture
  • High palate
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about HYPEREKPLEXIA 4; HKPX4

Low match HEREDITARY HYPEREKPLEXIA


Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

HEREDITARY HYPEREKPLEXIA Is also known as hereditary hyperexplexia|familial startle disease|kok disease|startle disease, familial|stiff baby syndrome|exaggerated startle reaction|sthe|congenital stiff man syndrome|stiff-baby syndrome|stiff-person syndrome, congenital|startle reaction, exaggerated

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Low match BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1


Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth (more rarely the third, fifth, and sixth) cranial nerves. Spinal motor nerves and, less commonly, upper motor neurons are sometimes affected, giving a picture resembling amyotrophic lateral sclerosis (ALS ). The onset of the disease is usually in the second decade, but earlier and later onset have been reported. Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise. However, patients with very early onset may present with bulbar palsy and may not develop hearing loss until later. The symptoms, severity, and disease duration are variable (summary by Green et al., 2010). Genetic Heterogeneity of Brown-Vialetto-Van Laere SyndromeSee also BVVLS2 (OMIM ), caused by mutation in the SLC52A2 gene (OMIM ) on chromosome 8q.

BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1 Is also known as bulbar palsy, progressive, with sensorineural deafness|pontobulbar palsy with deafness

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about BROWN-VIALETTO-VAN LAERE SYNDROME 1; BVVLS1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hyperreflexia and Congenital diaphragmatic hernia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypertonia Hearing impairment Sensorineural hearing impairment Muscle weakness Respiratory insufficiency Hyporeflexia Myoclonus Encephalopathy Babinski sign Respiratory failure Dysphagia Peripheral neuropathy Ptosis Kyphoscoliosis Diaphragmatic weakness Ataxia Hiatus hernia Exaggerated startle response Gastroesophageal reflux Respiratory distress Oral-pharyngeal dysphagia Atrial septal defect Global developmental delay Cerebellar atrophy

Rare Symptoms - Less than 30% cases


Cerebral atrophy Cleft palate Low-set ears Agenesis of corpus callosum High palate Areflexia Depressed nasal bridge Vomiting Edema Macrocephaly Tremor Fatigue Skeletal muscle atrophy Inguinal hernia Umbilical hernia Rigidity Muscular hypotonia Short neck Abnormal facial shape Clonus Proximal muscle weakness Amyotrophic lateral sclerosis Gait disturbance Pes cavus Nystagmus Facial palsy Paralysis Progressive muscle weakness Micrognathia Stridor Bulbar palsy Apnea Aspiration Gliosis Abnormal cerebellum morphology Abnormality of movement Limb muscle weakness Hyperactivity Abnormal pyramidal sign Pallor Failure to thrive Motor delay Polyhydramnios Abnormality of the pinna Brain atrophy Pulmonary hypoplasia Fasciculations Delayed myelination Muscular hypotonia of the trunk Cleft lip Patent ductus arteriosus Short ribs Vocal cord paralysis Hypoventilation Preaxial polydactyly Facial diplegia Axial muscle weakness Diaphragmatic paralysis Inspiratory stridor Neck muscle weakness Generalized hyperreflexia Progressive inspiratory stridor Hydrocephalus Abnormality of the skeletal system Polydactyly Micropenis Tongue fasciculations Narrow chest Micromelia Oral cleft Polymicrogyria Postaxial polydactyly Cerebellar vermis hypoplasia Ankle clonus Hydrops fetalis Coloboma Falls Bilateral ptosis Gait imbalance Knee clonus Distal muscle weakness Paresthesia Distal amyotrophy Distal sensory impairment Sensory impairment Infantile muscular hypotonia Decreased motor nerve conduction velocity Calf muscle hypertrophy Decreased number of peripheral myelinated nerve fibers Onion bulb formation Hyperactive deep tendon reflexes Demyelinating peripheral neuropathy Sensory ataxia Molar tooth sign on MRI Progressive peripheral neuropathy Nocturnal hypoventilation Segmental peripheral demyelination/remyelination Decreased sensory nerve conduction velocity Axonal regeneration Myelin outfoldings Shoulder pain Acute demyelinating polyneuropathy Spontaneous pain sensation Clusters of axonal regeneration Hand muscle atrophy Weak voice Generalized muscle weakness Tongue atrophy Thoracic hypoplasia Retinal coloboma Anencephaly Joint dislocation Hyperreflexia in upper limbs Esophagitis Nocturia Kernicterus Atonic seizures Urinary hesitancy Hypokinesia Loss of consciousness Abnormality of the rectum Myotonia Abnormality of the lower urinary tract Flexion contracture Congenital hip dislocation Myokymia Muscle stiffness Camptodactyly Arthrogryposis multiplex congenita Hypsarrhythmia Frequent falls Adducted thumb Epileptic encephalopathy Brisk reflexes Distal arthrogryposis Sleep disturbance Fever Anxiety Joint stiffness Neonatal hyperbilirubinemia Upper limb spasticity Upper limb undergrowth Glabellar reflex Thoracic dysplasia Hip dislocation Aplastic clavicle Short upper lip Myopia Axonal degeneration Astigmatism Myopathic facies Esotropia Meningitis Cranial nerve paralysis Hypertelorism External ophthalmoplegia Clumsiness Impaired proprioception Spastic paraplegia Paraplegia Urinary incontinence Ophthalmoplegia Recurrent respiratory infections Hyperbilirubinemia Exercise-induced lactic acidemia Kyphosis Dysarthria Urinary urgency Scoliosis Nocturnal seizures Lower limb hyperreflexia Impaired vibratory sensation Nemaline bodies Acute necrotizing encephalopathy Intrauterine growth retardation Hydrocele testis Vertical nystagmus Hoarse cry Large fleshy ears Hypoplasia of the corpus callosum Growth delay Strabismus Anteverted nares Ventriculomegaly Anemia Feeding difficulties Visual impairment Frontal bossing Hepatomegaly Optic atrophy Anal stenosis Pneumonia Mental deterioration Abnormality of the eye Hypertrophic cardiomyopathy Myalgia Hypoglycemia Acidosis Renal insufficiency Talipes equinovarus Dystonia Congestive heart failure Myopathy Blindness Cardiomyopathy Epicanthus Limb hypertonia Cystic hygroma Developmental regression Anal atresia Long philtrum Short nose Posteriorly rotated ears Upslanted palpebral fissure Brachycephaly Splenomegaly Macrotia Coarse facial features Neonatal hypotonia Hydronephrosis Wide mouth Abnormal cardiac septum morphology Prominent nasal bridge Synophrys Thin vermilion border Prominent occiput Amblyopia Cupped ear Overfolded helix Focal impaired awareness seizure Patent foramen ovale Abnormality of the urinary system Tented upper lip vermilion Choreoathetosis Flat face Open mouth Narrow forehead Focal-onset seizure Vesicoureteral reflux Short foot Short distal phalanx of finger Feeding difficulties in infancy Irritability Abnormal mitochondria in muscle tissue Absent speech Incoordination Adrenal insufficiency Global brain atrophy Pericardial effusion Progressive spasticity Poor eye contact Weak cry Basal ganglia calcification Renal tubular acidosis Optic neuropathy Progressive encephalopathy Mitochondrial myopathy Cardiorespiratory arrest Aspiration pneumonia Increased CSF lactate Leukoencephalopathy Biventricular hypertrophy Congenital lactic acidosis Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Infantile encephalopathy Axial dystonia Wolff-Parkinson-White syndrome Decreased activity of mitochondrial respiratory chain Stiff neck Acute pancreatitis Cerebral edema Severe lactic acidosis Corpus callosum atrophy Ragged-red muscle fibers Shock Abnormality of the liver Generalized myoclonic seizures Retinopathy Stroke Severe global developmental delay Lethargy Abnormality of eye movement Talipes Stage 5 chronic kidney disease Lactic acidosis Hepatic failure Dyskinesia Hepatic steatosis Metabolic acidosis Coma Progressive cerebellar ataxia Premature birth Pancreatitis Ventricular hypertrophy Exercise intolerance Horizontal nystagmus Cardiac arrest Leukodystrophy Wide anterior fontanel Left ventricular hypertrophy Coarctation of aorta Migraine Cardiomegaly Optic disc pallor Pigmentary retinopathy Cyanosis Febrile seizures Increased serum lactate Cranial nerve motor loss



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Proptosis, related diseases and genetic alterations Dysarthria and Encephalopathy, related diseases and genetic alterations

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