Hyperreflexia, and Polyhydramnios

Diseases related with Hyperreflexia and Polyhydramnios

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

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Spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) is an autosomal dominant neurologic disorder characterized by rapid growth in infancy, global developmental delay, spastic paraplegia, variable ophthalmologic defects, and dysmorphic facial features (summary by Josifova et al., 2016).

SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME Is also known as sino syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-INTELLECTUAL DISABILITY-NYSTAGMUS-OBESITY SYNDROME

Pontocerebellar hypoplasia (PCH) represents a heterogeneous group of disorders characterized by an abnormally small cerebellum and brainstem. PCH type 2 is characterized by progressive microcephaly from birth combined with extrapyramidal dyskinesia and chorea, epilepsy, and normal spinal cord findings (Barth, 1993).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1 (OMIM ). Genetic Heterogeneity of Pontocerebellar Hypoplasia Type 2PCH2B (OMIM ) is caused by mutation in the TSEN2 gene (OMIM ) on chromosome 3p25, and PCH2C (OMIM ) is caused by mutation in the TSEN34 gene (OMIM ) on chromosome 19q13. PCH2D (OMIM ) is caused by mutation in the SEPSECS gene (OMIM ) on chromosome 4p15. PCH2E (OMIM ) is caused by mutation in the VPS53 gene (OMIM ) on chromosome 17p13. PCH2F (OMIM ) is caused by mutation in the TSEN15 gene (OMIM ) on chromosome 1q25. The TSEN2 and TSEN34 genes encode catalytic subunits of the tRNA splicing endonuclease, whereas the TSEN54 gene encodes a noncatalytic subunit. The SEPSECS gene is also involved in tRNA processing.

PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A Is also known as pch2|volendam neurodegenerative disease|pontocerebellar hypoplasia with progressive cerebral atrophy

Related symptoms:

  • Seizures
  • Microcephaly
  • Failure to thrive
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2A; PCH2A

Autosomal recessive primary microcephaly-17 (MCPH17) is a severe neurologic disorder characterized by very small head circumference that is apparent at birth and worsens over time (up to -12 SD). Affected individuals have delayed psychomotor development, intellectual disability, spasticity, axial hypotonia, and dysmorphic features. Brain imaging shows a simplified gyral pattern; more severe cases have lissencephaly with hypoplasia of the brainstem and cerebellum (summary by Harding et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of primary microcephaly, see MCPH1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17

Other less relevant matches:

Pontocerebellar hypoplasia type 1 (PCH1), also known as Norman's disease, is a clinically and genetically heterogeneous group of autosomal recessive disorders with a prenatal onset characterized by diffuse muscular atrophy secondary to pontocerebellar hypoplasia and spinal cord anterior horn cell degeneration resulting in early death.

PONTOCEREBELLAR HYPOPLASIA TYPE 1 Is also known as pch1|norman disease|pontocerebellar hypoplasia with infantile spinal muscular atrophy|pontocerebellar hypoplasia with anterior horn cell disease

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 1

Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Hereditary motor and sensory neuropathy type VIB is an autosomal recessive complex progressive neurologic disorder characterized mainly by early-onset optic atrophy resulting in progressive visual loss and peripheral axonal sensorimotor neuropathy with highly variable age at onset and severity. Affected individuals also have cerebellar or pontocerebellar atrophy on brain imaging, and they may show abnormal movements, such as ataxia, dysmetria, and myoclonus. The most severely affected patients are hypotonic at birth and die in infancy (summary by Abrams et al., 2015 and Wan et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of HMSN6, see HMSN6A (OMIM ).

NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B Is also known as hmsn vib|charcot-marie-tooth disease, type 6b|cmt6b

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MENDELIAN

More info about NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIB; HMSN6B

Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

KEPPEN-LUBINSKY SYNDROME Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about KEPPEN-LUBINSKY SYNDROME

Heart and brain malformation syndrome is a severe autosomal recessive multiple congenital anomaly syndrome characterized by profoundly delayed psychomotor development, dysmorphic facial features, microphthalmia, cardiac malformations, mainly septal defects, and brain malformations, including Dandy-Walker malformation (summary by Shaheen et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HEART AND BRAIN MALFORMATION SYNDROME; HBMS

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

Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Polyhydramnios

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Hypertonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Polyhydramnios. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Failure to thrive

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Abnormal facial shape Growth delay Nystagmus Cerebral atrophy Muscular hypotonia of the trunk Visual impairment High palate Scoliosis Cerebellar hypoplasia Hypertelorism Tented upper lip vermilion Gastroesophageal reflux Optic atrophy Depressed nasal bridge Feeding difficulties in infancy Severe global developmental delay Macrotia Low-set ears Micrognathia Muscle weakness Dysphagia Respiratory insufficiency Hyporeflexia Respiratory failure Anteverted nares Respiratory distress Narrow forehead Hypoplasia of the corpus callosum Feeding difficulties Limb hypertonia Ventriculomegaly Delayed speech and language development

Rare Symptoms - Less than 30% cases

Pes cavus Pulmonary hypoplasia Respiratory tract infection Hyperlordosis Neonatal hypotonia Deeply set eye Areflexia Recurrent respiratory infections Tremor Abnormality of the skeletal system EMG: neuropathic changes Congenital contracture Decreased fetal movement Sensory neuropathy Paralysis Talipes equinovarus Delayed myelination Mask-like facies Prominent forehead Cerebellar atrophy Brain atrophy Brachycephaly Short nose Short neck Frontal bossing Macrocephaly Cleft palate Prominent occiput Abnormal cardiac septum morphology Midface retrusion Abnormality of the pinna Cleft lip Posteriorly rotated ears Recurrent pneumonia Open mouth Proptosis Agenesis of corpus callosum Peripheral neuropathy Skeletal muscle atrophy High, narrow palate Muscular hypotonia Dyskinesia Hypoplasia of the ventral pons Hypoplasia of the pons Wide nasal bridge Arthrogryposis multiplex congenita Poor speech Irritability Bulbous nose Opisthotonus Abnormality of the cerebral white matter Myoclonus Poor suck Ataxia Cerebellar vermis hypoplasia Progressive microcephaly Prominent nasal bridge Flat face Thin vermilion border Anal atresia Synophrys Hydronephrosis Wide mouth Coarse facial features Abnormal CNS myelination Abnormality of the forehead Upslanted palpebral fissure Patent ductus arteriosus Short distal phalanx of finger Vesicoureteral reflux Short foot Absent speech Focal-onset seizure Congenital diaphragmatic hernia Choreoathetosis Amblyopia Abnormality of the urinary system Patent foramen ovale Focal impaired awareness seizure Overfolded helix Cupped ear Cystic hygroma Anal stenosis Hydrocele testis Hernia Gliosis Long philtrum Prominent metopic ridge Camptodactyly of finger Everted lower lip vermilion Sepsis Chorea Dandy-Walker malformation Interphalangeal joint contracture of finger Thick lower lip vermilion Wide anterior fontanel Aplasia/Hypoplasia of the corpus callosum Global brain atrophy Partial agenesis of the corpus callosum Poor eye contact Hyperactive deep tendon reflexes Widow's peak Camptodactyly Delayed CNS myelination Interrupted aortic arch Hand clenching Microphthalmia Epicanthus Cerebral cortical atrophy Ventricular septal defect Hoarse cry Clonus Dilation of lateral ventricles Atrial septal defect Splenomegaly Dystonia Vertical nystagmus Brachydactyly Large fleshy ears Elbow dislocation Progressive spasticity Tibial bowing Spondyloepiphyseal dysplasia Flat occiput Clubbing Oral-pharyngeal dysphagia Short metatarsal Short humerus Hyperkinesis Disproportionate short-limb short stature Drooling Abnormality of the outer ear Joint dislocation Absence seizures Atonic seizures Loss of speech Meningitis Long clavicles Multinucleated giant chondrocytes in epiphyseal cartilage Club-shaped proximal femur Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Fibular aplasia Bell-shaped thorax Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae 11 pairs of ribs Short femur Radial bowing Muscle stiffness Aspiration Pain Depressivity Autism Weight loss Abdominal pain Severe short stature Pneumonia Constipation Hypospadias Skeletal dysplasia Recurrent infections Malar flattening Vomiting Gait disturbance Tented philtrum Cryptorchidism Mandibular prognathia Anxiety Sinusitis Short metacarpal Rhizomelia Recurrent urinary tract infections Encephalocele Lumbar hyperlordosis Limb undergrowth Otitis media Premature birth Autistic behavior Generalized myoclonic seizures Abdominal distention Inability to walk Nausea Talipes Narrow chest Generalized tonic-clonic seizures Narrow nasal tip Prominent nasal tip Loss of facial adipose tissue Delayed gross motor development Progressive spastic paraplegia Falls Genu valgum Limb muscle weakness Dilated cardiomyopathy Cough Plagiocephaly Waddling gait Apnea Facial palsy Hypertrophic cardiomyopathy Proximal muscle weakness Rigidity Retrognathia Generalized muscle weakness Frequent falls Optic disc pallor Myotonia Thin ribs Spinal rigidity Bulbar palsy Mildly elevated creatine phosphokinase Myopathic facies Short stature Akinesia Joint contracture of the hand EMG: myopathic abnormalities Infantile muscular hypotonia Respiratory insufficiency due to muscle weakness Knee flexion contracture Foot dorsiflexor weakness Narrow face Intrauterine growth retardation Spastic paraplegia Facial diplegia Sleep disturbance Brisk reflexes Spinal muscular atrophy Renal agenesis Fasciculations Limb ataxia Sloping forehead Lissencephaly Enlarged cisterna magna Abnormality of the foot Hypoplasia of the brainstem Intellectual disability, mild Full cheeks Cortical gyral simplification Decreased head circumference Thick vermilion border Tongue fasciculations Pectus excavatum Paraplegia Congestive heart failure Myopathy Edema Cardiomyopathy Hypermetropia Motor delay Astigmatism Degeneration of anterior horn cells Intercostal muscle weakness Basal ganglia gliosis Neuronal loss in basal ganglia Mitochondrial respiratory chain defects Olivopontocerebellar hypoplasia Abnormal anterior horn cell morphology Hypoventilation Fetal akinesia sequence Congenital generalized lipodystrophy Abnormality of eye movement Restlessness Intellectual disability, profound Decreased testicular size Febrile seizures Underdeveloped nasal alae Esophoria Short philtrum Gingival overgrowth Postnatal growth retardation Dyspnea Abnormality of the periventricular white matter Intellectual disability, severe Obesity Trophic changes related to pain Thin skin Spastic tetraparesis Cone dysfunction syndrome Upper airway obstruction Absence of subcutaneous fat Generalized lipodystrophy Esotropia Narrow naris Narrow nasal ridge Dimple chin Abnormally large globe Increased susceptibility to fractures Premature skin wrinkling Progeroid facial appearance Self-mutilation Shallow orbits Narrow nasal bridge Lipodystrophy Pontocerebellar atrophy Absent Achilles reflex Nemaline bodies Late-onset distal muscle weakness Babinski sign Visual loss Extrapyramidal dyskinesia Reduced visual acuity Cerebellar hemisphere hypoplasia Hearing impairment Percussion myotonia Difficulty walking Fetal distress Diaphragmatic paralysis Neck flexor weakness Slender build Breech presentation Type 1 muscle fiber predominance Acidosis Pallor Inverted nipples Peripheral demyelination Atrophy/Degeneration affecting the brainstem Steppage gait Impaired smooth pursuit Narrow palate Sensorimotor neuropathy Exotropia Progressive visual loss Dysmetria Sensory impairment Polyneuropathy Tapered finger Distal sensory impairment Distal amyotrophy Lactic acidosis Distal tapering femur


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