Hyperreflexia, and Pectus excavatum

Diseases related with Hyperreflexia and Pectus excavatum

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

Top matches:

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

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Autosomal dominant mental retardation-44 is characterized by mildly delayed global development, resulting in variable intellectual deficits or learning difficulties, distinctive facial features, and abnormalities of the fingers, particularly brachydactyly, tapering fingers, and broad interphalangeal joints. Most patients also have microcephaly; additional features are highly variable (summary by Ba et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROGNATHIA-RECURRENT INFECTIONS-BEHAVIORAL ABNORMALITIES-MILD INTELLECTUAL DISABILITY SYNDROME

Other less relevant matches:

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES; ISDNA

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

Medium match ALG3-CDG

ALG3-CDG is a form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC, see this term), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). ALG3-CDG is caused by loss of function mutations of the gene ALG3 (3q27.3).

ALG3-CDG Is also known as cdgid|cdg id|cdgs, type iv, formerly|cdgs4, formerly|carbohydrate-deficient glycoprotein syndrome, type iv, formerly|congenital disorder of glycosylation type id|congenital disorder of glycosylation type 1d|cdg syndrome type id|cdg-id|mannosyltransferase

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALG3-CDG

Syndromic X-linked intellectual disability due to JARID1C mutation is characterised by mild to severe intellectual deficit associated with variable clinical manifestations including spasticity, cryptorchidism, maxillary hypoplasia, alopecia areata, epilepsy, short stature, impaired speech and behavioural problems. To date, it has been described in less than 15 families. Transmission is X-linked recessive and the syndrome is caused by mutations in the JARID1C (SMCX) gene encoding a JmjC-domain protein with histone demethylase activity.

SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION Is also known as mental retardation, x-linked, syndromic, jarid1c-related|mrxsj

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SYNDROMIC X-LINKED INTELLECTUAL DISABILITY DUE TO JARID1C MUTATION

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

Autosomal recessive spastic paraplegia type 20 (SPG20) is a type of complex hereditary spastic paraplegia characterized by an onset in infancy of progressive spastic paraparesis associated with distal amyotrophy, psuedobulbar palsy, motor and cognitive delays, mild cerebellar signs (dysarthria, dysdiadochokinesia, mild intention tremor), short stature and subtle skeletal abnormalities (pes cavus, mild talipes equinovarus, kyphoscoliosis). SPG20 is due to mutations in the SPG20 gene (13q13.1), which encodes the protein spartin.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20 Is also known as troyer syndrome|childhood-onset spastic paraparesis-distal muscle wasting syndrome|spastic paraparesis, childhood-onset, with distal muscle wasting|spg20|spastic paraplegia, autosomal recessive, troyer type

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 20

MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Top 5 symptoms//phenotypes associated to Hyperreflexia and Pectus excavatum

Symptoms // Phenotype % cases
Microcephaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Macrotia Motor delay Spasticity Epicanthus Gait ataxia Absent speech Clinodactyly Delayed speech and language development Abnormality of the foot Abnormal facial shape Brachydactyly Intellectual disability, severe Short stature Abnormality of the skeletal system Dysphagia High palate Narrow face Cerebellar atrophy Babinski sign Joint contracture of the hand Spastic paraplegia Dysarthria Intellectual disability, progressive Clonus Severe global developmental delay Paraplegia Muscular hypotonia Poor speech Drooling Micrognathia Arthrogryposis multiplex congenita Strabismus Skeletal muscle atrophy Kyphoscoliosis Downslanted palpebral fissures Feeding difficulties in infancy Failure to thrive Feeding difficulties Upslanted palpebral fissure Growth delay Nystagmus Muscle weakness

Rare Symptoms - Less than 30% cases

Dystonia Scoliosis Cryptorchidism Abnormality of the eye Hypertelorism Autism Deeply set eye Abnormality of the hand Mandibular prognathia Thick eyebrow Long face Short distal phalanx of finger Sleep disturbance Tapered finger Synophrys Coarse facial features Abnormality of the nervous system Muscular hypotonia of the trunk Aggressive behavior Thin upper lip vermilion Pes planus Thick vermilion border Recurrent infections Kyphosis Behavioral abnormality Depressed nasal bridge Urinary incontinence Full cheeks Prominent nose Choreoathetosis Bowel incontinence Adducted thumb Truncal ataxia Skeletal dysplasia Decreased body weight Involuntary movements Open mouth Generalized-onset seizure Cerebral calcification Intellectual disability, mild Hypoplasia of the corpus callosum Infantile muscular hypotonia Short foot Type I diabetes mellitus Neonatal hypotonia Myopathic facies Hypertrophic cardiomyopathy Talipes equinovarus Optic atrophy Camptodactyly of finger Pes cavus Protruding ear Hyperlordosis Respiratory tract infection Wide nasal bridge Cognitive impairment Genu valgum Falls Abnormality of the pinna Generalized muscle weakness Recurrent respiratory infections Hypothyroidism Cardiomyopathy Hyporeflexia Respiratory distress Dysmetria Hypertonia Ataxia Delayed myelination Interphalangeal joint contracture of finger Abnormality of vision Food intolerance Hyperactive deep tendon reflexes CNS hypomyelination Central hypotonia Poor head control Myopia Athetosis Hypoplastic nipples Hallux valgus Long fingers Biparietal narrowing Aphasia Generalized amyotrophy Clinodactyly of the 5th toe Severe vision loss Type I transferrin isoform profile Muscle stiffness Decreased light- and dark-adapted electroretinogram amplitude Villous atrophy Portal fibrosis Micropenis Bilateral single transverse palmar creases Lower limb hyperreflexia High, narrow palate Hypoplasia of the maxilla Low frustration tolerance Lower limb hypertonia Decreased testicular size Alopecia areata Large hands Progressive spastic paraplegia Talipes calcaneovarus Multiple cafe-au-lait spots Restlessness Facial hypotonia Distal lower limb amyotrophy Diastema Furrowed tongue Shuffling gait Small forehead Short palm Leukodystrophy Abnormality of movement Spastic tetraplegia Narrow forehead Macrocephaly Macroorchidism Increased serum lactate Tetraplegia Inability to walk Intellectual disability, moderate Ptosis Joint stiffness Irritability Proptosis Prominent nasal bridge Malar flattening Gait disturbance Hypermetropia Smooth philtrum Hypoplasia of the zygomatic bone Psychosis Abnormality of the neck Short neck Telecanthus Proteinuria Hepatosplenomegaly Prominent forehead Abnormal heart morphology Patent ductus arteriosus Thrombocytopenia Splenomegaly Atrial septal defect Hepatomegaly Pectus carinatum Anemia Hyperplasia of midface Hyperextensible hand joints Morphea Suicidal ideation Narrow jaw Panic attack Knee clonus Abnormal hand morphology Abnormal pyramidal sign Hip dislocation Abnormality of the nares Barrel-shaped chest Obstructive lung disease J-shaped sella turcica Macrovesicular hepatic steatosis Acetabular dysplasia Flared iliac wings Large forehead Beaking of vertebral bodies Dysostosis multiplex Tubular atrophy Focal segmental glomerulosclerosis Hirsutism Glomerulosclerosis Coarse hair Bone marrow hypocellularity Thickened skin Long eyelashes Abnormal lung morphology Brain atrophy Macroglossia Hepatic steatosis Wide nose Abnormality of brain morphology Overbite Delayed CNS myelination Constipation Gliosis Abnormal cerebellum morphology Distal amyotrophy Joint hypermobility Lower limb muscle weakness Camptodactyly Anxiety Hydronephrosis Difficulty walking Midface retrusion Overgrowth Anteverted nares Frontal bossing Low-set ears Underfolded superior helices Stahl ear Abnormal conjugate eye movement Prominent antihelix Increased thyroid-stimulating hormone level Rotary nystagmus Hypoplasia of the musculature Specific learning disability Small nail Mood swings Scleroderma Upper limb spasticity Speech apraxia Spastic dysarthria Abnormality of the thumb Dysuria Upper limb muscle weakness Premature loss of teeth Ankle contracture Cerebellar vermis atrophy Ankle clonus Lower limb spasticity Spastic diplegia Hammertoe Impaired vibratory sensation Emotional lability Slurred speech Spastic paraparesis Hoarse voice Spastic gait Hallucinations Progressive muscle weakness Cerebral visual impairment Sensorineural hearing impairment Hypsarrhythmia Narrow chest Postnatal microcephaly Intellectual disability, profound Neuronal loss in central nervous system Epileptic encephalopathy Unsteady gait Joint hyperflexibility Abnormality of eye movement Ophthalmoplegia Aplasia/Hypoplasia of the corpus callosum Developmental regression Gastroesophageal reflux Cerebral cortical atrophy Encephalopathy Ventriculomegaly Pain Late-onset distal muscle weakness Percussion myotonia Stereotypy Mutism Diaphragmatic paralysis Abnormality of the nose Hyperactivity Long philtrum Short nose Loss of ability to walk in first decade Photosensitive tonic-clonic seizures Conspicuously happy disposition Inappropriate laughter Happy demeanor Dyslexia Hyperkinesis Atrophy/Degeneration affecting the brainstem Slender finger Long nose Dysphasia Decreased muscle mass Aplasia/Hypoplasia of the cerebellum Abnormality of the thorax Cachexia Fetal distress Neck flexor weakness Abnormal cardiac septum morphology Proximal muscle weakness Pulmonary hypoplasia Limb muscle weakness Dilated cardiomyopathy Cough Paralysis Apnea Facial palsy Rigidity Decreased fetal movement Retrognathia Polyhydramnios Respiratory failure Areflexia Congestive heart failure Myopathy Edema Respiratory insufficiency Waddling gait Frequent falls Slender build Spinal rigidity Breech presentation Type 1 muscle fiber predominance Nemaline bodies Fetal akinesia sequence Facial diplegia EMG: neuropathic changes Hypoventilation Thin ribs Bulbar palsy Foot dorsiflexor weakness Mildly elevated creatine phosphokinase Mask-like facies Myotonia Akinesia Congenital contracture EMG: myopathic abnormalities Respiratory insufficiency due to muscle weakness Knee flexion contracture High forehead Attention deficit hyperactivity disorder Nail dysplasia Round face Polydipsia Oligodontia Abnormal vertebral morphology Fine hair Renal hypoplasia Blue sclerae Hypotelorism Downturned corners of mouth Hyperglycemia Delayed puberty Small for gestational age Sparse hair Narrow mouth Diabetes mellitus Delayed skeletal maturation Tremor Intrauterine growth retardation Hypoplasia of the brainstem Polyuria Severe platyspondyly Blindness Bifid uvula Iris coloboma Bulbous nose Arachnodactyly Coloboma Cerebral atrophy Diarrhea Vomiting Visual impairment Brisk reflexes Increased vertebral height Kinetic tremor Recurrent hypoglycemia Prominent superficial veins Maternal diabetes Down-sloping shoulders Ketoacidosis High pitched voice Hearing impairment Cervical instability Broad forehead Ventricular extrasystoles Platyspondyly Craniosynostosis Immunodeficiency Aplasia of the 1st metacarpal Hyperacusis Obsessive-compulsive trait Mild global developmental delay Abnormality of finger Absent radius Single transverse palmar crease 2-3 toe syndactyly Obsessive-compulsive behavior Low anterior hairline Short phalanx of finger Dental crowding Syncope Hypodontia Facial asymmetry Anal atresia Broad nasal tip Narrow greater sacrosciatic notches Opisthotonus Hypoplasia of the capital femoral epiphysis Delayed ossification of carpal bones Hepatic cysts Severe combined immunodeficiency Dislocated radial head Metaphyseal dysplasia Disproportionate short stature Neurodevelopmental delay Combined immunodeficiency Decreased antibody level in blood Erythroderma Epiphyseal dysplasia Eosinophilia Coxa valga Lymphopenia Progressive microcephaly Inflammatory abnormality of the skin Limb undergrowth Hypoplastic acetabulae


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