Hyperreflexia, and Retrognathia

Diseases related with Hyperreflexia and Retrognathia

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

Top matches:

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an extremely rare disorder of GABA metabolism characterized by a severe neonatal-infantile epileptic encephalopathy (manifesting with symptoms such as seizures, hypotonia, hyperreflexia and developmental delay) and growth acceleration.

GAMMA-AMINOBUTYRIC ACID TRANSAMINASE DEFICIENCY Is also known as gaba transaminase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hyperreflexia
  • Downslanted palpebral fissures


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAMMA-AMINOBUTYRIC ACID TRANSAMINASE DEFICIENCY

Medium match PEHO-LIKE SYNDROME

PEHO-like syndrome is a rare, genetic neurological disease characterized by progressive encephalopathy, early-onset seizures with a hypsarrhythmic pattern, facial and limb edema, severe hypotonia, early arrest of psychomotor development and craniofacial dysmorphism (evolving microcephaly, narrow forehead, short nose, prominent auricles, open mouth, micrognathia), in the absence of neuro-ophthalmic or neuroradiologic findings. Poor visual responsiveness, growth failure and tapering fingers are also associated.

PEHO-LIKE SYNDROME Is also known as progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy-like syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO-LIKE SYNDROME

Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex hereditary spastic paraplegia characterized by an infancy to childhood onset of slowly progressive lower limb spasticity, delayed motor milestones, gait disturbances, hyperreflexia and various muscle abnormalities, including weakness, hypotonia, intention tremor and amyotrophy. Ocular abnormalities (e.g. strabismus, ptosis) and other neurological abnormalities, such as dysarthria, seizures and extensor plantar responses, may also be associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77 Is also known as spg77

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 77

Other less relevant matches:

HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS Is also known as aqueductal stenosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about HYDROCEPHALUS DUE TO CONGENITAL STENOSIS OF AQUEDUCT OF SYLVIUS

Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23 Is also known as spastic paraparesis-vitiligo-premature graying-characteristic facies syndrome|lison syndrome|spg23|spastic paraparesis, vitiligo, premature graying, characteristic facies|spastic paraplegia with pigmentary abnormalities

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Ataxia
  • Micrognathia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 23

Autism spectrum disorder due to AUTS2 deficiency is a rare genetic syndromic intellectual disability characterized by global developmental delay and borderline to severe intellectual disability, autism spectrum disorder with obsessive behavior, stereotypies, hyperactivity but frequently friendly and affable personality, feeding difficulties, short stature, muscular hypotonia, microcephaly, characteristic dysmorphic features (hypertelorism, high arched eyebrows, ptosis, deep and/or broad nasal bridge, broad/prominent nasal tip, short and/or upturned philtrum, narrow mouth, and micrognathia), and skeletal anomalies (kyphosis and/or scoliosis, arthrogryposis, slender habitus and extremities). Other clinical features may include hernias, congenital heart defects, cryptorchidism and seizures.

AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY Is also known as asd due to auts2 deficiency|auts2 syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTISM SPECTRUM DISORDER DUE TO AUTS2 DEFICIENCY

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

Medium match PEHO SYNDROME

PEHO (Progressive encephalopathy with Edema, Hypsarrhythmia and Optic atrophy) syndrome is a rare neurodegenerative disorder belonging to the group of infantile progressive encephalopathies.

PEHO SYNDROME Is also known as progressive encephalopathy-optic atrophy syndrome|progressive encephalopathy with edema, hypsarrhythmia and optic atrophy|progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy|infantile cerebellooptic atrophy

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PEHO SYNDROME

Glycine encephalopathy with normal serum glycine is a severe metabolic disorder characterized by arthrogryposis multiplex congenita, joint hyperlaxity, lack of neonatal respiratory effort, axial hypotonia, hypertonia with pronounced clonus, and delayed psychomotor development. Some patients may have dysmorphic facial features and/or brain imaging abnormalities. Laboratory studies show increased CSF glycine and normal or only mildly increased serum glycine. Most patients die in infancy. The disorder is similar to, but distinct from, glycine encephalopathy (GCE ) due to mutations in genes encoding the glycine cleavage system (summary by Kurolap et al., 2016).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about GLYCINE ENCEPHALOPATHY WITH NORMAL SERUM GLYCINE

Congenital intrauterine infection-like syndrome is characterised by the presence of microcephaly and intracranial calcifications at birth accompanied by neurological delay, seizures and a clinical course similar to that seen in patients after intrauterine infection with Toxoplasma gondii, Rubella, Cytomegalovirus, Herpes simplex (so-called TORCH syndrome), or other agents, despite repeated tests revealing the absence of any known infectious agent.

CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME Is also known as baraitser-reardon syndrome|bilateral band-like calcification with polymicrogyria|blc-pmg|blcpmg|band-like calcification with simplified gyration and polymicrogyria|microcephaly-intracranial calcification-intellectual disability syndrome|pseudo-torch syndr

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL INTRAUTERINE INFECTION-LIKE SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Retrognathia

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Flexion contracture Cerebellar hypoplasia Encephalopathy Abnormal facial shape Arthrogryposis multiplex congenita Failure to thrive Ventriculomegaly Intellectual disability Strabismus Edema Polymicrogyria Intellectual disability, profound Pachygyria Scoliosis Intellectual disability, severe Ptosis Babinski sign Apnea Spastic paraplegia Hypertelorism Anteverted nares Abnormality of the skeletal system Feeding difficulties Low-set ears Hypoplasia of the corpus callosum Muscular hypotonia of the trunk Optic atrophy Abnormality of movement Hypsarrhythmia Absent speech Severe muscular hypotonia Myoclonus

Rare Symptoms - Less than 30% cases

Dysphagia Micropenis Hyporeflexia Cardiomyopathy Hydrocephalus Fetal distress Nystagmus Epicanthus Cerebral palsy Recurrent respiratory infections High palate Infantile muscular hypotonia Microretrognathia Paraplegia EEG abnormality Short stature Micrognathia Cerebral cortical atrophy Hip dislocation Neuronal loss in central nervous system Waddling gait Agenesis of corpus callosum Narrow face Dystonia Respiratory distress Downslanted palpebral fissures Respiratory failure Esotropia Tetraparesis Feeding difficulties in infancy Status epilepticus Open mouth Sloping forehead Brain atrophy Small for gestational age Full cheeks Tapered finger Progressive microcephaly Infantile encephalopathy Spastic tetraparesis Ataxia Narrow forehead Neonatal hypotonia Myopathic facies Kyphoscoliosis Short nose Cerebellar atrophy Hypertrophic cardiomyopathy Gait disturbance Motor delay Tented upper lip vermilion Macrotia Epileptic spasms Palpebral edema Drowsiness Atrophy/Degeneration affecting the brainstem Biparietal narrowing Limitation of joint mobility Abnormality of the eye Abnormality of eye movement Gingival overgrowth Bulbar palsy Abnormal palate morphology Infantile spasms Mildly elevated creatine phosphokinase Cerebral atrophy Visual loss Akinesia EMG: neuropathic changes Facial diplegia Fetal akinesia sequence Congenital contracture Nemaline bodies Progressive encephalopathy Type 1 muscle fiber predominance Breech presentation Slender build Neck flexor weakness Hypoventilation Midface retrusion Diaphragmatic paralysis Thin ribs Myotonia Spinal rigidity Percussion myotonia Late-onset distal muscle weakness EMG: myopathic abnormalities Mask-like facies Blindness Malar flattening External ear malformation Genu recurvatum Edema of the lower limbs Skin rash Anemia Visual impairment Hepatomegaly Fever Splenomegaly Long philtrum Renal insufficiency Microphthalmia Thrombocytopenia Jaundice Hepatosplenomegaly Elevated hepatic transaminase Abnormality of the liver Corneal opacity Growth delay Generalized tonic-clonic seizures Congenital cataract Tetraplegia Gliosis Cerebral calcification Postnatal microcephaly Decreased liver function Cerebral visual impairment Opacification of the corneal stroma Purpura Lissencephaly Petechiae Increased CSF protein Cataract Nonketotic hyperglycinemia Developmental stagnation Dolichocephaly Periventricular leukomalacia Porencephalic cyst Peripheral edema Abnormality of upper lip Edema of the dorsum of hands Edema of the dorsum of feet Peripheral dysmyelination Undetectable visual evoked potentials Depressed nasal bridge Hypertension Talipes equinovarus Joint laxity Broad forehead Abnormality of the foot Hyperglycinemia Hip dysplasia Long eyelashes Clonus Elbow flexion contracture Deep philtrum Trigonocephaly Sparse eyebrow Oral-pharyngeal dysphagia Overlapping toe Weak cry Hip contracture Knee flexion contracture Hand clenching Exaggerated startle response Respiratory insufficiency due to muscle weakness Short philtrum Foot dorsiflexor weakness Cognitive impairment Holoprosencephaly Increased intracranial pressure Adducted thumb Bilateral cryptorchidism Hemiplegia/hemiparesis Absent septum pellucidum Aqueductal stenosis Visceromegaly Oxycephaly Esodeviation Flexion contracture of thumb Peripheral neuropathy Joint stiffness Abnormality of the nervous system Lower limb muscle weakness Hypopigmentation of the skin Sepsis Nevus Sensory impairment Febrile seizures Spastic gait Cafe-au-lait spot Horseshoe kidney Paraparesis Small hand Coarse facial features Abnormality of the genitourinary system Skeletal muscle atrophy Severe global developmental delay Lethargy Choreoathetosis Tall stature Leukodystrophy Abnormal cortical gyration Posterior fossa cyst Multifocal epileptiform discharges High-pitched cry Central hypotonia Dysarthria Tremor Short neck Acidosis Dysmetria Metabolic acidosis Urinary incontinence Bradykinesia Intention tremor Lower limb spasticity Poor head control Abnormality of mitochondrial metabolism Vertebral fusion Lower limb amyotrophy Cryptorchidism Spastic paraparesis Bowel incontinence Joint contracture of the hand Proximal muscle weakness Prominent nasal tip Decreased palmar creases Muscle weakness Respiratory insufficiency Myopathy Congestive heart failure Pectus excavatum Areflexia Pes cavus Polyhydramnios Rigidity Facial palsy Short palpebral fissure Hyperlordosis Respiratory tract infection Paralysis Cough Dilated cardiomyopathy Limb muscle weakness Genu valgum Falls Pulmonary hypoplasia Generalized muscle weakness Decreased fetal movement Frequent falls Wide nasal base Highly arched eyebrow Premature graying of hair Hyperpigmentation in sun-exposed areas Axonal degeneration Progressive spastic paraplegia Vitiligo Progeroid facial appearance White hair Progressive spastic paraparesis Multiple lentigines Flexion contracture of toe Bowel urgency Silver-gray hair Hyperpigmented nevi Premature graying of body hair Thick vermilion border Delayed speech and language development Macrocephaly Atrial septal defect Kyphosis Brachycephaly Hyperactivity Autism Narrow mouth Autistic behavior Wide mouth Poor speech Thick eyebrow Congenital microcephaly


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