Hyperreflexia, and Highly arched eyebrow

Diseases related with Hyperreflexia and Highly arched eyebrow

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

Top matches:

Early infantile epileptic encephalopathy-65 is characterized by onset of intractable seizures of various types within 6 months of birth, severe to profound psychomotor developmental delay, and mild facial dysmorphism (summary by Nakashima et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65

MRT61 is an autosomal recessive neurodevelopmental disorder characterized by delayed psychomotor development, moderate to severe intellectual disability, and variable dysmorphic facial features. More severely affected patients may develop refractory seizures and have brain abnormalities, including hypoplasia of the corpus callosum (summary by Alwadei et al., 2016).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61 Is also known as alwadei syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 61; MRT61

Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011). Some patients may have seizures (Hardies et al., 2015).

SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52 Is also known as cerebral palsy, spastic quadriplegic, 6, formerly|cpsq6, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 52, AUTOSOMAL RECESSIVE; SPG52

Other less relevant matches:

Autosomal recessive mental retardation-42 is a neurodevelopmental disorder characterized by severely delayed psychomotor development. Additional features are variable and include nonspecific dysmorphic facial features, hypotonia, structural brain abnormalities, and cortical visual impairment (summary by Bosch et al., 2015). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis.For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 Is also known as glycosylphosphatidylinositol biosynthesis defect 9|gpibd9

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42

Pontocerebellar hypoplasia type 10 is a rare, genetic, pontocerebellar hypoplasia subtype characterized by severe psychomotor developmental delay, progressive microcephaly, progressive spasticity, seizures, and brain abnormalities consisting of mild atrophy of the cerebellum, pons and corpus callosum and cortical atrophy with delayed myelination. Patients may present dysmorphic facial features (high arched eyebrows, prominent eyes, long palpebral fissures and eyelashes, broad nasal root, and hypoplastic alae nasi) and an axonal sensorimotor neuropathy.

PONTOCEREBELLAR HYPOPLASIA TYPE 10 Is also known as pch10|clp1-related pontocerebellar hypoplasia

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA TYPE 10

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

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

17q23.1q23.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, microcephaly, short stature, heart defects and limb abnormalities.

17Q23.1Q23.2 MICRODELETION SYNDROME Is also known as 17q23.1-q23.2 microdeletion syndrome|del(17)(q23.1q23.2)|monosomy 17q23.1q23.2|monosomy 17q23.1-q23.2

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17Q23.1Q23.2 MICRODELETION SYNDROME

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

Medium match FUCOSIDOSIS

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.

FUCOSIDOSIS Is also known as alpha-l-fucosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about FUCOSIDOSIS

Top 5 symptoms//phenotypes associated to Hyperreflexia and Highly arched eyebrow

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Highly arched eyebrow. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Hypertonia

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development

Common Symptoms - More than 50% cases

Strabismus

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Hypoplasia of the corpus callosum Wide mouth Absent speech Macrocephaly Growth delay Flexion contracture Delayed myelination Downslanted palpebral fissures Bulbous nose Muscular hypotonia Brain atrophy Ptosis Failure to thrive Long eyelashes Intellectual disability, severe Wide nasal bridge Hearing impairment Brachycephaly Muscular hypotonia of the trunk Nystagmus Talipes equinovarus Progressive microcephaly Visual impairment Low-set ears High palate Cerebral atrophy Cerebellar hypoplasia Prominent forehead Frontal bossing

Rare Symptoms - Less than 30% cases

Abnormality of the dentition Poor speech Agenesis of corpus callosum Hepatomegaly Tremor Cerebellar vermis hypoplasia Retinal dystrophy Hypertension Feeding difficulties Gait disturbance Cryptorchidism Thin upper lip vermilion Esotropia Atrial septal defect Kyphosis Small for gestational age Anteverted nares Clinodactyly of the 5th finger Apraxia Oculomotor apraxia Widely spaced teeth Splenomegaly Chronic otitis media Narrow mouth Abnormality of the cerebral white matter Cerebral palsy Apnea Thick eyebrow Long face Hypsarrhythmia Talipes Synophrys Aggressive behavior Decreased muscle mass Motor delay Prominent nose Abnormal pyramidal sign Hydrocephalus Coarse facial features Neonatal hypotonia Tapered finger Cerebellar atrophy Hyperactivity Short philtrum Spastic paraplegia Paraplegia Thick vermilion border Ventriculomegaly Babinski sign Encephalopathy Spastic tetraplegia Portal hypertension Chorioretinal coloboma Cholestatic liver disease Abnormal pattern of respiration Chronic kidney disease Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Nephronophthisis Congenital hepatic fibrosis Molar tooth sign on MRI Abnormality of the hypothalamus-pituitary axis Occipital encephalocele Tortuosity of conjunctival vessels Biparietal narrowing Abnormality of abdomen morphology Optic nerve coloboma Elevated sweat chloride Neoplasm of the liver Esophageal varix Intestinal malrotation Glycopeptiduria Abnormality of eye movement Renal insufficiency Dilatation Inguinal hernia Polydactyly Elevated hepatic transaminase Abnormality of the nervous system Intellectual disability, moderate Abnormality of the kidney Abnormality of the eye Feeding difficulties in infancy Abnormality of the liver Coloboma Prominent nasal bridge Oral cleft Aplasia/Hypoplasia of the corpus callosum Stage 5 chronic kidney disease Cirrhosis Iris coloboma Nephropathy Renal cyst Round face Multiple small medullary renal cysts Gastrointestinal hemorrhage Postaxial hand polydactyly Cholestasis Encephalocele Hepatic fibrosis Multicystic kidney dysplasia Aplasia/Hypoplasia of the cerebellar vermis Eye of the tiger anomaly of globus pallidus Chronic hepatic failure Angiokeratoma corporis diffusum Spastic gait Abnormality of the nail Abnormal globus pallidus morphology Coxa valga Chalazion Abnormality of pelvic girdle bone morphology Anhidrosis Neurodevelopmental delay Lipoatrophy Hypoplasia of the odontoid process Acrocyanosis Dysostosis multiplex Telangiectasia Visceromegaly Abnormal cornea morphology Mucopolysacchariduria Vacuolated lymphocytes Abnormality of the abdominal wall Cerebral hypomyelination Oligosacchariduria Abnormality of the gallbladder Progressive psychomotor deterioration Vascular skin abnormality Generalized hyperkeratosis Broad long bones Gingival overgrowth Decreased body weight Intrahepatic biliary atresia Hyperkeratosis Abnormality of central motor function Muscle weakness Skeletal muscle atrophy Dystonia Recurrent infections Hernia Angiokeratoma Anterior beaking of lumbar vertebrae Delayed skeletal maturation Recurrent respiratory infections Hyperhidrosis Osteoporosis Hypothyroidism Abnormal form of the vertebral bodies Kyphoscoliosis Skeletal dysplasia Increased hepatic glycogen content Conductive hearing impairment Abnormality of the acetabulum Corneal opacity Abnormality of mucopolysaccharide metabolism Dysmetria Dry skin Macroglossia Abnormality of the cardiovascular system Cardiomegaly Ataxia Syringomyelia Coxa magna Delayed fine motor development Proptosis Irritability Underdeveloped nasal alae Sensorimotor neuropathy Delayed gross motor development Poor head control Cortical gyral simplification Progressive spasticity Long palpebral fissure Poor eye contact Abnormality of brainstem morphology Abnormality of the cerebral cortex Short nose Visual fixation instability Abnormality of the skeletal system Autism Autistic behavior Arthrogryposis multiplex congenita Short palpebral fissure Microretrognathia Wide nasal base Prominent nasal tip Decreased palmar creases Brachydactyly Cerebral cortical atrophy Optic atrophy Clinodactyly Tetraplegia Epileptic encephalopathy Tented upper lip vermilion Pes cavus Posteriorly rotated ears Mandibular prognathia EEG abnormality Joint laxity Dolichocephaly Unsteady gait Postnatal microcephaly Delayed ability to walk Focal-onset seizure Peripheral neuropathy Febrile seizures Spastic diplegia Facial hypotonia Loss of ability to walk Simple febrile seizures Short neck Upslanted palpebral fissure Macrotia Deeply set eye Cerebral visual impairment Abnormal electroretinogram Abnormal hand morphology Hypospadias Constipation Retinopathy of prematurity Sandal gap Gastroesophageal reflux Pes planus Postnatal growth retardation Protruding ear Abnormal cardiac septum morphology Retinopathy Arachnodactyly Limitation of joint mobility Pulmonary arterial hypertension Abnormality of epiphysis morphology Bilateral single transverse palmar creases Sacral dimple Patent ductus arteriosus Bicuspid aortic valve Congenital contracture Long fingers Slender finger Shawl scrotum Blepharitis Mild global developmental delay Bifid nose Patellar hypoplasia Moderate global developmental delay Long toe Shallow acetabular fossae Dyspnea Malar flattening Joint hypermobility Supernumerary nipple Downturned corners of mouth Blue sclerae Hypertrichosis Exotropia Short thumb Abnormal vertebral morphology Clonus Finger clinodactyly Bilateral ptosis Patent foramen ovale Hypoplastic toenails Narrow nasal bridge Intellectual disability, mild Spinal canal stenosis Central hypotonia Delayed CNS myelination Chordee Tethered cord Lower limb hypertonia Narrow nasal tip Cerebral white matter hypoplasia Depressed nasal bridge Epicanthus Intrauterine growth retardation Behavioral abnormality Anterior beaking of thoracic vertebrae


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