Hyperreflexia, and High forehead

Diseases related with Hyperreflexia and High forehead

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

Top matches:

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Cataract


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 10B; PBD10B

Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

GIANT AXONAL NEUROPATHY Is also known as gan

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GIANT AXONAL NEUROPATHY

Neonatal adrenoleukodystrophy (NALD) is the variant of intermediate severity of the PBD-Zellweger syndrome spectrum (PBD-ZSS; see this term), charcterized by hypotonia, leukodystrophy, and vision and sensorineural hearing deficiencies. Phenotypic overlap is seen between NALD and infantile Refsum disease (IRD) (see this term).

NEONATAL ADRENOLEUKODYSTROPHY Is also known as nald

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about NEONATAL ADRENOLEUKODYSTROPHY

Other less relevant matches:

NMIHBA is a severe, autosomal recessive, neurodevelopmental, and neurodegenerative disorder characterized by global developmental delay apparent from infancy and profound intellectual disability. Affected individuals have microcephaly with accompanying dysmorphic features, truncal hypotonia, peripheral spasticity, and lack of independent ambulation or speech acquisition. Brain imaging shows variable abnormalities, including cortical atrophy, thin corpus callosum, cerebellar hypoplasia, and delayed myelination (summary by Zollo et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, HYPOTONIA, AND VARIABLE BRAIN ANOMALIES; NMIHBA

X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (XDIBS), or Pettigrew syndrome is a central nervous system malformation characterized by severe intellectual deficit, early hypotonia with progression to spasticity and contractures, choreoathetosis, seizures, dysmorphic face (long face with prominent forehead), and brain imaging abnormalities such as Dandy-Walker malformation (see this term), and iron deposition.

X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME Is also known as mental retardation, x-linked, with dandy-walker malformation, basal ganglia disease, and seizures|mrxs21|mrx59|mental retardation, x-linked 59|mrxs5|mental retardation, x-linked, syndromic, fried type|mrxsf|mental retardation, x-linked, syndromic 21|menta

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-DANDY-WALKER MALFORMATION-BASAL GANGLIA DISEASE-SEIZURES SYNDROME

X-linked lissencephaly with abnormal genitalia (XLAG) is a rare, genetic, central nervous system malformation disorder characterized, in males, by lissencephaly (with posterior predominance and moderately thickened cortex), complete absence of corpus callosum, neonatal-onset (mainly perinatal) intractable seizures, postnatal microcephaly, severe hypotonia, poor responsiveness and hypogonadism (micropenis, hypospadias, cryptorchidism, small scrotal sac). Defective temperature regulation and chronic diarrhea may be additionally observed.

X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA Is also known as xlisg|xlag (x-linked lissencephaly with abnormal genitalia) syndrome|lissencephaly, x-linked, with ambiguous genitalia|x-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome|xlag|x-linked lissencephaly with ambiguous genitalia

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED LISSENCEPHALY WITH ABNORMAL GENITALIA

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

Woodhouse-Sakati syndrome is a multisystemic disorder characterized by hypogonadism, alopecia, diabetes mellitus, intellectual deficit and extrapyramidal signs with choreoathetoid movements and dystonia.

WOODHOUSE-SAKATI SYNDROME Is also known as hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and extrapyramidal syndrome|extrapyramidal disorder, progressive, with primary hypogonadism, mental retardation, and alopecia|diabetes-hypogonadism-deafness-intellectual disability s

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOODHOUSE-SAKATI SYNDROME

Medium match SOTOS SYNDROME

Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability.

SOTOS SYNDROME Is also known as cerebral gigantism

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about SOTOS SYNDROME

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Top 5 symptoms//phenotypes associated to Hyperreflexia and High forehead

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Low-set ears Muscular hypotonia Spasticity Prominent forehead Ventriculomegaly Motor delay Macrocephaly Microcephaly Cataract Protruding ear Cryptorchidism Macrotia Frontal bossing Micrognathia Sensorineural hearing impairment Flexion contracture Strabismus Nystagmus Downslanted palpebral fissures Feeding difficulties in infancy

Rare Symptoms - Less than 30% cases

Respiratory failure Severe global developmental delay Cerebellar hypoplasia Behavioral abnormality Wide anterior fontanel Abnormality of movement Dolichocephaly Abnormality of metabolism/homeostasis EEG abnormality Delayed speech and language development Anteverted nares Hypertelorism Optic atrophy Wide nasal bridge Epicanthus Abnormal cardiac septum morphology Tapered finger Cerebral cortical atrophy Sloping forehead Feeding difficulties Thick vermilion border Micropenis Agenesis of corpus callosum Patent ductus arteriosus Long philtrum Diarrhea Thin upper lip vermilion Choreoathetosis Hearing impairment Heart block Hyperactivity Aggressive behavior Coarse facial features Mandibular prognathia Gait ataxia Prominent nasal bridge Decreased testicular size Narrow palate Hypoglycemia Prominent nose Elevated long chain fatty acids Polyneuropathy Muscular hypotonia of the trunk Babinski sign Spastic paraparesis Paraparesis Cerebellar atrophy Spastic paraplegia Talipes equinovarus Abnormality of the skeletal system Skeletal muscle atrophy Pes planus Sensory neuropathy Difficulty walking Dysarthria Peripheral neuropathy Genu valgum Short stature Abnormality of the foot Posteriorly rotated ears Abnormality of the hand Hypergonadotropic hypogonadism Decreased plasma free carnitine Hepatic calcification Hallucinations Tapered toe Coma Hypogonadotrophic hypogonadism Autoimmune thrombocytopenia Increased total bilirubin Macrovesicular hepatic steatosis Anodontia Nonketotic hypoglycemia Increased muscle lipid content Insulin-resistant diabetes mellitus Hypoplasia of the uterus Purpura Aplasia/Hypoplasia of the eyebrow Basal ganglia cysts Flat occiput Sparse eyebrow Sparse scalp hair Hyperlipidemia Premature ovarian insufficiency Fine hair Primary amenorrhea Hyperacusis Alopecia Intellectual disability, mild Dystonia Gait disturbance Cognitive impairment Aplasia of the 1st metacarpal Elevated serum long-chain fatty acids Hypogonadism Obsessive-compulsive trait Mild global developmental delay Abnormality of finger Ventricular extrasystoles Absent radius 2-3 toe syndactyly Obsessive-compulsive behavior Decreased plasma total carnitine Diabetes mellitus Intracerebral periventricular calcifications Amenorrhea Antenatal intracerebral hemorrhage Myocardial infarction Psychosis Abnormality of extrapyramidal motor function Bilateral sensorineural hearing impairment Dehydration Dental malocclusion Hypothyroidism Triangular face Delayed puberty Hypotrichosis Arthrogryposis multiplex congenita Sparse hair Camptodactyly Mental deterioration Dicarboxylic aciduria Decreased serum estradiol Decreased serum testosterone level Congestive heart failure Knee flexion contracture Hyperammonemia Ventricular arrhythmia Polycystic kidney dysplasia Arrhythmia Renal insufficiency Overfolded helix Elbow flexion contracture Hypoplastic toenails Cerebral hemorrhage Cardiomyopathy Respiratory distress Respiratory insufficiency Fatigue Hepatomegaly Multicystic kidney dysplasia Elevated serum creatine phosphokinase Sacrococcygeal teratoma Apnea Hepatic steatosis Bulbous nose Polymicrogyria Hepatic failure Lethargy Dilated cardiomyopathy Hydronephrosis Renal dysplasia Neonatal hypotonia Aciduria Wide intermamillary distance Oligohydramnios Elevated hepatic transaminase Cardiomegaly Acidosis Hyperkalemia Neoplasm of the nervous system Metabolic acidosis Progressive alopecia Conductive hearing impairment Long toe Hypospadias Obesity Neoplasm Abnormality of nervous system morphology Hypoplasia of the fallopian tube Ureteral duplication Progressive extrapyramidal movement disorder Decreased serum insulin-like growth factor 1 Streak ovary Increased thyroid-stimulating hormone level Biventricular hypertrophy Abnormal spermatogenesis Abnormal T-wave Craniosynostosis Vesicoureteral reflux Renal duplication Genu varum Advanced eruption of teeth Multiple renal cysts Abnormality of the ureter Short phalanx of finger Enlarged kidney Abnormality of immune system physiology Precocious puberty Aplasia/Hypoplasia of the corpus callosum Depressed nasal ridge Accelerated skeletal maturation Hypothermia Abnormality of the fingernails Hypoketotic hypoglycemia Cystic renal dysplasia Congenital hip dislocation Tall stature Low anterior hairline Gliosis Dental crowding Abnormality of the pituitary gland Visual impairment Ptosis Abnormal facial shape Diffuse axonal swelling Abnormality of the Achilles tendon Pili canaliculi Curly eyelashes Developmental regression Abnormal hand morphology Red hair Hyporeflexia of lower limbs Morphological abnormality of the pyramidal tract Areflexia of lower limbs Woolly hair Low-set, posteriorly rotated ears Abnormality of the liver Motor axonal neuropathy Adrenal insufficiency Cerebral atrophy Blindness Hypoplasia of the corpus callosum Depressed nasal bridge Polar cataract Primary adrenal insufficiency Abnormality of neuronal migration Retinal dystrophy Abnormal palate morphology Bilateral single transverse palmar creases Decreased liver function Abnormality of retinal pigmentation Esotropia High, narrow palate Bulbar signs Facial diplegia Proptosis Pes cavus Paraplegia Limb muscle weakness Abnormal pyramidal sign Distal muscle weakness Facial palsy Proximal muscle weakness Areflexia Peripheral axonal neuropathy Ataxia Neurogenic bladder Inverted nipples Prolonged neonatal jaundice Nephrocalcinosis Jaundice Unsteady gait Joint hypermobility Axonal loss CNS hypomyelination Curly hair Decreased number of peripheral myelinated nerve fibers Amyotrophic lateral sclerosis Brisk reflexes Sensory axonal neuropathy Steppage gait Sensorimotor neuropathy Falls Fasciculations Abnormality of the hair Sensory impairment Abnormal cerebellum morphology Distal sensory impairment Distal amyotrophy Absent speech Abnormality of the cerebral white matter Syncope Infantile spasms Abnormality of temperature regulation Duane anomaly Long upper lip Hydranencephaly Profound global developmental delay Exocrine pancreatic insufficiency Lissencephaly Type I lissencephaly Hypohidrosis Chronic diarrhea Postnatal microcephaly Aganglionic megacolon Pachygyria Ambiguous genitalia Temperature instability Brachydactyly Specific learning disability Broad forehead Hypodontia Short distal phalanx of finger Thick eyebrow Facial asymmetry Poor speech Synophrys Attention deficit hyperactivity disorder Dysphagia Upslanted palpebral fissure Clinodactyly Pectus excavatum Recurrent infections Short nose Kyphosis Hypoplasia of penis Pulmonary hypoplasia Narrow chest Clonus Central hypoventilation Central hypotonia Hypoventilation Multiple joint contractures Plagiocephaly Spastic tetraparesis Progressive microcephaly Intellectual disability, severe Cerebral visual impairment Tetraparesis Hypsarrhythmia Narrow forehead Delayed myelination Talipes Hydrocephalus Inguinal hernia Malabsorption Pointed chin Ventricular septal defect Abnormality of the basal ganglia High-frequency hearing impairment Basal ganglia calcification Aplasia/Hypoplasia of the cerebellum Self-injurious behavior Narrow face Dementia Cerebral calcification Dandy-Walker malformation Neurodegeneration Long face Wide mouth Deeply set eye Long-chain dicarboxylic aciduria


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