Hyperreflexia, and Spina bifida

Diseases related with Hyperreflexia and Spina bifida

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

Top matches:

Low match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Low match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Other less relevant matches:

Childhood- and adolescent-onset forms of familial ALS (see ALS1, {105400}) carry the designation 'juvenile ALS.' Several forms of autosomal recessive juvenile ALS have been identified; see ALS2 (OMIM ) and ALS5 (OMIM ).

AMYOTROPHIC LATERAL SCLEROSIS TYPE 4 Is also known as als4|neuronopathy, distal hereditary motor, with pyramidal features|distal hereditary motor neuropathy with upper motor neuron signs|dhmn with upper motor neuron signs

Related symptoms:

  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Gait disturbance
  • Babinski sign


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS TYPE 4

Rubinstein-Taybi syndrome is a multiple congenital anomaly syndrome characterized by mental retardation, postnatal growth deficiency, microcephaly, broad thumbs and halluces, and dysmorphic facial features. The facial appearance is striking, with highly arched eyebrows, long eyelashes, downslanting palpebral fissures, broad nasal bridge, beaked nose with the nasal septum, highly arched palate, mild micrognathia, and characteristic grimacing or abnormal smile. Affected individuals also have an increased risk of tumor formation (Rubinstein and Taybi, 1963; review by Hennekam, 2006).Floating-Harbor syndrome (OMIM ), which shows phenotypic overlap with Rubinstein-Taybi syndrome, is caused by mutation in the SRCAP gene (OMIM ), a coactivator for CREBBP. Genetic Heterogeneity of Rubinstein-Taybi SyndromeRubinstein-Taybi syndrome-1 (RSTS1) constitutes about 50 to 70% of patients with the disorder. Rubinstein-Taybi syndrome-2 (RSTS2 ) comprises about 3% of patients and is primarily due to de novo heterozygous mutation in the EP300 gene (OMIM ) on chromosome 22q13 (Bartsch et al., 2010).See also chromosome 16p13.3 deletion syndrome (OMIM ), a severe form of Rubinstein-Taybi syndrome resulting from a contiguous gene deletion involving the CREBBP gene as well as other neighboring genes.

RUBINSTEIN-TAYBI SYNDROME 1; RSTS1 Is also known as broad thumbs and great toes, characteristic facies, and mental retardation|rubinstein syndrome|rsts|broad thumb-hallux syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about RUBINSTEIN-TAYBI SYNDROME 1; RSTS1

This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39 Is also known as spastic paraplegia due to neuropathy target esterase mutation|spg39|nte-related motor neuron disorder|spastic paraplegia due to nte mutation|ntemnd

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39

Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 42 Is also known as spg42

Related symptoms:

  • Seizures
  • Muscle weakness
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Babinski sign


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 42

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 12; SCA12

Autosomal dominant spastic paraplegia type 41 is a pure form of hereditary spastic paraplegia characterized by onset in adolescence or early adulthood of slowly progressive spastic paraplegia, proximal muscle weakness of the lower extremities and small hand muscles, hyperreflexia, spastic gait and mild urinary compromise.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 41 Is also known as spg41

Related symptoms:

  • Seizures
  • Muscle weakness
  • Hyperreflexia
  • Proximal muscle weakness
  • Spastic paraplegia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 41

Autosomal dominant spastic paraplegia type 37 is a pure form of hereditary spastic paraplegia characterized by a childhood- to adulthood-onset of slowly progressive spastic gait, extensor plantar responses, brisk tendon reflexes in arms and legs, decreased vibration sense at ankles and urinary dysfunction. Ankle clonus is also reported in some patients.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 37 Is also known as spg37

Related symptoms:

  • Seizures
  • Hyperreflexia
  • Fatigue
  • Babinski sign
  • Difficulty walking


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 37

Top 5 symptoms//phenotypes associated to Hyperreflexia and Spina bifida

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Spastic paraplegia Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Lower limb muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Lower limb spasticity Spastic gait Gait disturbance Progressive spastic paraplegia Strabismus Ataxia Short stature Atrial septal defect Neoplasm Spinal cord lesion Abnormality of the cerebrospinal fluid Degeneration of the lateral corticospinal tracts Paraplegia Hearing impairment Microcephaly Growth delay Abnormal facial shape Micrognathia Clinodactyly of the 5th finger EMG abnormality Cryptorchidism High palate Postnatal growth retardation Hypospadias Abnormality of the skeletal system Abnormal lower-limb motor evoked potentials Abnormal heart morphology Abnormality of the eye Ptosis Anxiety Gastroesophageal reflux Gait ataxia Headache Clonus Cognitive impairment Dysarthria Global developmental delay Peripheral neuropathy Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases

Difficulty walking Pes cavus Abnormality of the kidney Leukemia Constipation Deeply set eye Hyperactivity Aganglionic megacolon Thin upper lip vermilion Umbilical hernia Cafe-au-lait spot Cerebellar atrophy Hypothyroidism Upslanted palpebral fissure Fatigue Pes planus Epicanthus Coarctation of aorta Cataract Failure to thrive Scoliosis Short upper lip Tethered cord Short attention span Impulsivity Short thumb Long eyelashes Delayed skeletal maturation Low posterior hairline Otitis media Joint laxity Dental malocclusion Prominent nose Hypoplasia of the maxilla Small hand Hirsutism Small for gestational age Frontal bossing Feeding difficulties in infancy Respiratory distress Intellectual disability, moderate Patent ductus arteriosus Proptosis Short palpebral fissure Broad thumb Spasticity Unsteady gait Hydrocephalus Tremor Fever Muscular hypotonia Hypopigmented skin patches Nystagmus Generalized hypotonia Abnormality of vision Irregular hyperpigmentation Delusions EEG abnormality Malabsorption Progressive pes cavus Depressivity Vertigo Intrauterine growth retardation Lower limb amyotrophy Impaired vibration sensation in the lower limbs Hypertension Delayed speech and language development Abnormality of cardiovascular system morphology Urinary urgency Lower limb hyperreflexia Wide nasal bridge Low-set ears Abnormality of the dentition Muscle weakness Downslanted palpebral fissures Flexion contracture Pallor of dorsal columns of the spinal cord Diffuse axonal swelling Ventricular septal defect Peripheral axonal degeneration Abnormal upper motor neuron morphology Thick eyebrow Degeneration of anterior horn cells Abnormal lower motor neuron morphology Axonal loss Axonal degeneration Dysphagia Immunodeficiency Behavioral abnormality Narrow mouth Pulmonic stenosis Coloboma Respiratory tract infection Abnormality of the pinna Muscle cramps Retrognathia Polyhydramnios Autism Hand muscle weakness Syndactyly Urinary incontinence Polydactyly Brisk reflexes Agenesis of corpus callosum Arrhythmia Pectus excavatum Impaired vibratory sensation Joint hypermobility Glaucoma Motor axonal neuropathy Amyotrophic lateral sclerosis Duodenal stenosis Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Primary hypothyroidism Chromosomal breakage induced by crosslinking agents Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Decreased fertility in males Hypoplastic anemia Ankle clonus Pyridoxine-responsive sideroblastic anemia Sensory impairment Upper limb spasticity Limb muscle weakness Abnormal pyramidal sign Distal muscle weakness Highly arched eyebrow Abnormality of the preputium Aplasia/Hypoplasia of fingers Absent testis Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Iris coloboma Dental crowding Proximal muscle weakness Frontal upsweep of hair Dyscalculia Chorioretinal dystrophy Keloids Dysmetria Parkinsonism Duane anomaly Progressive cerebellar ataxia Prominent fingertip pads Bimanual synkinesia Duplication of phalanx of hallux Parietal foramina Sensorimotor neuropathy Abnormality of the cervical spine Abnormality of femur morphology Dysdiadochokinesis Action tremor Facial grimacing Phonophobia Broad distal phalanx of finger Abnormality of eye movement Vascular ring Nasolacrimal duct obstruction Abnormal number of teeth Atrophy of the spinal cord Generalized limb muscle atrophy Distal amyotrophy Plantar crease between first and second toes Lower limb hypertonia Radial deviation of thumb terminal phalanx Dystonia Dementia High axial triradius Bifid uterus Papillary cystadenoma of the epididymis Enlarged tonsils Talon cusp Deviated nasal septum Premature thelarche Cerebral cortical atrophy Narrow maxilla Large foramen magnum Agoraphobia Rhabdomyosarcoma Abnormal cornea morphology Single transverse palmar crease Low anterior hairline Delayed cranial suture closure Broad hallux Axial dystonia Laryngomalacia Recurrent upper respiratory tract infections Bicuspid aortic valve Spina bifida occulta Narrow palate Wide anterior fontanel Truncal obesity Exotropia Stereotypy Distal lower limb muscle weakness Hypoplasia of dental enamel Mitral regurgitation Convex nasal ridge Limb tremor Recurrent fractures Facial myokymia Myokymia Congenital glaucoma Medulloblastoma Low hanging columella Pheochromocytoma Avascular necrosis of the capital femoral epiphysis Abnormality of refraction Head tremor Flared iliac wings Dyslexia Meningioma Hypoplastic iliac wing Capillary hemangioma Neurofibromas Obstructive sleep apnea Self-mutilation Patellar dislocation Poor coordination Spinocerebellar tract degeneration Overweight Shawl scrotum Neuroblastoma Dislocated radial head Acute monocytic leukemia Pancytopenia Bicornuate uterus Bulbous nose Recurrent otitis media Interphalangeal joint contracture of finger Apraxia Hypoplasia of penis Microdontia Underdeveloped nasal alae Broad nasal tip Triangular face Downturned corners of mouth Thin vermilion border Finger clinodactyly Smooth philtrum Joint hyperflexibility Poor speech Hypermetropia Neurological speech impairment Prominent nasal bridge Short philtrum Camptodactyly of finger Craniosynostosis Generalized hirsutism Nephrocalcinosis Joint stiffness Short clavicles Enlarged joints 11 pairs of ribs Villous atrophy Enuresis Abnormality of the clavicle Short columella Cone-shaped epiphyses of the phalanges of the hand Lipoma Sprengel anomaly Proportionate short stature Abnormality of the fingernails Celiac disease High pitched voice Preauricular pit Clubbing Language impairment Trigonocephaly Abnormality of the voice Nasal speech Abnormality of the hand Wide mouth Telecanthus Hyperextensibility of the finger joints Psychosis Insomnia Emotional lability Encephalitis Aminoaciduria Hallucinations Diplopia Chronic diarrhea Inflammatory abnormality of the skin Cutaneous photosensitivity Abnormal blistering of the skin Bruxism Aciduria Migraine Hepatic steatosis Cirrhosis Confusion Skin rash Photophobia Hypertonia Diarrhea Gingivitis Episodic ataxia Aggressive behavior Intellectual disability, mild Arthritis Hydronephrosis Conductive hearing impairment Kyphoscoliosis Mandibular prognathia Posteriorly rotated ears Inguinal hernia Clinodactyly Dilatation Vomiting Methylmalonic aciduria Short neck Brachydactyly Neutral hyperaminoaciduria Grasp reflex Glabellar reflex Hyperphenylalaninemia Neural tube defect Glossitis Mood changes Abnormal urinary color Speech apraxia Broad columella Abnormality of the thumb Horseshoe kidney Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Reduced bone mineral density Renal hypoplasia/aplasia Cranial nerve paralysis Azoospermia Leukopenia Type I diabetes mellitus Bone marrow hypocellularity Tracheoesophageal fistula Hypergonadotropic hypogonadism Abnormal vertebral morphology Insulin resistance Telangiectasia Recurrent urinary tract infections Abnormality of the genital system Choanal atresia Oligohydramnios Triphalangeal thumb Glucose intolerance Tetralogy of Fallot Hearing abnormality Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage External ear malformation Hypoplasia of the ulna Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Hydroureter Ectopic kidney Squamous cell carcinoma Sloping forehead Renal agenesis Stiff neck Broad fingertip Ventriculomegaly Hepatomegaly Visual impairment Anemia Cleft palate Hypertelorism Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Curved fingers Renal insufficiency Enlarged naris Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Varicocele Expressive language delay Spinal dysraphism Congestive heart failure Microphthalmia Lymphoma Dolichocephaly Hypopigmentation of the skin Neutropenia Bruising susceptibility Abnormality of skin pigmentation Astigmatism Anal atresia Facial asymmetry Abnormality of the foot Toe syndactyly Hip dislocation Thrombocytopenia Finger syndactyly Abnormal cardiac septum morphology Abnormality of the liver Irritability Hypertrophic cardiomyopathy Carcinoma Weight loss Diabetes mellitus Hypogonadism Severe short stature Hyperreflexia in upper limbs


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