Hyperreflexia, and Hirsutism

Diseases related with Hyperreflexia and Hirsutism

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

Top matches:

Hypomyelinating leukodystrophy-17 is an autosomal recessive neurodevelopmental disorder characterized by poor, if any, development apparent from infancy. Affected individuals never learn to walk or speak, and have early-onset multifocal seizures, spasticity, poor overall growth, and microcephaly (up to -10 SD). Brain imaging shows multiple abnormalities, including cerebral and cerebellar atrophy, thin corpus callosum, abnormal signals in the basal ganglia, and features suggesting hypo- or demyelination. Some patients may die in childhood (summary by Shukla et al., 2018).For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

  • Seizures
  • Microcephaly
  • Spasticity
  • Flexion contracture
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 17; HLD17

Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

Other less relevant matches:

Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome is a rare, genetic, neurologic disease characterized by congenital microcephaly, severe, early-onset epileptic encephalopathy (manifesting as intractable, myoclonic and/or tonic-clonic seizures), permanent, neonatal, insulin-dependent diabetes mellitus, and severe global developmental delay. Muscular hypotonia, skeletal abnormalities, feeding difficulties, and dysmorphic facial features (including narrow forehead, anteverted nares, small mouth with deep philtrum, tented upper lip vermilion) are frequently associated. Brain MRI reveals cerebral atrophy with cortical gyral simplification and aplasia/hypoplasia of the corpus callosum.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about PRIMARY MICROCEPHALY-EPILEPSY-PERMANENT NEONATAL DIABETES SYNDROME

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

Cerebrooculofacioskeletal syndrome is an autosomal recessive progressive neurodegenerative disorder characterized by microcephaly, congenital cataracts, severe mental retardation, facial dysmorphism, and arthrogryposis (summary by Jaakkola et al., 2010). Genetic Heterogeneity of Cerebrooculofacioskeletal SyndromeSee also COFS2 (OMIM ), caused by mutation in the ERCC2 gene (OMIM ); COFS3 (OMIM ), caused by mutation in the ERCC5 gene (OMIM ); and COFS4 (OMIM ), caused by mutation in the ERCC1 gene (OMIM ).

CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1 Is also known as cofs syndrome|cofs|pena-shokeir syndrome, type ii

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEREBROOCULOFACIOSKELETAL SYNDROME 1; COFS1

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

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

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Top 5 symptoms//phenotypes associated to Hyperreflexia and Hirsutism

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Coarse facial features Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Abnormal facial shape

Uncommon Symptoms - Between 30% and 50% cases

Hepatomegaly Kyphoscoliosis Microcephaly Short neck Mandibular prognathia Abnormality of the skeletal system Generalized hirsutism Flexion contracture Gingival overgrowth Inguinal hernia Dysostosis multiplex Cognitive impairment Recurrent respiratory infections Hearing impairment Short stature Respiratory tract infection Macroglossia Kyphosis Hepatosplenomegaly Cardiomyopathy Muscular hypotonia of the trunk Generalized hypotonia Splenomegaly Skeletal dysplasia Hypertelorism Hypertonia Corneal opacity J-shaped sella turcica Strabismus Micrognathia Optic atrophy Abnormal pyramidal sign Hypertrichosis Intellectual disability, mild Dystonia Umbilical hernia Cerebellar hypoplasia Widely spaced teeth Abnormal heart valve morphology Intellectual disability, profound Deeply set eye Cerebellar atrophy Hypertrophic cardiomyopathy Neurodegeneration Pectus carinatum Camptodactyly of finger Joint stiffness Delayed myelination Severe short stature Hypermetropia Cryptorchidism Anteverted nares Hypoplasia of the corpus callosum Ataxia Scoliosis

Rare Symptoms - Less than 30% cases

Muscular hypotonia Ventriculomegaly Nystagmus Sensorineural hearing impairment Flared iliac wings Growth delay Wide nasal bridge Acetabular dysplasia Atrial septal defect Beaking of vertebral bodies Abnormal heart morphology Coarse hair Joint contracture of the hand Thickened skin Long philtrum Cerebral calcification Thick vermilion border Wide nose Synophrys Telecanthus Long eyelashes Intellectual disability, moderate Macrotia Cardiomegaly Dermatan sulfate excretion in urine Depressed nasal bridge Congestive heart failure Recurrent otitis media Arthralgia Broad nasal tip Microdontia Otitis media Heparan sulfate excretion in urine Abnormal form of the vertebral bodies Abnormal diaphysis morphology Craniosynostosis Thickened ribs Conductive hearing impairment Gait disturbance Abnormality of the dentition Headache Pseudoarthrosis Broad ribs Prominent nasal bridge Hernia Thin vermilion border Prominent nose Elbow flexion contracture Coxa valga Knee flexion contracture Motor delay Macrocephaly Dilatation Hyperlordosis Spinal cord compression Postnatal growth retardation Platyspondyly Poor speech Genu valgum Hip dysplasia Lumbar hyperlordosis Opacification of the corneal stroma Hyperactive deep tendon reflexes Epicanthus Constipation High palate Blindness Apraxia Osteopenia Brisk reflexes Inability to walk Hypsarrhythmia Feeding difficulties Agenesis of corpus callosum Delayed speech and language development Peripheral demyelination Hypertension Insulin resistance Upslanted palpebral fissure Low posterior hairline Clinodactyly Hepatic steatosis Hyperactivity Short nose Cerebral atrophy Developmental regression Absent speech Encephalopathy Respiratory insufficiency Tremor Sleep disturbance Neuronal loss in central nervous system Celiac disease Clubbing Proportionate short stature Trigonocephaly High pitched voice Short clavicles Sprengel anomaly Abnormality of the sella turcica Preauricular pit Abnormality of the skull base Language impairment Impulsivity Abnormality of lysosomal metabolism Posterior scalloping of vertebral bodies Speech apraxia Small abnormally formed scapulae Short tubular bones of the hand Spinal dysraphism Stiff neck Tethered cord Broad columella Hyperextensibility of the finger joints Enlarged joints Lipoma 11 pairs of ribs Villous atrophy Enuresis Short attention span Abnormality of the clavicle Short columella Cone-shaped epiphyses of the phalanges of the hand Abnormality of the voice Protuberant abdomen Abnormal metaphyseal trabeculation Feeding difficulties in infancy Bulbous nose Smooth philtrum Contractures of the joints of the upper limbs Joint hyperflexibility Malabsorption Small for gestational age Neurological speech impairment Short philtrum Wide mouth Joint laxity Small hand Aggressive behavior Anxiety Arthritis Hydronephrosis Thin upper lip vermilion Gastroesophageal reflux Hypothyroidism Abnormality of the styloid process of ulna Posteriorly rotated ears Downturned corners of mouth Hypoplasia of the maxilla Nasal speech Abnormality of cranial sutures Abnormality of the hand Abnormality of the fingernails Nephrocalcinosis Dilated third ventricle Finger clinodactyly Abnormality of femoral epiphysis Short thumb Broad thumb Anterior scalloping of vertebral bodies Short palpebral fissure Triangular face Abnormality of the glenoid fossa Abnormality of the lumbar spine Abnormality of glycosaminoglycan metabolism Interphalangeal joint contracture of finger Coarctation of aorta Hypoplasia of penis Widely patent coronal suture Underdeveloped nasal alae Increased size of nasopharyngeal adenoids Dental malocclusion Abnormality of the breast Abnormality of the tonsils Short upper lip Abnormality of dental enamel Increased intracranial pressure Cor pulmonale Sagittal craniosynostosis Shield chest Arnold-Chiari malformation Nasal obstruction Abnormality of the metacarpal bones Myelopathy Abnormal cornea morphology Carpal bone hypoplasia Easy fatigability Babinski sign Short ribs Aortic valve stenosis Abnormal vertebral morphology Platybasia Wide cranial sutures Abnormality of retinal pigmentation Abnormal nerve conduction velocity Lower limb spasticity Dilation of lateral ventricles Sparse pubic hair Abnormality of the ribs Chronic sinusitis Spinal canal stenosis Arthropathy Exertional dyspnea Peripheral visual field loss Restrictive ventilatory defect Blepharitis Papilledema Obstructive sleep apnea Multiple joint contractures Diastasis recti Sparse axillary hair Hypoplastic iliac wing Toe walking Abnormality of dental morphology Heart murmur Abnormality of the ulna Chronic otitis media Tracheal stenosis Hydrocele testis Back pain Communicating hydrocephalus Peripheral edema Progressive visual loss Exercise-induced muscle stiffness Curved fingers Optic nerve compression Progressive flexion contractures Pes cavus Diarrhea Visual impairment Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Abnormality of the acetabulum Abdominal pain Abnormality of mucopolysaccharide metabolism Limited shoulder movement Enlarged naris Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Persistent left superior vena cava Rhinitis Varicocele Expressive language delay Frontal hirsutism Glaucoma Corneal crystals Astigmatism Limitation of joint mobility Abnormality of the radius Aortic valve calcification Abnormality of the optic disc Asthma Abnormality of the gingiva Retinal degeneration Hip subluxation Mitral valve calcification Lower limb muscle weakness Hyperkeratosis Hernia of the abdominal wall Limb muscle weakness Carious teeth Delayed menarche Dolichocephaly Nyctalopia Retrognathia Urinary glycosaminoglycan excretion Cervical instability Proptosis Congenital hip dislocation Mild short stature Clinodactyly of the 5th finger CNS hypomyelination Primitive reflex Thin bony cortex Prolonged neonatal jaundice Long palpebral fissure Pathologic fracture Cortical gyral simplification Overfolded helix Deep philtrum Tented upper lip vermilion Tented philtrum Scrotal hypoplasia Narrow palate Cerebral visual impairment Cerebellar vermis hypoplasia Narrow forehead Generalized-onset seizure Full cheeks Generalized myoclonic seizures Tapered finger Microalbuminuria Anemia Neonatal hypotonia Glomerulosclerosis Cataract Failure to thrive Hypoplastic acetabulae Obstructive lung disease Macrovesicular hepatic steatosis Large forehead Tubular atrophy Barrel-shaped chest Focal segmental glomerulosclerosis Bone marrow hypocellularity Respiratory distress Abnormal lung morphology Brain atrophy Abnormality of the foot Hip dislocation Proteinuria Prominent forehead Patent ductus arteriosus Pectus excavatum Thrombocytopenia Abnormality of the liver Elevated hepatic transaminase Microphthalmia Anteverted ears Gait ataxia Respiratory failure Myoclonus Myopathy Multifocal seizures Low hanging columella Spontaneous abortion Leukodystrophy Thick hair Cirrhosis Mild microcephaly Abnormality of finger Poor head control Oculomotor apraxia Narrow palpebral fissure Epileptic encephalopathy Dysmetria Sparse hair Syndactyly Mental deterioration Status epilepticus Jaundice Caudate atrophy Narrow mouth Cerebral cortical atrophy Diabetes mellitus Hypogonadism Pneumonia Obesity Ptosis Reduced intraabdominal adipose tissue Poor motor coordination Progressive psychomotor deterioration Tetraparesis Generalized lipodystrophy Progressive encephalopathy Loss of speech Limb dystonia Reduced subcutaneous adipose tissue Hyperinsulinemia Lipodystrophy Acanthosis nigricans Hypertriglyceridemia Intellectual disability, severe Osteoporosis Delayed skeletal maturation Weight loss Abnormality of the urinary system Abnormality of epiphysis morphology Abnormality of the metaphysis Depressed nasal ridge Abnormality of the skin Abdominal distention Abnormality of movement Dilated cardiomyopathy Dementia Bundle branch block Frontal bossing Skeletal muscle atrophy Muscle weakness Anterior beaking of lower thoracic vertebrae Proximal tapering of metacarpals Decreased pulmonary function Anterior beaking of lumbar vertebrae Snoring Narrow greater sacrosciatic notches Encephalitis Generalized dystonia Prominent sternum Decreased beta-galactosidase activity Hypospadias Abnormality of cardiovascular system morphology Vomiting Intrauterine growth retardation Brachydactyly Dysarthria Low-set ears Neoplasm Abnormality of ganglioside metabolism Cerebral degeneration Abnormality of the retinal vasculature Abnormality of the scrotum Angiokeratoma corporis diffusum Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Vacuolated lymphocytes Exaggerated startle response Psychomotor deterioration Aplasia/Hypoplasia of the abdominal wall musculature Thoracic kyphoscoliosis Thoracolumbar kyphosis Camptodactyly Abnormality of the ear Recurrent infections Edema Hydrocephalus Talipes equinovarus Second metatarsal posteriorly placed Deep longitudinal plantar crease Long ear Miosis Osteopetrosis Rocker bottom foot Dyspnea Congenital muscular dystrophy Cutaneous photosensitivity Sloping forehead Wide intermamillary distance Gliosis Congenital cataract Arthrogryposis multiplex congenita Muscular dystrophy Blepharophimosis Arrhythmia Polyhydramnios Pulmonary insufficiency Recurrent upper respiratory tract infections Recurrent ear infections Nonimmune hydrops fetalis Thoracolumbar scoliosis Thoracic kyphosis Hypoplasia of the odontoid process Metatarsus adductus Spondyloepiphyseal dysplasia Pleural effusion Pterygium Cardiac arrest Abnormality of the nervous system Hydrops fetalis Broad-based gait Spastic tetraplegia Webbed neck Tetraplegia Ascites Thick eyebrow Vertigo Facial asymmetry Abnormality of the humeral epiphysis


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