Hyperreflexia, and Gynecomastia

Diseases related with Hyperreflexia and Gynecomastia

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

Top matches:

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome is a rare, genetic intellectual disability syndrome characterized by macrocephaly, hypotonia, dysmorphic facial features (wide forehead, ptosis, downslanting palpebral fissures, enlarged and calcified external ears, large jaw), sparse body hair, tall stature, and intellectual disability. Hearing loss, insulin-resistant diabetes, and progressive distal muscle wasting (leading to joint contractures) have also been reported in adulthood. Rare manifestations include behavioral abnormalities (aggression and restlessness), hypothyroidism, cerebral calcification, ataxia, and peripheral neuropathy.

INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME Is also known as primrose syndrome|ossified ear cartilages with mental deficiency, muscle wasting, and bony changes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INTELLECTUAL DISABILITY-CATARACTS-CALCIFIED PINNAE-MYOPATHY SYNDROME

Medium match H SYNDROME

H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

Other less relevant matches:

Medium match KENNEDY DISEASE

Kennedy's disease, also known as bulbospinal muscular atrophy (BSMA), is a rare X-linked recessive motor neuron disease characterized by proximal and bulbar muscle wasting.

KENNEDY DISEASE Is also known as x-linked bulbospinal muscular atrophy|x-linked bsma|x-linked bulbospinal amyotrophy|x-linked spinal and bulbar muscular atrophy|smax1|sbma

Related symptoms:

  • Muscular hypotonia
  • Dysarthria
  • Skeletal muscle atrophy
  • Gait disturbance
  • Hyporeflexia


SOURCES: ORPHANET MENDELIAN

More info about KENNEDY DISEASE

Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

RIBOFLAVIN TRANSPORTER DEFICIENCY Is also known as sensorineural hearing loss-pontobulbar palsy syndrome|brown-vialetto-van laere syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about RIBOFLAVIN TRANSPORTER DEFICIENCY

Myopathic mitochondrial DNA (mtDNA) depletion syndrome is one of the main forms of mtDNA depletion syndrome (see this term) that displays a broad phenotypic spectrum but that is most often characterized by hypotonia, proximal muscle weakness, facial and bulbar weakness and failure to thrive.

MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM Is also known as mtdna depletion syndrome, myopathic form|mitochondrial dna depletion myopathy, tk2-related

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM

Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Aromatase excess syndrome is a rare, genetic endocrine disease characterized by increased levels of estrogen due to elevated extraglandular aromatase activity. Males present with heterosexual precocious puberty which manifests with pre- or peripubertal onset of gynecomastia, premature growth spurt, accelerated bone maturation resulting in decreased adult stature, and may present mild hypogonadotropic hypogonadism. Female patients may have isosexual precocious puberty or not have any manifestations at all.

AROMATASE EXCESS SYNDROME Is also known as aexs|familial hyperestrogenism|hereditary prepubertal gynecomastia|aromatase activity, increased

Related symptoms:

  • Short stature
  • Neoplasm
  • Hypogonadism
  • Falls
  • Gynecomastia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AROMATASE EXCESS SYNDROME

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH ) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).'For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see {147950}.

HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7 Is also known as ihh|hypogonadism, isolated hypogonadotropic|idiopathic hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • Cryptorchidism
  • Hypogonadism


SOURCES: OMIM MENDELIAN

More info about HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA; HH7

Top 5 symptoms//phenotypes associated to Hyperreflexia and Gynecomastia

Symptoms // Phenotype % cases
Hypogonadism Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Hyporeflexia Ptosis Short stature Muscular hypotonia Pneumonia Generalized hypotonia Global developmental delay Conductive hearing impairment Decreased testicular size Gait disturbance Sensorineural hearing impairment Tremor Dysarthria Infertility Myoclonus Limb muscle weakness Diabetes mellitus Myopathy Flexion contracture Peripheral neuropathy Hypothyroidism Hypergonadotropic hypogonadism Muscle weakness Type II diabetes mellitus Proximal muscle weakness Testicular atrophy Respiratory insufficiency

Rare Symptoms - Less than 30% cases

Abnormality of lipid metabolism Hepatosplenomegaly Thickened skin Facial palsy Abnormality of the kidney Retinopathy Visual impairment Hypertension Otitis media Neurodegeneration Abnormality of eye movement Optic disc pallor Hypotrichosis Hypogonadotrophic hypogonadism Delayed puberty Lymphadenopathy Osteolysis Dyspnea Plagiocephaly Poor coordination Erectile abnormalities Pain Dysphagia Elevated serum creatine phosphokinase Growth delay Myalgia Muscular dystrophy Decreased fertility Menstrual irregularities Splenomegaly Hyperlipidemia Clinodactyly Pes planus Insulin-resistant diabetes mellitus Patent ductus arteriosus Alopecia Failure to thrive Bulbar palsy Truncal obesity Hyperkeratosis Micropenis Bilateral cryptorchidism Dysphonia Oligospermia Diabetes insipidus Accelerated skeletal maturation Aggressive behavior Acne Cataract Cardiomegaly Epidermal acanthosis Neoplasm Scoliosis Aspiration pneumonia Hypertriglyceridemia Primary amenorrhea Severe sensorineural hearing impairment Hyperpigmentation of the skin Aspiration Precocious puberty Anemia Sleep apnea Lactic acidosis Lipodystrophy Abnormal pyramidal sign Developmental regression Gait ataxia Pes cavus Dystonia Hyperglycemia Cognitive impairment Strabismus Cryptorchidism Hepatomegaly Hepatic failure Areflexia Intellectual disability, mild Growth hormone deficiency Kyphosis Behavioral abnormality Fatigue Autism Irritability Ophthalmoplegia Hydrocephalus Amenorrhea Anteverted nares Deeply set eye Decreased serum testosterone level Respiratory failure Elevated alkaline phosphatase Generalized hirsutism Tachypnea Pancreatitis Hyperinsulinemia Portal hypertension Acanthosis nigricans Nephrocalcinosis Macular degeneration Atherosclerosis Left ventricular hypertrophy Cholelithiasis Abnormality of retinal pigmentation Sinusitis Short toe Absence seizures Decreased liver function Hypercholesterolemia Recurrent pneumonia Insulin resistance Goiter Recurrent urinary tract infections Polycystic ovaries Horizontal nystagmus Abnormality of the hand Anorexia Increased body weight Chronic diarrhea Cone/cone-rod dystrophy Hepatic fibrosis Hirsutism Involuntary movements Recurrent respiratory infections Pallor Respiratory tract infection Postnatal growth retardation Proteinuria Elevated hepatic transaminase Photophobia Jaundice Kyphoscoliosis Gastroesophageal reflux Weight loss Polydactyly Abdominal pain Hyperhidrosis Rod-cone dystrophy Constipation Abnormality of the liver Vomiting Motor delay Optic atrophy Short neck Respiratory distress Cardiomyopathy Blindness Congestive heart failure Visual loss Abnormality of the dentition Renal insufficiency Dilatation Obesity Depressivity Encephalopathy Autistic behavior Sparse hair Recurrent otitis media Nephropathy Pulmonary arterial hypertension Hepatitis Pigmentary retinopathy Cyanosis Specific learning disability Progressive visual loss Gastrointestinal hemorrhage Round face Urinary incontinence Vesicoureteral reflux Asthma Abdominal distention Ascites Sleep disturbance Hepatic steatosis Scarring Carious teeth Nyctalopia Cough Dilated cardiomyopathy Generalized tonic-clonic seizures Hypermetropia Pulmonic stenosis Dry skin Retinal dystrophy Retinal degeneration Stage 5 chronic kidney disease Nausea Cirrhosis Tachycardia Nephritis Polydipsia Pericarditis Chronic otitis media Epigastric pain Facial hirsutism Chronic hepatic failure Hepatic necrosis Hypoplastic male external genitalia Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Abnormal muscle tone Female hypogonadism Impaired temperature sensation Urethral stricture Abnormal chorioretinal morphology Abnormality of dental color Multifocal atrial tachycardia Hematemesis Abnormality of female external genitalia Multinodular goiter Bull's eye maculopathy Vertical nystagmus Increased total bilirubin Frontal balding Melena Lumbar scoliosis First degree atrioventricular block Abnormality of the optic disc Decreased glomerular filtration rate Abnormal spermatogenesis Chronic infection Abnormality of the urethra ST segment depression Childhood-onset truncal obesity Urethral stenosis EEG with occipital slowing Microphallus Sparse pubic hair Sparse axillary hair Anosmia Abnormality of the eye Cleft palate Breast hypertrophy Isosexual precocious puberty Falls Abnormality of the femoral head Vitreous haze Localized hirsutism Abnormality of renal calyx morphology Abnormality of prothrombin Precocious puberty in females High-frequency sensorineural hearing impairment Receptive language delay Increased circulating androgen level Exudative retinopathy Nonproductive cough Abnormal adipose tissue morphology Chronic active hepatitis Hyperostosis frontalis interna Granular macular appearance Abnormal retinal artery morphology Thickened ears Dilatation of the bladder Unilateral breast hypoplasia Glue ear Recurrent cystitis Widely-spaced incisors Hepatic encephalopathy Achromatopsia Obsessive-compulsive behavior Progressive sensorineural hearing impairment Hyperventilation Alopecia of scalp Peripheral visual field loss Retinal atrophy Hypoventilation Autoimmune thrombocytopenia Thoracic scoliosis Feeding difficulties Subcapsular cataract Increased number of teeth Hyperuricemia Bronchitis Glycosuria Glomerulopathy Agenesis of permanent teeth Posterior subcapsular cataract Emphysema Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Impaired vibratory sensation Hyperostosis Glucose intolerance Polyuria Pulmonary fibrosis Short finger Hydroureter Urinary urgency Abnormal retinal morphology Pericardial effusion Chorioretinal atrophy Polyphagia Oligomenorrhea Broad foot Acute pancreatitis Abnormal left ventricle morphology Decreased HDL cholesterol concentration Abnormal renal morphology Endocardial fibroelastosis Retinal pigment epithelial atrophy Disinhibition Abnormal renal physiology Tubulointerstitial fibrosis High-frequency hearing impairment Elevated C-reactive protein level Arteriosclerosis Urinary retention Poor fine motor coordination Pyelonephritis Chills Ovarian cyst Restrictive cardiomyopathy Ketoacidosis Acute hepatic failure Gingivitis Pendular nystagmus Tubulointerstitial nephritis Attenuation of retinal blood vessels Right ventricular hypertrophy Elevated serum creatinine Recurrent bronchitis Esophageal varix Tubular atrophy Myocarditis Male hypogonadism Myocardial fibrosis Chronic fatigue Chronic obstructive pulmonary disease Delayed speech and language development Decreased LDL cholesterol concentration Nystagmus Broad face Motor tics Basilar impression Absent axillary hair Posterior polar cataract Abnormal glucose tolerance Narrow iliac wings Ectopic calcification Recurrent ear infections Bone cyst Generalized osteoporosis Tics Dystrophic fingernails Progressive gait ataxia Posterior scalloping of vertebral bodies Thoracic kyphosis Irregular vertebral endplates Restlessness Striae distensae Hip contracture Congenital hypothyroidism Sparse body hair Basal ganglia calcification Ankle clonus Mixed hearing impairment Anonychia Metatarsus adductus Melanocytic nevus Torus palatinus Absent facial hair Schizophrenia Delayed skeletal maturation Cleft upper lip Ichthyosis Abnormality of the foot Malabsorption Pectus carinatum Abnormal cardiac septum morphology Apnea Camptodactyly Low-set, posteriorly rotated ears Proptosis Posteriorly rotated ears Severe short stature Abnormal heart morphology Increased size of the mandible Hernia Edema Atrial septal defect Ventriculomegaly Ventricular septal defect Frontal bossing Fever Wide nasal bridge Brachydactyly Epicanthus Hypertelorism Superiorly displaced ears Calcification of the auricular cartilage Self-injurious behavior Abnormal palate morphology Polyneuropathy Increased intramyocellular lipid droplets Malar flattening Hypertonia Intellectual disability, severe Hypoplasia of the corpus callosum Abnormality of the skeletal system Downslanted palpebral fissures Macrocephaly Abnormal facial shape Micrognathia Focal T2 hypointense basal ganglia lesion Talipes cavus equinovarus Epilepsia partialis continua Generalized tonic seizures Midface retrusion Increased CSF lactate Central hypotonia Axonal degeneration Neurodevelopmental delay Brisk reflexes Exercise intolerance EMG abnormality Increased serum lactate Progressive cerebellar ataxia Stroke Intellectual disability, moderate Muscular hypotonia of the trunk Cerebellar atrophy Microphthalmia Pectus excavatum Spastic paraparesis Short distal phalanx of finger Knee flexion contracture Paraparesis Clonus Abnormal form of the vertebral bodies Sparse scalp hair Thick lower lip vermilion Bradykinesia Cerebral calcification Hip dysplasia Nevus Hypoplasia of the maxilla Downturned corners of mouth Distal amyotrophy Babinski sign Genu valgum Narrow chest Synophrys Congenital cataract Broad forehead Prominent nasal bridge Protruding ear Osteopenia Macrotia Narrow mouth Brachycephaly Osteoporosis Agenesis of corpus callosum Flat face Recurrent fractures Depletion of mitochondrial DNA in muscle tissue Motor neuron atrophy Abnormal cranial nerve morphology Iris hypopigmentation Abnormality of color vision Cachexia Progressive hearing impairment Cranial nerve paralysis Abnormal autonomic nervous system physiology Hallucinations Cerebral cortical atrophy Proximal spinal muscular atrophy Laryngospasm Exercise-induced muscle cramps Limb tremor Cerebral atrophy Tongue atrophy Hyperlipoproteinemia Kinetic tremor Distal lower limb amyotrophy Bulbar signs Hand tremor Abnormality of the mouth Overweight Axonal loss Muscle fibrillation Impotence Amyotrophic lateral sclerosis Calf muscle hypertrophy Abnormality of macular pigmentation Acidosis Limb-girdle muscular dystrophy Decreased muscle mass Loss of ability to walk in early childhood Generalized aminoaciduria Weak voice Decreased activity of mitochondrial respiratory chain Respiratory arrest Abnormality of the basal ganglia Severe lactic acidosis Facial diplegia Mitochondrial myopathy Progressive external ophthalmoplegia Ankle contracture Generalized amyotrophy Toe walking Hyperlordosis Gowers sign Nasal speech Delayed gross motor development EMG: myopathic abnormalities Infantile muscular hypotonia Ragged-red muscle fibers External ophthalmoplegia Respiratory insufficiency due to muscle weakness Scapular winging Intellectual disability, progressive Aminoaciduria Lumbar hyperlordosis Waddling gait Spinal muscular atrophy Fasciculations Full cheeks Stridor Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Episodic fever Polycythemia Scleroderma Lipoatrophy Microcytic anemia Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Psoriasiform dermatitis Communicating hydrocephalus Azoospermia Type I diabetes mellitus Elbow flexion contracture Gingival overgrowth Telangiectasia Bronchiectasis Hypertrichosis Blue sclerae Epistaxis Bilateral sensorineural hearing impairment Mitral valve prolapse Overgrowth Wide intermamillary distance Varicose veins Recurrent pharyngitis Progressive muscle weakness Snoring Intention tremor Abnormal cerebellum morphology Muscle cramps Sensory neuropathy Facial asymmetry Difficulty walking Abnormality of movement Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Stiff skin Episcleritis Nasal obstruction Panniculitis Facial telangiectasia Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Abnormality of cardiovascular system physiology Chronic rhinitis Reticulocytopenia Histiocytosis Skin nodule Bimanual synkinesia


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