Generalized hypotonia, and Pruritus
Diseases related with Generalized hypotonia and Pruritus
In the following list you will find some of the most common rare diseases related to Generalized hypotonia and Pruritus that can help you solving undiagnosed cases.
Top matches:
Medium match HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7
A very rare disorder caused by mutation in the SCN11A gene. Affected individuals are unable to experience pain since birth resulting in self-inflicted injuries.
HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7 Is also known as hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction|cip with hyperhidrosis and gastrointestinal dysfunction|hsan with hyperhidrosis and gastrointestinal dysfunction|congenital insensitivity to pain with hyperhid
Related symptoms:
- Generalized hypotonia
- Failure to thrive
- Muscle weakness
- Pain
- Motor delay
SOURCES: ORPHANET OMIM MENDELIAN
More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 7Medium match AICARDI-GOUTIERES SYNDROME 2; AGS2
- Seizures
- Generalized hypotonia
- Microcephaly
- Spasticity
- Hyperreflexia
More info about AICARDI-GOUTIERES SYNDROME 2; AGS2
Medium match AICARDI-GOUTIERES SYNDROME 3; AGS3
Aicardi-Goutieres syndrome is an autosomal recessive disorder characterized by onset of encephalopathy in the first year of life following normal early development. Affected infants typically show extreme irritability, intermittent unexplained fever, chilblains, progressive microcephaly, spasticity, dystonia, and profound psychomotor retardation. Laboratory studies show lymphocytosis and raised titers of alpha-interferon in the cerebrospinal fluid. Brain imaging may show white matter abnormalities, intracerebral calcifications, and cerebral atrophy. Many patients die in childhood (summary by Vogt et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Aicardi-Goutieres syndrome, see AGS1 (OMIM ).
Related symptoms:
- Seizures
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Nystagmus
More info about AICARDI-GOUTIERES SYNDROME 3; AGS3
Other less relevant matches:
Medium match AICARDI-GOUTIERES SYNDROME 4; AGS4
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
More info about AICARDI-GOUTIERES SYNDROME 4; AGS4
Arthrogryposis-Renal dysfunction-Cholestasis (ARC) syndrome is a multisystem disorder, characterized by neurogenic arthrogryposis multiplex congenita, renal tubular dysfunction and neonatal cholestasis with low serum gamma-glutamyl transferase activity.
ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROME Is also known as arc syndrome|arcs
Related symptoms:
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Microcephaly
- Failure to thrive
SOURCES: OMIM ORPHANET MENDELIAN
More info about ARTHROGRYPOSIS-RENAL DYSFUNCTION-CHOLESTASIS SYNDROMEMedium match PRADER-WILLI SYNDROME; PWS
Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.
PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
More info about PRADER-WILLI SYNDROME; PWS
Medium match CARDIOFACIOCUTANEOUS SYNDROME
Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.
CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES: ORPHANET OMIM MENDELIAN
More info about CARDIOFACIOCUTANEOUS SYNDROMELow match MATERNAL RIBOFLAVIN DEFICIENCY
Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances.
Related symptoms:
- Generalized hypotonia
- Vomiting
- Acidosis
- Photophobia
- Hypoglycemia
SOURCES: ORPHANET OMIM MENDELIAN
More info about MATERNAL RIBOFLAVIN DEFICIENCYLow match SINGLETON-MERTEN SYNDROME 2; SGMRT2
Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).
Related symptoms:
- Short stature
- Generalized hypotonia
- Muscle weakness
- Abnormal facial shape
- Flexion contracture
More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2
LICS is an autosomal recessive chromosome breakage syndrome characterized by failure to thrive in infancy, immune deficiency, and fatal progressive pediatric lung disease induced by viral infection. Some patients may have mild dysmorphic features (summary by van der Crabben et al., 2016).
Related symptoms:
- Global developmental delay
- Generalized hypotonia
- Hypertelorism
- Failure to thrive
- Abnormal facial shape
More info about LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME; LICS
Top 5 symptoms//phenotypes associated to Generalized hypotonia and Pruritus
| Symptoms // Phenotype | % cases |
|---|---|
| Global developmental delay | Common - Between 50% and 80% cases |
| Failure to thrive | Uncommon - Between 30% and 50% cases |
| Seizures | Uncommon - Between 30% and 50% cases |
| Encephalopathy | Uncommon - Between 30% and 50% cases |
| Cerebral atrophy | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms
Patients with Generalized hypotonia and Pruritus. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Microcephaly Short stature Feeding difficulties Dystonia Abnormality of the dentition Lymphocytosis Muscular hypotonia High palate Nystagmus Hyperkeratosis Edema Thrombocytopenia Elevated hepatic transaminase Depressed nasal bridge Osteopenia Ventriculomegaly Abnormal facial shape Leukodystrophy Growth delay Low-set ears Inflammatory abnormality of the skin Muscle stiffness Vomiting Micrognathia Cerebral calcification Failure to thrive in infancy Poor suck Hypertonia SpasticityRare Symptoms - Less than 30% cases
Abnormal bleeding Atopic dermatitis Chromosome breakage Genu valgum Hypothermia Aortic valve stenosis Hip dysplasia Acidosis Ichthyosis Sleep disturbance Dolichocephaly Full cheeks Atrial septal defect Talipes equinovarus Ventricular septal defect Narrow forehead Growth hormone deficiency Hypermetropia Kyphosis Leukemia Myopia Short nose Prominent forehead Congestive heart failure Hearing impairment Autism Intellectual disability, severe Photophobia Hypoglycemia Respiratory tract infection Epicanthus Delayed speech and language development Cryptorchidism Sleep apnea Strabismus Neoplasm Behavioral abnormality Intellectual disability Scoliosis Metabolic acidosis Abnormality of the cardiovascular system Hypoplasia of the corpus callosum Hepatomegaly CSF lymphocytic pleiocytosis Progressive microcephaly Abnormality of the cerebral white matter Severe global developmental delay Irritability Muscular hypotonia of the trunk Fever Dry skin Dilatation Optic atrophy Hyperreflexia Hyperhidrosis Constipation Motor delay Pain Muscle weakness Intrauterine growth retardation Hepatosplenomegaly Hydrocephalus Bradycardia Apnea Pneumonia Hypertelorism Splenomegaly Abnormality of the eye Bilateral ptosis Brittle hair Abnormality of skin pigmentation Redundant skin Low-set, posteriorly rotated ears Hyperextensible skin Deep philtrum Hypertrophic cardiomyopathy Relative macrocephaly Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the kidney Abnormality of the genitourinary system Hemangioma Telecanthus Scaling skin Sparse eyebrow Heart murmur Bruising susceptibility Joint hypermobility Malnutrition Open bite Large for gestational age Coarse facial features Absent eyebrow Obsessive-compulsive behavior Chronic otitis media Abnormal palate morphology Cubitus valgus Umbilical hernia Melanocytic nevus Ectropion Pleural effusion Long face EEG abnormality Hydronephrosis Aggressive behavior Aplasia/Hypoplasia of the corpus callosum Cutis laxa Vesicoureteral reflux Nevus Cafe-au-lait spot Thickened skin Decreased body weight Open mouth Pulmonic stenosis Hemiparesis Myocardial infarction Fine hair Hydroureter Hyperpigmentation of the skin Astigmatism Low posterior hairline Coarctation of aorta Cardiomegaly Progressive visual loss Webbed neck Dental malocclusion Premature birth Intestinal malrotation Lymphedema Cerebral visual impairment Feeding difficulties in infancy Thick vermilion border Erythema Oculomotor apraxia Sparse hair Scarring Abnormal cardiac septum morphology Pectus carinatum Sparse eyelashes Retinal dystrophy Falls Narrow palate Aspiration Hepatic steatosis High, narrow palate Abnormality of the nail Palmoplantar keratoderma Neurological speech impairment Abdominal distention Nail dystrophy Hypotrichosis Peripheral axonal neuropathy Bulbous nose Abnormal myocardium morphology Aplasia/Hypoplasia of the eyebrow Puberty and gonadal disorders Lethargy Oral aversion Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Abnormal location of ears Aciduria Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Lactic acidosis Dicarboxylic aciduria Anterior creases of earlobe Midface retrusion Increased sensitivity to ionizing radiation Abnormality of the thymus Dermal translucency Bronchiolitis Prominent superficial veins Mild global developmental delay Emphysema Wide anterior fontanel Abnormal lung morphology Eczema Recurrent infections Elevated plasma acylcarnitine levels Immunodeficiency Calcification of the aorta Pulmonary edema Mitral regurgitation Arthritis Glaucoma Abnormality of the skeletal system Flexion contracture Vitamin B2 deficiency Hyperemesis gravidarum Abnormality of the optic disc Frontal balding Neurodevelopmental delay Underdeveloped supraorbital ridges Abnormality of the ulna Premature skin wrinkling Hypoplasia of the zygomatic bone Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Poor appetite Anal stenosis Short attention span Submucous cleft hard palate Generalized hyperpigmentation Curly hair Biparietal narrowing Multiple cafe-au-lait spots Abnormal heart valve morphology Long palpebral fissure Abnormality of the sternum Infantile spasms Neurofibromas Abnormality of the gastrointestinal tract Woolly hair Endocarditis Thickened helices Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Slow-growing hair Thick upper lip vermilion Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Gastroesophageal reflux Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Macrotia Ocular albinism High forehead Giant cell hepatitis Hyporeflexia Clinodactyly Obesity Syndactyly Intellectual disability, mild Myopathy Hypertension Cognitive impairment Talipes calcaneovalgus Nephrogenic diabetes insipidus Osteoporosis Generalized aminoaciduria Lichenification Cholestatic liver disease Conjugated hyperbilirubinemia Barrel-shaped chest Right ventricular hypertrophy Renal tubular dysfunction Severe failure to thrive Renal tubular acidosis Recurrent respiratory infections Upslanted palpebral fissure Lissencephaly Attention deficit hyperactivity disorder Small hand Downturned corners of mouth Short palm Polymicrogyria Arachnodactyly Infertility Delayed puberty Carious teeth Stroke Abnormality of the pinna Hypogonadism Abnormality of the nervous system Neonatal hypotonia Thin upper lip vermilion Narrow mouth Weight loss Micropenis Respiratory failure Hyperactivity Diabetes mellitus Diabetes insipidus Aminoaciduria Tapered finger Neurodegeneration Anemia Hemiplegia Poor head control Delayed myelination Chronic CSF lymphocytosis Knee clonus Basal ganglia calcification Clonus Progressive neurologic deterioration Paraplegia Respiratory insufficiency Spastic paraplegia Babinski sign Pain insensitivity Chronic constipation Axonal loss Joint dislocation Abnormal autonomic nervous system physiology Diarrhea Peripheral neuropathy Tremor Cerebellar atrophy Hyperbilirubinemia Talipes Nephrocalcinosis Congenital hip dislocation Cholestasis Ventricular hypertrophy Epistaxis Sloping forehead Dehydration Single transverse palmar crease Nephropathy Arthrogryposis multiplex congenita Paralysis Hip dislocation Abnormality of the liver Proteinuria Jaundice Sensorineural hearing impairment Facial paralysis Atrophy/Degeneration affecting the brainstem Leukopenia Pancytopenia Convex nasal ridge Short foot Hypopigmentation of the skin Polyhydramnios Temperature instability Ataxia Acromicria Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Triangular mouth Ptosis Disseminated intravascular coagulation Erysipelas Frontal upsweep of hair Clitoral hypoplasia Anteverted ears Poor fine motor coordination Abdominal obesity Cor pulmonale Generalized hypopigmentation Cataract Dysarthria Acrocyanosis Depressivity Proptosis Cerebral cortical atrophy Posteriorly rotated ears Alopecia Clinodactyly of the 5th finger Delayed skeletal maturation Inguinal hernia Abnormal heart morphology Pectus excavatum Hernia Macrocephaly Abnormality of cardiovascular system morphology Malar flattening Long philtrum Blindness Cardiomyopathy Short neck Anteverted nares Dysphagia Frontal bossing Downslanted palpebral fissures Hypoplasia of the fovea Oligomenorrhea Sepsis Primary amenorrhea Infantile muscular hypotonia Scrotal hypoplasia Bicuspid aortic valve Narrow palpebral fissure Spontaneous abortion Hypogonadotrophic hypogonadism Increased body weight Insulin resistance Clumsiness Cutaneous photosensitivity Precocious puberty Psychosis Type II diabetes mellitus Decreased fetal movement Oligohydramnios Amenorrhea Specific learning disability Febrile seizures Esotropia Gastrointestinal hemorrhage Nasal speech Hyperinsulinemia Overweight Narrow nasal bridge Central hypotonia Abnormality of lipid metabolism Iris hypopigmentation Hypoventilation Hypopigmentation of hair Pulmonary embolism Striae distensae Impaired pain sensation Myeloid leukemia Polyphagia Radial deviation of finger External genital hypoplasia Truncal obesity Decreased muscle mass Adrenal insufficiency Skeletal muscle hypertrophy Albinism Glucose intolerance Inflammation of the large intestine Large hands Emotional lability Bronchiolitis obliteransIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Microdontia, related diseases and genetic alterations Melanoma and Fatigue, related diseases and genetic alterations Micrognathia and Apraxia, related diseases and genetic alterations Nystagmus and Metabolic acidosis, related diseases and genetic alterations Scoliosis and Cone/cone-rod dystrophy, related diseases and genetic alterations Scoliosis and Edema, related diseases and genetic alterations