Generalized hypotonia, and Sinusitis

Diseases related with Generalized hypotonia and Sinusitis

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

Top matches:

Purine nucleoside phosphorylase (PNP) deficiency is a disorder of purine metabolism characterized by progressive immunodeficiency leading to recurrent and opportunistic infections, autoimmunity and malignancy as well as neurologic manifestations.

PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY Is also known as pnp deficiency|pnpase deficiency|nucleoside phosphorylase deficiency

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about PURINE NUCLEOSIDE PHOSPHORYLASE DEFICIENCY

Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Medium match HYPOPLASMINOGENEMIA

Severe hypoplasminogenemia (HPG) or type 1 plasminogen (plg) deficiency is a systemic disease characterised by markedly impaired extracellular fibrinolysis leading to the formation of ligneous (fibrin-rich) pseudomembranes on mucosae during wound healing.

HYPOPLASMINOGENEMIA Is also known as plasminogen deficiency type 1

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hyperreflexia
  • Macrocephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOPLASMINOGENEMIA

Other less relevant matches:

Medium match FRAGILE X SYNDROME

Fragile X syndrome (FXS) is a rare genetic disease associated with mild to severe intellectual deficit that may be associated with behavioral disorders and characteristic physical features.

FRAGILE X SYNDROME Is also known as marker x syndrome|fraxa syndrome|martin-bell syndrome|mental retardation, x-linked, associated with marxq28|fragile x mental retardation syndrome|frax syndrome|fxs|x-linked mental retardation and macroorchidism

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRAGILE X SYNDROME

Medium match TIMOTHY SYNDROME

Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Medium match ROIFMAN SYNDROME

Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Atelosteogenesis is the name given by Maroteaux et al. (1982) to a lethal chondrodysplasia characterized by distal hypoplasia of the humeri and femurs, hypoplasia of the midthoracic spine, occasionally complete lack of ossification of single hand bones, and the finding in cartilage of multiple degenerated chondrocytes encapsulated in fibrous tissue. Rimoin et al. (1980) termed it 'giant cell chondrodysplasia.' Patients with AO1 exhibit severe short-limbed dwarfism and dislocated elbows, hips, and knees (Jeon et al., 2014). Genetic Heterogeneity of AtelosteogenesisAtelosteogenesis type II (AO2 ) is caused by mutation in the SLC26A2 gene (OMIM ) on chromosome 5q32. AO3 (OMIM ) is also caused by mutation in the FLNB gene (OMIM ).

ATELOSTEOGENESIS, TYPE I; AO1 Is also known as giant cell chondrodysplasia|spondylohumerofemoral hypoplasia|aoi

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about ATELOSTEOGENESIS, TYPE I; AO1

SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Medium match JACOBSEN SYNDROME

Jacobsen syndrome is a multiple congenital anomaly/mental retardation (MCA/MR) contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

JACOBSEN SYNDROME Is also known as monosomy 11qter|del(11)(q23.3)|distal deletion 11q|telomeric deletion 11q|distal monosomy 11q|del(11)(qter)|chromosome 11q deletion syndrome|partial 11q monosomy syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about JACOBSEN SYNDROME

Resistance to thyroid-stimulating hormone (TSH; see {188540}), a hallmark of congenital nongoitrous hypothyroidism, causes increased levels of plasma TSH and low levels of thyroid hormone. Only a subset of patients develop frank hypothyroidism; the remainder are euthyroid and asymptomatic (so-called compensated hypothyroidism) and are usually detected by neonatal screening programs (Paschke and Ludgate, 1997). Genetic Heterogeneity of Congenital Nongoitrous HypothyroidismCHNG2 (OMIM ) is caused by mutation in the PAX8 gene (OMIM ) on chromosome 2q12-q14; CHNG3 (OMIM ) maps to a locus on chromosome 15q25.3; CHNG4 (OMIM ) is caused by mutation in the TSHB gene (OMIM ) on chromosome 1p13; CHNG5 (OMIM ) is caused by mutation in the NKX2-5 gene (OMIM ) on chromosome 5q34; and CHNG6 (OMIM ) is caused by mutation in the THRA gene (OMIM ) on chromosome 17q21.1.

HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1 Is also known as tsh resistance|hypothyroidism, congenital, due to tsh resistance|hypothyroidism, nonautoimmune|rtsh|thyrotropin resistance|hypothyroidism due to unresponsiveness to thyrotropin|thyroid-stimulating hormone, resistance to

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; CHNG1

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Sinusitis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Otitis media Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Sinusitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Pneumonia Constipation Hearing impairment Growth delay Short stature Immunodeficiency Feeding difficulties Failure to thrive Gastroesophageal reflux Midface retrusion Frontal bossing Hypothyroidism Depressivity Depressed nasal bridge Low-set ears Abnormal facial shape Thin upper lip vermilion Hypertelorism Scoliosis Microcephaly Behavioral abnormality Macrocephaly Anxiety Brachydactyly Anteverted nares Single transverse palmar crease Clinodactyly of the 5th finger Hypogonadism Premature birth Deeply set eye Hypoglycemia Clinodactyly Abnormality of cardiovascular system morphology Cardiomegaly Intrauterine growth retardation Prominent forehead Abnormal heart morphology Recurrent infections Abnormality of the dentition Ventricular septal defect Wide nasal bridge Recurrent pneumonia Autistic behavior Intellectual disability, moderate Pes planus High forehead Mandibular prognathia Autism Obesity Strabismus Malar flattening Delayed speech and language development Cryptorchidism Micrognathia Cataract Pain Short nose Intellectual disability, mild Spasticity

Rare Symptoms - Less than 30% cases

Optic atrophy Round face Heterotopia Self-injurious behavior Broad palm Feeding difficulties in infancy Cognitive impairment Intellectual disability, severe Joint hypermobility Talipes Narrow chest Hyperlordosis Polyhydramnios Brachycephaly Myopia Postural instability Neurological speech impairment Facial asymmetry Sensorineural hearing impairment Pectus excavatum Hyperactivity Cerebral cortical atrophy Drooling Abnormality of the outer ear Macrotia Flat occiput Atrial septal defect Coarse facial features Epicanthus Ventriculomegaly Aggressive behavior Recurrent respiratory infections Inguinal hernia Attention deficit hyperactivity disorder Abdominal distention Short neck Hypospadias Spondyloepiphyseal dysplasia Sleep disturbance Microcornea Downslanted palpebral fissures Edema Vomiting Macroglossia Partial agenesis of the corpus callosum Agenesis of corpus callosum Paresthesia Postnatal growth retardation Tachycardia Pachygyria Tachypnea Meningitis Short toe Eczema Oral cleft Abnormality of the thyroid gland Syndactyly Abnormal cardiac septum morphology Short metacarpal Patent ductus arteriosus Arrhythmia Talipes equinovarus Dry skin Flexion contracture Cleft palate Hip dislocation Hypothermia Toe syndactyly Esotropia Microdontia Abnormality of the face Hypoplasia of dental enamel Duodenal atresia Chronic constipation Protruding tongue Long philtrum Hyperkinesis Hyperreflexia Hypertriglyceridemia Scarring Abnormality of the eye Abnormality of vision Splenomegaly Recurrent upper respiratory tract infections Full cheeks Abnormality of metabolism/homeostasis Hepatomegaly Motor delay Hypertrophic cardiomyopathy Myopathy Congestive heart failure Recurrent otitis media Nephrolithiasis Ataxia Recurrent urinary tract infections Hoarse voice Hydrocephalus Hypoplasia of the corpus callosum Chronic otitis media Abnormality of the larynx Leukodystrophy Depressed nasal ridge Large fontanelles Hypotension Broad-based gait Decreased fetal movement Abnormality of the cardiovascular system Abnormality of epiphysis morphology Abnormality of the hair Reduced tendon reflexes Oligodontia Omphalocele Abnormality of the curvature of the vertebral column Jaundice Abnormality of the anus Abnormality of the immune system Progressive spastic paraplegia Giant platelets Open bite Impulsivity Poor suck Abnormality of the urinary system Sacral dimple Hypercholesterolemia Toe clinodactyly Lissencephaly Umbilical hernia Annular pancreas Internal hemorrhage Arteria lusoria Bilateral camptodactyly Congenital thrombocytopenia Megakaryocyte dysplasia Increased body weight Abnormal vertebral morphology Anosmia Stereotypy Hypertension Delayed eruption of teeth Falls Retinal detachment Multinucleated giant chondrocytes in epiphyseal cartilage Ectopic thyroid Abnormal pericardium morphology Hyporeflexia Thyroid agenesis Areflexia Angiokeratoma corporis diffusum Peripheral neuropathy Compensated hypothyroidism Thyroid dysgenesis Distal tapering femur Club-shaped proximal femur Posteriorly rotated ears Large posterior fontanelle Thoracic platyspondyly Multiple joint dislocation Laryngeal stenosis Aplasia/Hypoplasia of the ulna Long clavicles Fibular aplasia Intestinal pseudo-obstruction Coronal cleft vertebrae Lethal skeletal dysplasia Fused cervical vertebrae Pes cavus Upslanted palpebral fissure Small hand Abnormal eyelid morphology Nephropathy Short palm Impaired pain sensation Goiter Growth abnormality Intestinal obstruction Tracheoesophageal fistula Prolonged neonatal jaundice Congenital hypothyroidism Palpebral edema Synophrys Anterior hypopituitarism Hoarse cry Lethargy Pseudohypoparathyroidism Primary hypothyroidism Microtia Thyroid hypoplasia Paralysis Abnormality of the kidney Cleft lip Conductive hearing impairment Increased thyroid-stimulating hormone level EEG abnormality Macular hypoplasia Bruxism Clitoral hypoplasia Short femur Natal tooth Webbed neck Transposition of the great arteries Decreased antibody level in blood Wheezing Bipolar affective disorder Intestinal malrotation Iris coloboma Bruising susceptibility Anal atresia Smooth philtrum Atrioventricular canal defect Dolichocephaly Abnormal eyelash morphology Small for gestational age Leukemia Finger syndactyly Skin rash Coloboma Craniosynostosis Double outlet right ventricle Camptodactyly Low-set, posteriorly rotated ears Slender finger Growth hormone deficiency Hydronephrosis Infantile muscular hypotonia Short thumb Spina bifida Bone marrow hypocellularity Horseshoe kidney Multicystic kidney dysplasia Amblyopia Abnormal form of the vertebral bodies Holoprosencephaly Azoospermia Abnormal palate morphology Schizophrenia Hypoplastic left heart Pyloric stenosis Hand polydactyly Trigonocephaly Ectropion Chorioretinal coloboma Heart murmur Pancytopenia Hammertoe Aplasia/Hypoplasia of the eyebrow Coarctation of aorta Dehydration Telecanthus Retrognathia Drowsiness Everted upper lip vermilion Nasolacrimal duct obstruction Abnormality of the head Premature atrial contractions Hyperacusis Long hallux Urethral stenosis Mood changes Recurrent aspiration pneumonia Excessive daytime sleepiness Velopharyngeal insufficiency Recurrent ear infections Abnormality of upper lip Cavum septum pellucidum Abnormal renal morphology Deep palmar crease Broad face Thick upper lip vermilion U-Shaped upper lip vermilion Aortic valve stenosis Short attention span Central hypothyroidism Self-mutilation Overweight Pelvic kidney Morphological abnormality of the middle ear Osteopenia Retinal dysplasia Osteoporosis Hernia Thrombocytopenia Cerebral atrophy Microphthalmia Missing ribs Ptosis Sleep-wake inversion Frequent temper tantrums Diastasis recti Head-banging Abnormal tracheobronchial morphology Eyelid coloboma Ectopic anus Mitral stenosis Broad hallux phalanx Abnormality of the forearm Nuclear cataract Aplasia/Hypoplasia of the earlobes Labial hypoplasia Abnormal thrombocyte morphology Midline brain calcifications Broad columella 11 pairs of ribs Underdeveloped nasal alae Radial bowing Gingivitis Duodenal ulcer Abnormality of the middle ear Keratoconjunctivitis Poor wound healing Recurrent pharyngitis Abnormality of the ovary Stomatitis Abnormality of the respiratory system Recurrent bronchitis Periodontitis Premature loss of teeth Abnormality of the gallbladder Abnormality of the ear Epiphora Nephritis Venous thrombosis Conjunctivitis Gingival overgrowth Dandy-Walker malformation Abnormality of the skin Asthma Papule Cerebellar hypoplasia Gastrointestinal inflammation Abnormality of the fallopian tube Blindness Joint laxity Large hands Premature ovarian insufficiency Relative macrocephaly Narrow face Hyperpigmentation of the skin Mitral valve prolapse Overgrowth Thick vermilion border Long face Wide mouth Protruding ear Neonatal hypotonia Abnormality of the mediastinum Absent speech Dilatation High palate Pneumomediastinum Decreased level of plasminogen Cervicitis Vaginitis Geographic tongue Chronic irritative conjunctivitis Abnormality of fontanelles Reduced factor XII activity Visual loss Ketotic hypoglycemia Polyphagia Autoimmune thrombocytopenia Brain abscess Cerebral vasculitis Recurrent opportunistic infections Abnormal T cell morphology Autoimmune neutropenia Pure red cell aplasia Hypouricemia Impaired T cell function Recurrent viral infections Recurrent lower respiratory tract infections Autoimmune hemolytic anemia Abnormality of B cell physiology Spastic diplegia Spastic tetraparesis Recurrent bacterial infections Lymphopenia Tetraparesis Spastic tetraplegia Lymphoma Tetraplegia Abnormal pyramidal sign Babinski sign Tremor Lymph node hypoplasia Muscle weakness Periportal fibrosis Epistaxis Micronodular cirrhosis Skeletal myopathy Recurrent corneal erosions Ketosis Recurrent sinusitis Progressive hearing impairment Hyperlipidemia Decreased liver function Hepatic fibrosis Progressive muscle weakness Ventricular hypertrophy Broad nasal tip Skeletal muscle atrophy Distal amyotrophy Hepatic failure Thin vermilion border Cirrhosis Abnormality of the liver Carcinoma Myalgia Proximal muscle weakness Elevated hepatic transaminase Elevated serum creatine phosphokinase Cardiomyopathy Abnormality of neuronal migration Poor eye contact Bell-shaped thorax Short digit Abdominal pain Severe short stature Respiratory distress Abnormality of the skeletal system Gait disturbance Biconvex vertebral bodies Irregular femoral epiphysis Noncompaction cardiomyopathy Prominent eyelashes Humoral immunodeficiency Pulmonary edema Weight loss Narrow nose Irregular vertebral endplates Hip contracture Long palpebral fissure Pleural effusion Eosinophilia Narrow palpebral fissure Finger clinodactyly Retinal dystrophy Downturned corners of mouth Lymphadenopathy Respiratory failure Proptosis Fatigue Absence seizures Loss of speech Short humerus Atonic seizures Progressive spasticity Tibial bowing Clubbing Oral-pharyngeal dysphagia Elbow dislocation Short metatarsal Disproportionate short-limb short stature Joint dislocation Muscle stiffness Skeletal dysplasia Aspiration Rhizomelia Encephalocele Lumbar hyperlordosis Limb undergrowth Generalized myoclonic seizures Inability to walk Nausea Poor speech Generalized tonic-clonic seizures Respiratory tract infection Hepatosplenomegaly Abnormal direction of ventricular apex Macroorchidism Macroorchidism, postpubertal Syncope Sudden cardiac death Hypoplasia of the maxilla Coma Carious teeth Encephalopathy Dysphagia Severe temper tantrums Congenital macroorchidism Folate-dependent fragile site at Xq28 Increased size of the mandible Finger joint hypermobility Pulmonary arterial hypertension Encopresis Oppositional defiant disorder Periventricular gray matter heterotopia Abnormal head movements Shyness Irregular dentition Mood swings Ascending tubular aorta aneurysm Hyperextensibility of the finger joints Enuresis Large forehead Tetralogy of Fallot Bradycardia Atrioventricular dissociation Prolonged QT interval T-wave alternans Abnormality of dental color Frontal balding Biventricular hypertrophy Cutaneous syndactyly of toes Torsade de pointes Perimembranous ventricular septal defect Amelogenesis imperfecta Cutaneous finger syndactyly Bronchitis Mixed hearing impairment Multiple joint contractures Cardiac arrest 2-3 toe syndactyly Ventricular fibrillation Obsessive-compulsive behavior Patent foramen ovale Atrioventricular block Optic nerve hypoplasia Ventricular arrhythmia Cutaneous syndactyly Ventricular tachycardia Abnormality of dental enamel Hypocalcemia Abnormality of reproductive system physiology


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hyperreflexia and Generalized myoclonic seizures, related diseases and genetic alterations Immunodeficiency and Fatigue, related diseases and genetic alterations Peripheral neuropathy and Proximal muscle weakness, related diseases and genetic alterations Anemia and Dolichocephaly, related diseases and genetic alterations Leukemia and Hematuria, related diseases and genetic alterations