Congestive heart failure, and Sinusitis

Diseases related with Congestive heart failure and Sinusitis

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


Top matches:

Medium match WHIM SYNDROME


WHIM (warts, hypogammaglobulinemia, infections, and myelokathexis) syndrome is a congenital autosomal dominant immune deficiency characterized by abnormal retention of mature neutrophils in the bone marrow (myelokathexis) and occasional hypogammaglobulinemia, associated with an increased risk for bacterial infections and a susceptibility to human papillomavirus (HPV) induced lesions (cutaneous warts, genital dysplasia and invasive mucosal carcinoma).

WHIM SYNDROME Is also known as warts, hypogammaglobulinemia, infections, and myelokathexis syndrome|warts-infections-leukopenia-myelokatexis syndrome|wilm|warts-hypogammaglobulinemia-infections-myelokathexis syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Fever
  • Congestive heart failure
  • Immunodeficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WHIM SYNDROME

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


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 TETRALOGY OF FALLOT


Tetralogy of Fallot is a congenital cardiac malformation that consists of an interventricular communication, also known as a ventricular septal defect, obstruction of the right ventricular outflow tract, override of the ventricular septum by the aortic root, and right ventricular hypertrophy.

Related symptoms:

  • Growth delay
  • Muscle weakness
  • Cryptorchidism
  • Anemia
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TETRALOGY OF FALLOT

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Other less relevant matches:

Medium match COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY


Common variable immunodeficiency-8 with autoimmunity is an autosomal recessive disorder of immune dysregulation. Affected individuals have early childhood onset of recurrent infections, particularly respiratory infections, and also develop variable autoimmune disorders, including idiopathic thrombocytopenic purpura, autoimmune hemolytic anemia, and inflammatory bowel disease. The presentation and phenotype are highly variable, even within families (summary by Lopez-Herrera et al., 2012 and Alangari et al., 2012). Immunologic findings are also variable and may include decreased B cells, hypogammaglobulinemia, and deficiency of CD4+ T regulatory (Treg) cells (Charbonnier et al., 2015).For a general description and a discussion of genetic heterogeneity of common variable immunodeficiency, see CVID1 (OMIM ).

COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY Is also known as cid due to lrba deficiency

Related symptoms:

  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Anemia
  • Diarrhea


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED IMMUNODEFICIENCY DUE TO LRBA DEFICIENCY

Medium match HURLER-SCHEIE 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

Medium match ALSTRÖM SYNDROME


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

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

Low match MULIBREY NANISM


MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

Low match ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS


Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).

ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS

Low match CLASSIC MULTIMINICORE MYOPATHY


CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

Top 5 symptoms//phenotypes associated to Congestive heart failure and Sinusitis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Otitis media Common - Between 50% and 80% cases
Hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Sinusitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Recurrent respiratory infections Scoliosis Dolichocephaly Clinodactyly Seizures Abnormality of the dentition Generalized hypotonia Abnormal facial shape Depressed nasal bridge Hypertelorism Hepatomegaly Immunodeficiency Respiratory tract infection Intellectual disability Decreased antibody level in blood Cardiomyopathy Hepatosplenomegaly Respiratory distress Strabismus Patent ductus arteriosus Cirrhosis High palate Recurrent otitis media Intrauterine growth retardation Brachydactyly Clinodactyly of the 5th finger Constipation Broad forehead Motor delay Asthma Hypothyroidism Diabetes mellitus Splenomegaly Global developmental delay Micrognathia Sensorineural hearing impairment Macrocephaly Pulmonic stenosis High pitched voice Right ventricular hypertrophy Short neck Thin upper lip vermilion Heart murmur Increased body weight Cyanosis Feeding difficulties Cardiomegaly Pes planus Hypogonadism Growth hormone deficiency Pain Depressivity Muscle weakness Carious teeth Anteverted nares Neoplasm Respiratory failure Wide nasal bridge Pneumonia Tachycardia Intellectual disability, mild

Rare Symptoms - Less than 30% cases


Specific learning disability Abdominal pain Severe short stature Kyphoscoliosis Hyperkeratosis Infertility Ascites Abdominal distention Inguinal hernia Hernia Kyphosis Delayed puberty Respiratory insufficiency Insulin resistance Pigmentary retinopathy Agenesis of permanent teeth Insulin-resistant diabetes mellitus Autoimmune thrombocytopenia Cor pulmonale Scaphocephaly Pericarditis Slender long bone Myocardial fibrosis Pulmonary fibrosis Type II diabetes mellitus Urethral stenosis Tachypnea Acanthosis nigricans Short toe Cognitive impairment Visual impairment Osteopenia Epidermal acanthosis Retinopathy Behavioral abnormality Retrognathia J-shaped sella turcica Multiple joint contractures Abnormal heart valve morphology Peripheral visual field loss Diastasis recti Peripheral edema Coarctation of aorta Abnormality of the optic disc Facial asymmetry Generalized hirsutism Toe syndactyly Small for gestational age Intellectual disability, moderate Ataxia Syndactyly Cataract Frontal bossing Optic atrophy Chronic otitis media Abnormality of retinal pigmentation Conductive hearing impairment Low-set ears Craniosynostosis Postnatal growth retardation Ventriculomegaly Triangular face Nyctalopia Microcephaly Hypermetropia Muscular hypotonia Astigmatism Thickened skin Retinal degeneration Hirsutism Sleep disturbance Hip dysplasia Progressive visual loss Microdontia Abnormal form of the vertebral bodies Toe clinodactyly Chronic diarrhea Aortic valve stenosis Hyperlipidemia Clubbing Obesity Lymphoma Recurrent upper respiratory tract infections Ventricular septal defect Malar flattening Hepatic failure Recurrent sinusitis Double outlet right ventricle Hyperventilation Abnormality of female external genitalia Preauricular pit Easy fatigability Diarrhea Recurrent urinary tract infections Hepatic fibrosis Abnormal cardiac septum morphology Paralysis Dyspnea Proptosis Abnormal heart morphology Arrhythmia Cryptorchidism Anemia Abnormality of cardiovascular system morphology Ventricular hypertrophy Right ventricular failure Recurrent infections Elevated hepatic transaminase Pancytopenia Verrucae Fever Hypertriglyceridemia Combined immunodeficiency Carcinoma Abnormality of the liver Arthritis Scarring Myalgia Thin vermilion border Neutropenia Thrombocytopenia Decreased liver function Lymphadenopathy Hypoglycemia Deeply set eye Bronchiectasis Thickened ears Poor head control Generalized amyotrophy Abnormal retinal artery morphology High-frequency sensorineural hearing impairment Axial muscle weakness Restrictive deficit on pulmonary function testing Widely-spaced incisors Nonproductive cough Spinal rigidity Hyperostosis frontalis interna Abnormal adipose tissue morphology Recurrent cystitis Glue ear Unilateral breast hypoplasia Receptive language delay Increased circulating androgen level Chronic active hepatitis Granular macular appearance Exudative retinopathy Dilatation of the bladder Congenital muscular dystrophy Mandibular prognathia Precocious puberty in females Antegonial notching of mandible Osteoporosis Prominent forehead Agenesis of corpus callosum Pectus excavatum Hypospadias Cerebral atrophy Microphthalmia Short mandibular rami Long philtrum Short nose Atrial septal defect Periodic hyperkalemic paralysis Hydrocephalus Talipes equinovarus Downslanted palpebral fissures EEG with occipital slowing Microretrognathia Abnormality of prothrombin Delayed gross motor development Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Abnormality of the femoral head Mitral valve prolapse Bidirectional ventricular ectopy Spasticity Ptosis Prominent U wave Flexion contracture Epicanthus Prominent frontal sinuses Childhood-onset truncal obesity Syncope Multifocal atrial tachycardia Elevated C-reactive protein level Retinal pigment epithelial atrophy Disinhibition Abnormal renal physiology Abnormal left ventricle morphology Testicular atrophy Tubulointerstitial fibrosis Arteriosclerosis Abnormal renal morphology Urinary retention Poor fine motor coordination Pyelonephritis Chills Acute pancreatitis Achromatopsia Endocardial fibroelastosis Menstrual irregularities Multinodular goiter Myocarditis Tubulointerstitial nephritis Attenuation of retinal blood vessels Elevated serum creatinine Acute hepatic failure Recurrent bronchitis Tubular atrophy Oligospermia Decreased HDL cholesterol concentration Male hypogonadism Chronic fatigue Chronic obstructive pulmonary disease Esophageal varix Restrictive cardiomyopathy High-frequency hearing impairment Ovarian cyst Hepatic encephalopathy Bull's eye maculopathy ST segment depression Hypoplastic male external genitalia Albuminuria Renovascular hypertension Hydronephrosis Squared iliac bones Urethral obstruction Abnormality of the pituitary gland Limited neck flexion Abnormal muscle tone Hepatic necrosis Chronic hepatic failure Increased muscle lipid content Nocturnal hypoventilation Facial hirsutism Muscle fiber atrophy Weakness of facial musculature Female hypogonadism Vertical nystagmus Abnormal spermatogenesis Increased total bilirubin Frontal balding Hematemesis Melena First degree atrioventricular block Decreased glomerular filtration rate Chronic infection Impaired temperature sensation Abnormality of the urethra Intermittent episodes of respiratory insufficiency due to muscle weakness Lumbar scoliosis Abnormality of dental color Epigastric pain Abnormal chorioretinal morphology Urethral stricture High forehead Talipes Telecanthus Hypodontia Megakaryocyte dysplasia Abnormality of the curvature of the vertebral column Dysarthria Hypoplasia of the corpus callosum Edema Abnormality of the nervous system Nevus Congenital thrombocytopenia Overgrowth Dental crowding Pointed chin Reduced tendon reflexes Short metatarsal Growth abnormality Hypokalemia Bilateral camptodactyly Premature ovarian insufficiency Long nose U-Shaped upper lip vermilion Central hypothyroidism Clitoral hypoplasia Macular hypoplasia Gingivitis Giant platelets Prolonged QT interval Myotonia Abnormality of the anus Annular pancreas Hyperkalemia Loss of consciousness 2-3 toe syndactyly Internal hemorrhage Arteria lusoria Cachexia Ventricular arrhythmia Abnormality of the head Gait ataxia Constrictive pericarditis Pericardial constriction Cleft palate Abnormality of the skeletal system Short metacarpal Delayed skeletal maturation Joint laxity Absent frontal sinuses Blepharophimosis Bulbous nose Short palm Inability to walk Small hand Short foot Delayed eruption of teeth Hypoplastic frontal sinuses Fibroma Oligodontia Short phalanx of finger Nephroblastoma Bicuspid aortic valve Ventricular tachycardia Scapular winging Short chin Cardiac arrest Decreased body weight Weak voice Hypoplasia of dental enamel Palpitations Tetraparesis Short palpebral fissure Renal hypoplasia Microglossia Prominent superficial veins Long hallux Nasolacrimal duct obstruction Periodic hypokalemic paresis Delayed eruption of permanent teeth Premature birth Intestinal malrotation Webbed neck Dehydration Eczema Clinodactyly of the 5th toe Pachygyria Microcornea Amblyopia Persistence of primary teeth Short thumb Leukodystrophy Spina bifida Bone marrow hypocellularity Postural instability Single transverse palmar crease Multicystic kidney dysplasia Finger syndactyly Low-set, posteriorly rotated ears Camptodactyly Feeding difficulties in infancy Coloboma Attention deficit hyperactivity disorder Skin rash Leukemia Iris coloboma Neurological speech impairment Hip dislocation Narrow chest Hypoplasia of the maxilla Smooth philtrum Anal atresia Bruising susceptibility Horseshoe kidney Holoprosencephaly Broad columella Duodenal atresia Bipolar affective disorder Abnormal eyelash morphology Missing ribs Retinal dysplasia Chronic constipation Eyelid coloboma Hyperthyroidism Transposition of the great arteries Ectopic anus Mitral stenosis Broad hallux phalanx Nuclear cataract Aplasia/Hypoplasia of the earlobes Labial hypoplasia Abnormal thrombocyte morphology Wheezing Natal tooth Azoospermia Ectropion Abnormal palate morphology Infantile muscular hypotonia Schizophrenia Pyloric stenosis Hand polydactyly Trigonocephaly Chorioretinal coloboma Slender finger Hammertoe Flat occiput Aplasia/Hypoplasia of the eyebrow Hypoplastic left heart Atrioventricular canal defect Periodic paralysis Partial agenesis of the corpus callosum Pendular nystagmus Nephropathy Ketoacidosis Abnormal vertebral morphology Thick vermilion border Macroglossia Limitation of joint mobility Abnormality of the ribs Lumbar hyperlordosis Lower limb spasticity Short ribs Lower limb muscle weakness Elbow flexion contracture Congenital hip dislocation Knee flexion contracture Coxa valga Abnormality of dental enamel Opacification of the corneal stroma Widely spaced teeth Wide nose Genu valgum Arnold-Chiari malformation Arthralgia Gait disturbance Headache Pes cavus Glaucoma Skeletal dysplasia Coarse facial features Umbilical hernia Limb muscle weakness Joint stiffness Camptodactyly of finger Abnormal pyramidal sign Pectus carinatum Corneal opacity Platyspondyly Synophrys Abnormality of the metacarpal bones Increased intracranial pressure Follicular hyperplasia Flared iliac wings Hydrocele testis Communicating hydrocephalus Sparse axillary hair Broad ribs Sparse pubic hair Dilation of lateral ventricles Sagittal craniosynostosis Dysostosis multiplex Shield chest Nasal obstruction Myelopathy Abnormal cornea morphology Abnormal diaphysis morphology Carpal bone hypoplasia Platybasia Tracheal stenosis Abnormality of the ulna Coarse hair Hyperactive deep tendon reflexes Back pain Abnormality of dental morphology Toe walking Restrictive ventilatory defect Exertional dyspnea Arthropathy Spinal canal stenosis Hypoplastic iliac wing Rhinitis Protuberant abdomen Blepharitis Papilledema Obstructive sleep apnea Chronic sinusitis Spinal cord compression Burkitt lymphoma Generalized lymphadenopathy Abnormal nerve conduction velocity Full cheeks Midface retrusion Elevated serum creatine phosphokinase Proximal muscle weakness Hypertrophic cardiomyopathy Distal amyotrophy Broad nasal tip Epistaxis Skeletal muscle atrophy Progressive muscle weakness Progressive hearing impairment Ketosis Recurrent corneal erosions Skeletal myopathy Micronodular cirrhosis Periportal fibrosis Myopathy Myelokathexis Tetralogy of Fallot Periodontitis Meningitis Recurrent bacterial infections Leukocytosis Osteomyelitis Cellulitis IgG deficiency B-cell lymphoma Bone marrow hypercellularity Atelectasis Abnormality of female internal genitalia Abnormality of bone marrow cell morphology Folliculitis Septic arthritis Tonsillitis Hypersegmentation of neutrophil nuclei Ketotic hypoglycemia Hemiparesis Interstitial pneumonitis Fatigable weakness Abnormal intestine morphology Inflammation of the large intestine Interstitial pulmonary abnormality Colitis Autoimmune hemolytic anemia IgA deficiency Exocrine pancreatic insufficiency Conjunctivitis Chronic lung disease Clubbing of fingers Villous atrophy Brain neoplasm Immune dysregulation IgM deficiency Gastritis Purpura Type I diabetes mellitus Polycythemia Abnormal nasal morphology Underdeveloped supraorbital ridges Poor appetite Truncus arteriosus Pulmonary artery atresia Breathing dysregulation Interrupted aortic arch Endocarditis Abnormal lung morphology Overriding aorta Pulmonary valve atresia Tetralogy of Fallot with absent pulmonary valve Absence of the pulmonary valve Autoimmunity Hemolytic anemia Inflammatory abnormality of the skin Wide cranial sutures Corneal crystals Broad foot Hypercholesterolemia Nephrocalcinosis Absence seizures Accelerated skeletal maturation Macular degeneration Atherosclerosis Pancreatitis Cone/cone-rod dystrophy Horizontal nystagmus Goiter Polycystic ovaries Abnormality of the hand Cholelithiasis Elevated alkaline phosphatase Precocious puberty Hyperinsulinemia Hypogonadotrophic hypogonadism Recurrent pneumonia Portal hypertension Decreased testicular size Retinal dystrophy Hepatic steatosis Vesicoureteral reflux Urinary incontinence Round face Gastrointestinal hemorrhage Hepatitis Hypergonadotropic hypogonadism Optic disc pallor Pulmonary arterial hypertension Involuntary movements Left ventricular hypertrophy Anorexia Hyperpigmentation of the skin Gynecomastia Lipodystrophy Polydipsia Stage 5 chronic kidney disease Subcapsular cataract Progressive sensorineural hearing impairment Glomerulopathy Glycosuria Bronchitis Hyperuricemia Increased number of teeth Thoracic scoliosis Polyphagia Severe sensorineural hearing impairment Hypoventilation Retinal atrophy Alopecia of scalp Poor coordination Oligomenorrhea Posterior subcapsular cataract Short finger Chorioretinal atrophy Nephritis Hyperglycemia Obsessive-compulsive behavior Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Impaired vibratory sensation Acne Hyperostosis Diabetes insipidus Pericardial effusion Glucose intolerance Polyuria Emphysema Hydroureter Urinary urgency Truncal obesity Abnormal retinal morphology Nausea Dry skin Abnormality of the radius Abnormality of the skull base Dilated third ventricle Abnormality of the breast Small abnormally formed scapulae Short tubular bones of the hand Abnormality of lysosomal metabolism Posterior scalloping of vertebral bodies Abnormality of the sella turcica Abnormality of the tonsils Abnormal metaphyseal trabeculation Abnormality of femoral epiphysis Anterior scalloping of vertebral bodies Abnormality of cranial sutures Abnormality of the glenoid fossa Abnormality of the lumbar spine Abnormality of glycosaminoglycan metabolism Exercise-induced muscle stiffness Limited shoulder movement Increased size of nasopharyngeal adenoids Delayed menarche Aortic valve calcification Abnormality of the gingiva Hip subluxation Mitral valve calcification Heparan sulfate excretion in urine Hernia of the abdominal wall Urinary glycosaminoglycan excretion Abnormality of mucopolysaccharide metabolism Cervical instability Frontal hirsutism Optic nerve compression Progressive flexion contractures Thickened ribs Dermatan sulfate excretion in urine Abnormality of the acetabulum Widely patent coronal suture Contractures of the joints of the upper limbs Ophthalmoplegia Abnormality of the kidney Weight loss Autism Gastroesophageal reflux Jaundice Photophobia Proteinuria Irritability Hyperhidrosis Pallor Autistic behavior Sparse hair Cough Dilated cardiomyopathy Generalized tonic-clonic seizures Hypotrichosis Polydactyly Myoclonus Abnormality of the styloid process of ulna Blindness Abnormality of the humeral epiphysis Nystagmus Delayed speech and language development Hypertension Peripheral neuropathy Fatigue Vomiting Rod-cone dystrophy Dystonia Renal insufficiency Dilatation Encephalopathy Visual loss Hyporeflexia Alopecia Absent muscle fiber merosin



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