Cardiomyopathy, and Sinusitis

Diseases related with Cardiomyopathy and Sinusitis

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


Top matches:

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

Low match BLOOM SYNDROME


Bloom syndrome (BSyn) is a rare chromosomal breakage syndrome characterized by a marked genetic instability associated with pre- and postnatal growth retardation, facial sun-sensitive telangiectatic erythema, increased susceptibility to infections, and predisposition to cancer.

BLOOM SYNDROME Is also known as bls|microcephaly, growth restriction, and increased sister chromatid exchange 1|bs|bsyn|mgrisce1

Related symptoms:

  • Short stature
  • Microcephaly
  • Growth delay
  • Neoplasm
  • Failure to thrive


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BLOOM SYNDROME

Low 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

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Other less relevant matches:

Low 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

Low match GRANULOMATOSIS WITH POLYANGIITIS


Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

Low 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

Low 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

Low match ANDERSEN-TAWIL SYNDROME


Andersen's syndrome (AS) is a rare disorder characterized by periodic muscle paralysis, prolongation of the QT interval with a variety of ventricular arrhythmias (leading to predisposition to sudden cardiac death) and characteristic physical features: short stature, scoliosis, low-set ears, hypertelorism, broad nasal root, micrognathia, clinodactyly, brachydactyly and syndactyly.

ANDERSEN-TAWIL SYNDROME Is also known as andersen syndrome|long qt syndrome type 7|lqt7

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ANDERSEN-TAWIL 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 ASPARTYLGLUCOSAMINURIA; AGU


Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Sinusitis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Otitis media Cardiomegaly Recurrent respiratory infections Cognitive impairment Hepatosplenomegaly Global developmental delay Depressed nasal bridge Growth delay Hearing impairment Generalized hypotonia Splenomegaly Dolichocephaly Muscular hypotonia Motor delay Scoliosis Pneumonia Abnormality of the dentition Pulmonary fibrosis Hypertelorism Depressivity Anteverted nares Congestive heart failure Intellectual disability, mild Thin upper lip vermilion Immunodeficiency Failure to thrive Myalgia Behavioral abnormality Intrauterine growth retardation Diarrhea Sensorineural hearing impairment Syndactyly Recurrent infections Wide nose Clinodactyly of the 5th finger Visual impairment Type II diabetes mellitus Severe short stature Kyphosis Diabetes mellitus Specific learning disability Postnatal growth retardation Malar flattening Nyctalopia Infertility Ascites Micrognathia Microcephaly Respiratory insufficiency Short neck Retinopathy Clinodactyly Cirrhosis Hypogonadism Edema Chronic otitis media Fatigue Carious teeth Chronic obstructive pulmonary disease Pericarditis Recurrent otitis media Pain Constipation Arrhythmia Abdominal pain Visual loss

Rare Symptoms - Less than 30% cases


Arthralgia Dyspnea Proptosis Weight loss Multiple joint contractures Hydronephrosis Proteinuria Dilated cardiomyopathy Renal insufficiency Headache Vomiting Torsade de pointes Prolonged QT interval Abnormality of dental color Long philtrum Lymphadenopathy Tachycardia Retinal dystrophy Brachydactyly Short metacarpal Reduced tendon reflexes Short toe Meningitis Recurrent pneumonia Peripheral neuropathy Tachypnea Pleural effusion Triangular face Short digit Nephropathy Broad forehead Joint laxity Frontal balding Bronchitis Hypertension Cough Hyperkeratosis Gastrointestinal hemorrhage Involuntary movements Peripheral visual field loss Insulin-resistant diabetes mellitus Dysostosis multiplex Short finger Peripheral edema Acne Abnormality of the optic disc J-shaped sella turcica Acanthosis nigricans Increased body weight Insulin resistance Chronic diarrhea Epidermal acanthosis Generalized hirsutism Pigmentary retinopathy Cyanosis Ataxia Nystagmus Strabismus Cataract Feeding difficulties Delayed speech and language development Blindness Growth hormone deficiency Abdominal distention Myoclonus Delayed puberty Widely spaced teeth Myocardial fibrosis Hoarse voice Kyphoscoliosis Pancreatitis Diabetes insipidus Restrictive ventilatory defect Glomerulopathy Tracheal stenosis Nasal obstruction Elevated C-reactive protein level First degree atrioventricular block Macrocephaly Gait disturbance Hernia Inguinal hernia Obsessive-compulsive behavior Retrognathia Abnormality of retinal pigmentation Coarse facial features Conductive hearing impairment Platyspondyly Hypermetropia Limb muscle weakness Astigmatism Retinal degeneration Hirsutism Sleep disturbance Macroglossia Asthma Progressive visual loss Thickened skin 2-3 toe syndactyly Respiratory distress Skin rash Overgrowth Hypertrophic cardiomyopathy Abnormality of the liver Toe syndactyly Scarring Neoplasm Thin vermilion border Hepatic failure Autistic behavior Gastroesophageal reflux Hypothyroidism Autism Abnormality of the face Broad nasal tip Sudden cardiac death Patent ductus arteriosus Encephalopathy Ventricular septal defect Epistaxis Wide nasal bridge Low-set ears Recurrent corneal erosions Abnormality of the nose Hypoplastic frontal sinuses Hypertriglyceridemia Hepatic fibrosis High pitched voice Hyperlipidemia Hypoplasia of the maxilla Decreased liver function Hyperhidrosis Elevated serum creatine phosphokinase Erythema Decreased antibody level in blood Polydactyly Syncope Abnormality of dental enamel Cardiac arrest Delayed skeletal maturation Obesity Ventricular arrhythmia Myopathy Hypoplasia of dental enamel Hypoglycemia Pulmonary arterial hypertension Deeply set eye Microdontia Elevated hepatic transaminase Round face Ventricular tachycardia Oligomenorrhea Posterior subcapsular cataract Retinal pigment epithelial atrophy Abnormality of the ovary Broad foot Ketoacidosis Gingivitis Poor coordination Vacuolated lymphocytes Abnormal left ventricle morphology Hyperventilation Visceromegaly Alopecia of scalp Retinal atrophy Pendular nystagmus Hypoventilation Severe sensorineural hearing impairment Autoimmune thrombocytopenia Thoracic scoliosis Subcapsular cataract Testicular atrophy Increased number of teeth Hyperuricemia Abnormal renal physiology Pathologic fracture Tubulointerstitial nephritis Restrictive cardiomyopathy Endocardial fibroelastosis Abnormal renal morphology Palpebral edema Thickened calvaria Menstrual irregularities Decreased HDL cholesterol concentration Ovarian cyst Muscle fibrillation Glycosuria Macroorchidism High-frequency hearing impairment Esophageal varix Attenuation of retinal blood vessels Disinhibition Chronic fatigue Broad face Spondylolisthesis Male hypogonadism Oligospermia Myocarditis Tubular atrophy Recurrent bronchitis Acute hepatic failure Elevated serum creatinine Right ventricular hypertrophy Beaking of vertebral bodies Prominent frontal sinuses Progressive sensorineural hearing impairment Hepatitis Absence seizures Nephrocalcinosis Hypogonadotrophic hypogonadism Cranial asymmetry Horizontal nystagmus Hypergonadotropic hypogonadism Gynecomastia Hyperpigmentation of the skin Anorexia Angiokeratoma Left ventricular hypertrophy Recurrent urinary tract infections Optic disc pallor Methemoglobinemia Macular degeneration Angiokeratoma corporis diffusum Decreased testicular size Urinary incontinence Vesicoureteral reflux Spondylolysis Oligosacchariduria Hepatic steatosis Nausea Stage 5 chronic kidney disease Dry skin Angiofibromas Pulmonic stenosis Ophthalmoplegia Hypotrichosis Accelerated skeletal maturation Atherosclerosis Agenesis of permanent teeth Impaired vibratory sensation Polyphagia Chorioretinal atrophy Pericardial effusion Abnormal retinal morphology Truncal obesity Urinary urgency Hydroureter Emphysema Polyuria Glucose intolerance Hyperglycemia Hyperostosis Facial edema Constriction of peripheral visual field Hypercholesterolemia Emotional lability Adenoma sebaceum Nephritis Polydipsia Portal hypertension Lipodystrophy Hyperinsulinemia Precocious puberty Elevated alkaline phosphatase Cholelithiasis Abnormality of the hand Polycystic ovaries Goiter Cone/cone-rod dystrophy Aplasia/Hypoplasia of the cerebellum Gingival overgrowth Tubulointerstitial fibrosis Cachexia Microglossia Scaphocephaly Slender long bone Nephroblastoma Premature ovarian insufficiency Vitreous haze Pointed chin Weak voice Abnormality of the femoral head Cleft palate Dental crowding Bulbous nose Short palm High, narrow palate Prominent superficial veins Fibroma Febrile seizures Precocious puberty in females Unilateral breast hypoplasia Glue ear Hyperreflexia Recurrent cystitis Widely-spaced incisors Abnormal retinal artery morphology Spasticity Absent frontal sinuses EEG with occipital slowing Pericardial constriction Abnormality of prothrombin Abnormality of renal calyx morphology Constrictive pericarditis Localized hirsutism Small hand Palpitations Dilatation of the bladder Clinodactyly of the 5th toe Abnormal atrioventricular conduction Frontal bossing Abnormal T-wave Periodic paralysis Dysarthria Delayed eruption of permanent teeth Short mandibular rami Left bundle branch block Periodic hypokalemic paresis Effort-induced polymorphic ventricular tachycardias Muscle fiber tubular inclusions High palate Antegonial notching of mandible Aplasia/Hypoplasia of the maxilla T-wave inversion Ventricular extrasystoles Short phalanx of finger Small for gestational age Bilateral single transverse palmar creases Nevus Scapular winging Abnormal palate morphology Hypodontia Oligodontia Growth abnormality Ventriculomegaly Short metatarsal Myotonia Intellectual disability, moderate Abnormality of the nervous system Right bundle branch block Hypoplasia of the corpus callosum Abnormality of the skeletal system Thickened ears Arteriosclerosis Increased total bilirubin Gliosis Generalized myoclonic seizures Neutropenia Multinodular goiter Bull's eye maculopathy Vertical nystagmus Hematemesis Psychosis Melena Wide mouth Decreased glomerular filtration rate Abnormal spermatogenesis Chronic infection Abnormality of the urethra Neuronal loss in central nervous system Thick lower lip vermilion Epigastric pain Acute pancreatitis Intellectual disability, progressive Urinary retention Poor fine motor coordination Pyelonephritis Chills Aspiration Hydrops fetalis Progressive neurologic deterioration Achromatopsia Urethral stenosis Bidirectional ventricular ectopy Mitral regurgitation Hepatic encephalopathy Abnormality of female external genitalia Lumbar scoliosis Abnormal chorioretinal morphology Granular macular appearance Exudative retinopathy Brachycephaly Multifocal atrial tachycardia Childhood-onset truncal obesity Abnormality of metabolism/homeostasis High-frequency sensorineural hearing impairment Increased circulating androgen level Nonproductive cough ST segment depression Cerebral atrophy Abnormal adipose tissue morphology Chronic active hepatitis Hyperostosis frontalis interna Intellectual disability, severe Receptive language delay Hyperactivity Facial hirsutism Urethral stricture Renovascular hypertension Impaired temperature sensation Developmental regression Female hypogonadism Mental deterioration Abnormal muscle tone Albuminuria Squared iliac bones Gait ataxia High forehead Urethral obstruction Abnormality of the pituitary gland Hypoplastic male external genitalia Hepatic necrosis Chronic hepatic failure Generalized tonic-clonic seizures Abnormal heart valve morphology Sparse hair Eosinophilia Single transverse palmar crease Premature birth Underdeveloped nasal alae Eczema Finger clinodactyly Narrow palpebral fissure Spondyloepiphyseal dysplasia Agenesis of corpus callosum Partial agenesis of the corpus callosum Long palpebral fissure Hip contracture Irregular vertebral endplates Narrow nose Pulmonary edema Downturned corners of mouth Downslanted palpebral fissures Prominent eyelashes Protruding tongue Optic nerve hypoplasia Atrioventricular block Patent foramen ovale Ventricular fibrillation Mixed hearing impairment Cutaneous finger syndactyly Amelogenesis imperfecta Abnormal direction of ventricular apex Hypothermia Perimembranous ventricular septal defect Cutaneous syndactyly of toes Biventricular hypertrophy T-wave alternans Atrioventricular dissociation Humoral immunodeficiency Noncompaction cardiomyopathy Hypocalcemia Intestinal obstruction Purpura Cranial nerve paralysis Venous thrombosis Hemiplegia Glomerulonephritis Stridor Petechiae Vasculitis Elevated erythrocyte sedimentation rate Wheezing Hemoptysis Pulmonary infiltrates Gangrene Myositis Conjunctivitis Skin ulcer Irregular femoral epiphysis Papule Biconvex vertebral bodies Fever Arthritis Paralysis Autoimmunity Stroke Nausea and vomiting Diplopia Paresthesia Hematuria Sensory neuropathy Chest pain Myocardial infarction Subcutaneous nodule Cutaneous syndactyly Bradycardia Concave nasal ridge Prominent nose Short nose Protruding ear Finger syndactyly Leukemia Ichthyosis Lymphoma Abnormality of the skin Cryptorchidism Cutaneous photosensitivity Hypertrichosis Bronchiectasis Telangiectasia Cafe-au-lait spot Narrow face Anemia Ketotic hypoglycemia Sacral dimple Full cheeks Muscle weakness Skeletal muscle atrophy Midface retrusion Proximal muscle weakness Carcinoma Distal amyotrophy Ventricular hypertrophy Periportal fibrosis Progressive muscle weakness Progressive hearing impairment Recurrent sinusitis Ketosis Skeletal myopathy Micronodular cirrhosis Azoospermia Hypopigmented skin patches Tetralogy of Fallot Abnormality of cardiovascular system morphology Spotty hyperpigmentation Neoplasm of the gastrointestinal tract Agenesis of maxillary lateral incisor Facial telangiectasia in butterfly midface distribution Myopia Dysphagia Abnormal heart morphology Female infertility Prominent forehead Abnormal cardiac septum morphology Hip dislocation Joint hypermobility Coma Esotropia Spotty hypopigmentation Decreased fertility in females Reduced number of teeth Hodgkin lymphoma Hand polydactyly Squamous cell carcinoma Telangiectasia of the skin Myeloid leukemia Acute myeloid leukemia IgA deficiency IgG deficiency Abnormality of chromosome stability Acute leukemia Hypoplasia of the zygomatic bone Chromosome breakage Hypoplastic pelvis Chronic lung disease IgM deficiency Angina pectoris Cerebral ischemia Pallor Cervical instability Hip subluxation Mitral valve calcification Heparan sulfate excretion in urine Hernia of the abdominal wall Delayed menarche Urinary glycosaminoglycan excretion Frontal hirsutism Aortic valve calcification Optic nerve compression Progressive flexion contractures Thickened ribs Dermatan sulfate excretion in urine Abnormality of the acetabulum Abnormality of mucopolysaccharide metabolism Abnormality of the gingiva Abnormality of the radius Abnormality of the tonsils Shield chest Broad ribs Sparse pubic hair Dilation of lateral ventricles Cor pulmonale Flared iliac wings Sagittal craniosynostosis Myelopathy Corneal crystals Abnormal cornea morphology Abnormal diaphysis morphology Carpal bone hypoplasia Platybasia Wide cranial sutures Abnormal nerve conduction velocity Limited shoulder movement Exercise-induced muscle stiffness Communicating hydrocephalus Rod-cone dystrophy Abnormality of the humeral epiphysis Optic atrophy Dystonia Dilatation Hyporeflexia Alopecia Respiratory failure Contractures of the joints of the upper limbs Pes planus Jaundice Photophobia Abnormality of the kidney Irritability Respiratory tract infection Abnormality of the styloid process of ulna Increased size of nasopharyngeal adenoids Dilated third ventricle Abnormality of the sella turcica 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 skull base Abnormal metaphyseal trabeculation Widely patent coronal suture 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 Sparse axillary hair Hydrocele testis Abnormality of the hypothalamus-pituitary axis Camptodactyly of finger Glaucoma Osteopenia Skeletal dysplasia Umbilical hernia Joint stiffness Craniosynostosis Abnormal pyramidal sign Prostatitis Pectus carinatum Corneal opacity Synophrys Genu valgum Lower limb muscle weakness Thick vermilion border Pes cavus Recurrent intrapulmonary hemorrhage Hip dysplasia Granulomatosis Inflammatory abnormality of the eye Periorbital edema Rhinorrhea Ocular pain Subglottic stenosis Pleuritis Neuritis Scleritis Endocarditis Ureteral stenosis Abnormal oral cavity morphology Episcleritis Arteritis Increased inflammatory response Limitation of joint mobility Abnormality of the ribs Abnormality of the ulna Protuberant abdomen Toe walking Exertional dyspnea Arthropathy Hyperactive deep tendon reflexes Spinal canal stenosis Rhinitis Blepharitis Heart murmur Papilledema Obstructive sleep apnea Chronic sinusitis Spinal cord compression Diastasis recti Hypoplastic iliac wing Abnormality of dental morphology Back pain Lumbar hyperlordosis Congenital hip dislocation Abnormal form of the vertebral bodies Lower limb spasticity Abnormal vertebral morphology Aortic valve stenosis Short ribs Elbow flexion contracture Knee flexion contracture Coarse hair Coxa valga Opacification of the corneal stroma Abnormality of the metacarpal bones Arnold-Chiari malformation Increased intracranial pressure Easy fatigability Aspartylglucosaminuria



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