Congestive heart failure, and Bruising susceptibility

Diseases related with Congestive heart failure and Bruising susceptibility

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


Top matches:

High match OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16


Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).

OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16 Is also known as oi, type xvi

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hepatomegaly
  • Congestive heart failure
  • Constipation


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16

High match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

High match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE


Ehlers-Danlos syndrome, kyphoscoliotic type (EDKT) is a form of Ehlers-Danlos syndrome characterized by severe hypotonia and kyphoscoliosis at birth, generalized joint hyperextensibility and ocular globe fragility.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE Is also known as eds vi|eds6|ehlers-danlos syndrome, oculoscoliotic type|ehlers-danlos syndrome, ocular-scoliotic type|eds, oculoscoliotic type|eds6a, formerly|nevo syndrome|eds via|ehlers-danlos syndrome, type vi|ehlers-danlos syndrome, type via, formerly|eds, kyphoscoli

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Cryptorchidism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC TYPE

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

High match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

High match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

High match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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 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

Medium match HEREDITARY HEMORRHAGIC TELANGIECTASIA


Rendu-Osler-Weber disease, also called hereditary hemorrhagic telangiectasia (HHT), is a disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.

HEREDITARY HEMORRHAGIC TELANGIECTASIA Is also known as hht|rendu-osler disease|rendu-osler-weber disease

Related symptoms:

  • Seizures
  • Congestive heart failure
  • Cirrhosis
  • Hepatic failure
  • Hematuria


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY HEMORRHAGIC TELANGIECTASIA

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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Bruising susceptibility

Symptoms // Phenotype % cases
Growth delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Thrombocytopenia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Myopia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cryptorchidism Abnormality of cardiovascular system morphology Epicanthus Seizures Strabismus Global developmental delay Failure to thrive Osteopenia Abnormal bleeding Cataract Abnormality of skin pigmentation Hearing impairment Abnormal cardiac septum morphology Abnormal heart morphology Atrial septal defect Ptosis Neoplasm Micrognathia Splenomegaly Low-set ears Depressed nasal bridge Hypertelorism Intellectual disability Hernia Pectus excavatum Dolichocephaly Pancytopenia Hypothyroidism Leukemia Edema Hepatomegaly Constipation High palate Small for gestational age Dilatation Feeding difficulties Downslanted palpebral fissures Ventricular septal defect Visual impairment Patent ductus arteriosus Hypogonadism Hypertrophic cardiomyopathy Proptosis Generalized hypotonia Low-set, posteriorly rotated ears Postnatal growth retardation Intrauterine growth retardation Facial asymmetry Webbed neck Coarctation of aorta Abnormal facial shape Microcephaly Muscular hypotonia Joint hypermobility Ataxia Heart murmur Anemia Spina bifida Recurrent respiratory infections Abnormality of the eye Neurological speech impairment Abdominal distention Nystagmus Blue sclerae Pes planus Osteoporosis Prominent forehead Inguinal hernia Kyphosis Azoospermia Amblyopia Short neck Gastrointestinal hemorrhage Clinodactyly of the 5th finger Frontal bossing Ventriculomegaly Blindness Abnormality of the cardiovascular system Hydrocephalus Hyperextensible skin Cardiomyopathy

Rare Symptoms - Less than 30% cases


Optic atrophy Epistaxis Decreased body weight Oculomotor apraxia Leukopenia Reduced bone mineral density Myelodysplasia Cholelithiasis Neutropenia Portal hypertension Clubbing Leukocytosis Cavernous hemangioma Anal atresia Interstitial pulmonary abnormality Bipolar affective disorder Toe syndactyly Hip dislocation Arteriovenous malformation Abnormality of the ulna Astigmatism Cirrhosis Hematuria Feeding difficulties in infancy Immunodeficiency Type I diabetes mellitus Horseshoe kidney Abnormal aortic valve morphology Bone marrow hypocellularity Abnormality of the testis Spasticity Cognitive impairment Telecanthus Fatigue Diarrhea Macrocephaly Finger syndactyly Depressivity Short thumb Delayed skeletal maturation Cafe-au-lait spot Abdominal pain Hepatosplenomegaly EEG abnormality Arthritis Respiratory tract infection Lymphoma Lymphadenopathy Abnormal myocardium morphology Anteverted nares Spontaneous hematomas Abnormal palate morphology Premature birth Polyhydramnios Gastroesophageal reflux Growth hormone deficiency Inflammatory abnormality of the skin Sparse hair Multiple lentigines Decreased antibody level in blood Hypotrichosis Pulmonic stenosis High, narrow palate Posteriorly rotated ears Dental malocclusion Arnold-Chiari type I malformation Aplasia/Hypoplasia of the eyebrow Abnormality of blood and blood-forming tissues Low posterior hairline Neurofibromas Lymphedema Cubitus valgus Poor suck Ectropion Intestinal malrotation Abnormality of vision Abnormal eyelash morphology Cerebral atrophy Puberty and gonadal disorders Failure to thrive in infancy Irritability Abnormality of the dentition Behavioral abnormality Short nose Abnormality of the kidney Long philtrum Multiple cafe-au-lait spots Umbilical hernia Diabetes mellitus Clinodactyly Hydroureter Sensorineural hearing impairment High forehead Hypospadias Microphthalmia Brachydactyly Fever Hydronephrosis Vomiting Intellectual disability, mild Headache Recurrent infections Pulmonary arterial hypertension Otitis media Cutis laxa Oligohydramnios Renal insufficiency Scarring Retinopathy Skin rash Microcornea Single transverse palmar crease Pruritus Joint hyperflexibility Postural instability Talipes Pectus carinatum Mitral valve prolapse Kyphoscoliosis Redundant skin Vertebral compression fractures Excessive wrinkled skin Restrictive cardiomyopathy Abnormal thrombocyte morphology Abnormal mitral valve morphology Abnormality of the cerebral vasculature Mitral stenosis Drusen Telangiectasia of the skin Intracranial hemorrhage Vascular calcification Flexion contracture Motor delay Talipes equinovarus Respiratory distress Abnormality of the thorax Fractures of the long bones Myocardial infarction Soft skin Insulin resistance Slender finger Neoplasm of head and neck Abnormality of the genitourinary system Sleep apnea Hemangioma Aplasia/Hypoplasia of the corpus callosum Respiratory failure Sparse eyelashes Autoimmunity Narrow palate Abnormality of the nail Deficient excision of UV-induced pyrimidine dimers in DNA Follicular hyperplasia Aspiration Hyperpigmentation of the skin Cerebral visual impairment Delayed gross motor development Thickened skin Open mouth Hemolytic anemia Hemiparesis Asthma Fine hair Cardiomegaly Narrow forehead Aplasia/Hypoplasia of the uvula Progressive visual loss Recurrent otitis media Abnormal lung morphology Pneumonia Retinal telangiectasia Vesicoureteral reflux Conjunctival telangiectasia Open bite Decreased fertility in males Large for gestational age Absent eyebrow Chromosomal breakage induced by crosslinking agents Hypoplastic anemia Absent testis Compensated hypothyroidism Obsessive-compulsive behavior Almond-shaped palpebral fissure Abnormal carotid artery morphology Chronic otitis media Melanocytic nevus Cholecystitis Optic nerve hypoplasia Pleural effusion Abnormality of cardiovascular system physiology Scaling skin Peripheral arteriovenous fistula Mucosal telangiectasiae Sparse eyebrow Bilateral ptosis Brittle hair Prolonged G2 phase of cell cycle Anemic pallor Deep philtrum Relative macrocephaly Palmoplantar hyperkeratosis Bronchiectasis Aplasia/Hypoplasia of fingers Nevus Autoimmune thrombocytopenia Abnormality of the cerebral white matter Nail dystrophy Erythema Immune dysregulation Recurrent sinusitis Dysphagia IgA deficiency Cor pulmonale Intellectual disability, severe Verrucae Hypertonia Fatigable weakness Aggressive behavior Genu valgum Brain neoplasm Coarse facial features Exocrine pancreatic insufficiency Macrotia Chronic lung disease Autism Villous atrophy Hyperkeratosis Cerebral cortical atrophy Hyperhidrosis Alopecia Encephalopathy Clubbing of fingers Hypermetropia Dry skin Malar flattening Inflammation of the large intestine Full cheeks Pyridoxine-responsive sideroblastic anemia Abnormality of the preputium Chronic diarrhea Conjunctivitis Palmoplantar keratoderma Sleep disturbance Purpura Hepatic steatosis Abnormal intestine morphology Thick vermilion border Recurrent upper respiratory tract infections Generalized lymphadenopathy Retinal dystrophy Ichthyosis Malnutrition Delayed speech and language development Combined immunodeficiency Bulbous nose Colitis Autoimmune hemolytic anemia Dysarthria Interstitial pneumonitis Falls Gastritis Long face IgM deficiency Peripheral axonal neuropathy Visceral angiomatosis Subarachnoid hemorrhage Intestinal polyposis Partial agenesis of the corpus callosum Functional abnormality of the gastrointestinal tract Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Natal tooth Abnormal location of ears Atrioventricular canal defect Partial duplication of thumb phalanx Hypoplastic left heart Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Inappropriate crying Flat occiput Abnormality of the auditory canal Laryngeal cleft Generalized ichthyosis Chorioretinal coloboma Endocarditis Retinal dysplasia Diastasis recti Increased nuchal translucency Missing ribs Double outlet right ventricle Wheezing Frontal balding Hypoplasia of the frontal lobes Anterior creases of earlobe Abnormality of the optic disc Abnormal tricuspid valve morphology Patchy alopecia Optic nerve dysplasia Transposition of the great arteries Hammertoe Trigonocephaly Chronic constipation Intellectual disability, moderate Dehydration Microdontia Agenesis of corpus callosum Retrognathia Thin upper lip vermilion Hypoglycemia Camptodactyly Wide nasal bridge Craniosynostosis Coloboma Attention deficit hyperactivity disorder Narrow chest Smooth philtrum Tachycardia Syndactyly Eczema Multiple palmar creases Infantile muscular hypotonia Hand polydactyly Eyelid fasciculation Multiple plantar creases Pyloric stenosis Oral aversion Schizophrenia Tachypnea Abnormal form of the vertebral bodies Holoprosencephaly Multicystic kidney dysplasia Aortic valve stenosis Leukodystrophy Short toe Sinusitis Pachygyria Sparse or absent eyelashes Abnormality of hair texture Esophageal varix Macular hypoplasia Arteria lusoria Internal hemorrhage Annular pancreas Abnormality of the anus Toe clinodactyly Giant platelets Clitoral hypoplasia Long palpebral fissure Central hypothyroidism U-Shaped upper lip vermilion Urethral stenosis Long hallux Abnormality of the head Abnormal heart valve morphology Bilateral camptodactyly Congenital thrombocytopenia Broad columella Abnormality of the sternum Neurodevelopmental delay Transient ischemic attack Infantile spasms Iris coloboma Pulmonary embolism Hemoptysis Microcytic anemia Megakaryocyte dysplasia Cerebral hemorrhage Venous thrombosis Nephrolithiasis Migraine Hepatic failure Abnormality of the curvature of the vertebral column Nasolacrimal duct obstruction Labial hypoplasia Abnormality of the pulmonary artery Delayed CNS myelination Duodenal atresia Thick upper lip vermilion Abnormal hair pattern Dystrophic fingernails Abnormality of the optic nerve Eyelid coloboma Abnormality of refraction Short attention span Deep palmar crease Gastrointestinal dysmotility Slow-growing hair Thickened helices Subvalvular aortic stenosis Hyperextensibility of the finger joints Woolly hair Abnormality of the gastrointestinal tract Aplasia/Hypoplasia of the earlobes Anal stenosis Nuclear cataract Biparietal narrowing Curly hair Generalized hyperpigmentation Submucous cleft hard palate Broad hallux phalanx Underdeveloped supraorbital ridges Premature skin wrinkling Poor appetite Atopic dermatitis Alopecia of scalp Enlarged kidney Ectopic anus Absent eyelashes Hypoplasia of the zygomatic bone Clubbing of toes Juvenile myelomonocytic leukemia Complete duplication of thumb phalanx Spina bifida occulta Tall stature Joint contracture of the hand Recurrent pneumonia Increased body weight Hyperbilirubinemia Joint dislocation Torticollis Thin skin Aortic regurgitation Corneal dystrophy Aortic aneurysm Disproportionate tall stature Atrophic scars Abnormality of the hip bone Dental crowding High myopia Aortic root aneurysm Hyperlordosis Respiratory insufficiency Myopathy Abnormality of metabolism/homeostasis Glaucoma Neonatal hypotonia Joint laxity Arachnodactyly Decreased fetal movement Unsteady gait Retinal detachment Polyneuropathy Generalized muscle weakness Sepsis Esotropia Overgrowth Keratoconus Atypical scarring of skin Muscle weakness Ascites Myoclonus Dyspnea Proteinuria Corneal opacity Delayed puberty Abnormality of eye movement Generalized myoclonic seizures Arrhythmia Parkinsonism Syncope Cyanosis Apraxia Progressive neurologic deterioration Osteoarthritis Dementia Progressive congenital scoliosis Aortic dissection Dural ectasia Generalized joint laxity Bladder diverticulum Subcutaneous hemorrhage Lens luxation Thoracic kyphoscoliosis Keloids Arterial dissection Spontaneous rupture of the globe Palmoplantar cutis laxa Premature rupture of membranes Wrist drop Moderate myopia Decreased pulmonary function Arterial rupture Molluscoid pseudotumors Gait disturbance Medial calcification of small arteries Hepatic fibrosis Ischemic stroke Cerebral calcification Mitral regurgitation Subcutaneous nodule Nephrocalcinosis Macular degeneration Atherosclerosis Acne Sudden cardiac death Tricuspid regurgitation Hemiplegia/hemiparesis Cutis marmorata Coronary artery atherosclerosis Hypermelanotic macule Abnormal retinal morphology Abnormality of the skin Papule Multiple lipomas Reduced number of teeth Skeletal dysplasia Conductive hearing impairment Micromelia Recurrent fractures Wormian bones Spontaneous abortion Prolonged bleeding time Stroke Agenesis of permanent teeth Thin ribs Dentinogenesis imperfecta Beaded ribs Hypertension Visual loss Reduced visual acuity Chorioretinal atrophy Striae distensae Abnormal atrioventricular valve morphology Localized skin lesion Abnormality of connective tissue Civatte bodies Accelerated atherosclerosis Subcutaneous calcification Arterial calcification Hyperkeratotic papule Generalized arterial calcification Metamorphopsia Medial calcification of large arteries Peripapillary chorioretinal atrophy Peau d'orange Subretinal fluid Erythematous papule Premature occlusive vascular stenosis Medial calcification of medium-sized arteries Renovascular hypertension Angioid streaks of the fundus Severe vision loss Redundant neck skin Severe intrauterine growth retardation Abnormality of the mouth Thickened nuchal skin fold Peripheral arterial stenosis Angina pectoris Lack of skin elasticity Pulmonary edema Intermittent claudication Arterial stenosis Arteriosclerosis Pulmonary insufficiency Ectopic calcification Choroidal neovascularization Abnormal endocardium morphology Retinal hemorrhage Anorexia Bone pain Aplasia/Hypoplasia of the iris Aganglionic megacolon Renal agenesis Tetralogy of Fallot Sloping forehead Short palpebral fissure Choanal atresia Abnormality of the genital system Recurrent urinary tract infections Vertigo Telangiectasia Abnormal vertebral morphology Hypergonadotropic hypogonadism Cranial nerve paralysis Renal hypoplasia/aplasia Hypopigmented skin patches Hypopigmentation of the skin Abnormality of the foot Hyperinsulinemia Preductal coarctation of the aorta Panuveitis Loose anagen hair Pectus excavatum of inferior sternum Gonadal neoplasm Reduced factor XIII activity Nasogastric tube feeding Postductal coarctation of the aorta Abnormality of the liver Cleft palate Hyperreflexia Abnormality of the skeletal system Severe short stature Upslanted palpebral fissure Weight loss Carcinoma Abnormality of the urinary system Triphalangeal thumb Reduced factor XII activity Abnormality of chromosome stability Bicornuate uterus Abnormality of femur morphology Acute monocytic leukemia Abnormality of the hypothalamus-pituitary axis Abnormal renal morphology Abnormal localization of kidney Reticulocytopenia Abnormality of the uterus Abnormal aortic morphology Abnormality of nervous system morphology Primary hypothyroidism Duodenal stenosis Duplicated collecting system Meckel diverticulum Low-grade fever Abnormality of the thumb Aplastic anemia Tracheoesophageal fistula Acute myeloid leukemia Glucose intolerance Hypoplasia of the ulna Squamous cell carcinoma Ectopic kidney Absent thumb Myeloid leukemia Absent radius Abnormality of the upper limb Aplasia/Hypoplasia of the radius Irregular hyperpigmentation External ear malformation Hearing abnormality Chromosome breakage Abnormal eyelid morphology B-cell lymphoma Neurofibrosarcoma Superior pectus carinatum Increased bone mineral density Hypersplenism Multiple myeloma Avascular necrosis of the capital femoral epiphysis Abnormality of the spleen Generalized osteosclerosis Periorbital edema Esodeviation Abnormality of bone marrow cell morphology Edema of the lower limbs Flank pain Arthralgia of the hip Abnormal platelet function Orthopnea Erlenmeyer flask deformity of the femurs Biliary tract obstruction Supranuclear gaze palsy Increased serum ferritin Hematological neoplasm Increased antibody level in blood Meningitis Spastic paraparesis Osteolysis Increased susceptibility to fractures Menorrhagia Osteomyelitis Abnormality of coagulation Hepatocellular carcinoma Petechiae Pericardial effusion Pathologic fracture Exertional dyspnea Aseptic necrosis Protuberant abdomen Gingival bleeding Decreased beta-glucocerebrosidase protein and activity Cardiac valve calcification Amegakaryocytic thrombocytopenia Nonimmune hydrops fetalis Cystic hygroma Male infertility Abnormality of the vertebral column Neuroblastoma Gonadal dysgenesis Malignant hyperthermia Atrial flutter Abnormality of the coagulation cascade Shield chest Synovitis Schwannoma Asymmetry of the thorax Optic disc hypoplasia Lymphangioma Hypoplastic aortic arch Abnormality of color vision Radial deviation of finger Horizontal supranuclear gaze palsy Ventricular hypertrophy Pain Rod-cone dystrophy Broad forehead Triangular face Wide intermamillary distance Amenorrhea Primary amenorrhea Patent foramen ovale Clumsiness Left ventricular hypertrophy Plagiocephaly Bicuspid aortic valve Arnold-Chiari malformation Pterygium Elevated alkaline phosphatase Burkitt lymphoma



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Paralysis, related diseases and genetic alterations Neuroblastoma and Agenesis of corpus callosum, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more