Congestive heart failure, and Myelodysplasia

Diseases related with Congestive heart failure and Myelodysplasia

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

Top matches:

Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Diamond-Blackfan anemia (DBA) is an inherited red blood cell aplasia that usually presents in the first year of life. The main features are normochromic macrocytic anemia, reticulocytopenia, and nearly absent erythroid progenitors in the bone marrow. Patients show growth retardation, and approximately 30 to 50% have craniofacial, upper limb, heart, and urinary system congenital malformations. The majority of patients have increased mean corpuscular volume, elevated erythrocyte adenosine deaminase activity, and persistence of hemoglobin F. However, some DBA patients do not exhibit these findings, and even in the same family, symptoms can vary between affected family members (summary by Landowski et al., 2013). Genetic Heterogeneity of Diamond-Blackfan AnemiaA locus for DBA (DBA2 ) has been mapped to chromosome 8p23-p22. Other forms of DBA include DBA3 (OMIM ), caused by mutation in the RPS24 gene (OMIM ) on 10q22; DBA4 (OMIM ), caused by mutation in the RPS17 gene (OMIM ) on 15q; DBA5 (OMIM ), caused by mutation in the RPL35A gene (OMIM ) on 3q29; DBA6 (OMIM ), caused by mutation in the RPL5 gene (OMIM ) on 1p22.1; DBA7 (OMIM ), caused by mutation in the RPL11 gene (OMIM ) on 1p36; DBA8 (OMIM ), caused by mutation in the RPS7 gene (OMIM ) on 2p25; DBA9 (OMIM ), caused by mutation in the RPS10 gene (OMIM ) on 6p; DBA10 (OMIM ), caused by mutation in the RPS26 (OMIM ) gene on 12q; DBA11 (OMIM ), caused by mutation in the RPL26 gene (OMIM ) on 17p13; DBA12 (OMIM ), caused by mutation in the RPL15 gene (OMIM ) on 3p24; DBA13 (OMIM ), caused by mutation in the RPS29 gene (OMIM ) on 14q; DBA14 (OMIM ), caused by mutation in the TSR2 gene (OMIM ) on Xp11; DBA15 (OMIM ), caused by mutation in the RPS28 gene (OMIM ) on 19p13; DBA16 (OMIM ), caused by mutation in the RPL27 gene (OMIM ) on chromosome 17q21; and DBA17 (OMIM ), caused by mutation in the RPS27 gene (OMIM ) on chromosome 1q21.Boria et al. (2010) reviewed the molecular basis of Diamond-Blackfan anemia, emphasizing that it is a disorder of defective ribosome synthesis.Gazda et al. (2012) completed a large-scale screen of 79 ribosomal protein genes in families with Diamond-Blackfan anemia and stated that of the 10 known DBA-associated genes, RPS19 accounts for approximately 25% of patients; RPS24, 2%; RPS17, 1%; RPL35A, 3.5%; RPL5, 6.6%; RPL11, 4.8%; RPS7, 1%; RPS10, 6.4%; RPS26, 2.6%; and RPL26, 1%. Gazda et al. (2012) stated that in total these mutations account for approximately 54% of all DBA patients.In a study of 98 Japanese patients with DBA, Wang et al. (2015) detected probable causative mutations or large deletions in ribosomal protein genes in 56 (55%) of the patients, involving the RPS19 gene in 16 patients, RPL5 in 12, RPS17 in 7, RPL35A in 7, RPL11 in 5, and RPS26 in 4; RPS7, RPS10, RPL27, and RPS27 were each mutated in 1 patient.

DIAMOND-BLACKFAN ANEMIA 1; DBA1 Is also known as red cell aplasia, pure, hereditary|anemia, congenital erythroid hypoplastic|dba|blackfan-diamond syndrome|anemia, congenital hypoplastic, of blackfan and diamond|bds|erythrogenesis imperfecta|aase-smith syndrome ii|aregenerative anemia, chronic congenital

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about DIAMOND-BLACKFAN ANEMIA 1; DBA1

Medium match WERNER SYNDROME

Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Other less relevant matches:

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

Low 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

Congenital dyserythropoietic anemia type II (CDA II) is the most common form of CDA (see this term) characterized by anemia, jaundice and splenomegaly and often leading to liver iron overload and gallstones.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II Is also known as dyserythropoietic anemia, congenital, type ii|cda ii|sec23b-cdg|hempas|hereditary erythroblastic multinuclearity with positive acidified-serum test|cda type ii|cda type 2|hereditary erythroblastic multinuclearity with a positive acidified-serum test (hemp

Related symptoms:

  • Anemia
  • Hepatomegaly
  • Congestive heart failure
  • Splenomegaly
  • Arrhythmia


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE II

Low 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

POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME Is also known as pmse syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYHYDRAMNIOS-MEGALENCEPHALY-SYMPTOMATIC EPILEPSY SYNDROME

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

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 Myelodysplasia

Symptoms // Phenotype % cases
Leukemia Common - Between 50% and 80% cases
Thrombocytopenia Uncommon - Between 30% and 50% cases
Atrial septal defect Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
Abnormal cardiac septum morphology Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anemia Neutropenia Short stature Strabismus Failure to thrive Hypertelorism Growth delay Intellectual disability Diabetes mellitus Abnormal heart morphology Seizures Pancytopenia Hearing impairment Microcephaly Global developmental delay Nystagmus Fever Headache Hypogonadism Splenomegaly Arthritis Micrognathia Vomiting High palate Myeloid leukemia Type I diabetes mellitus Carcinoma Pain Cataract Proptosis Visual impairment Lymphoma Diarrhea Sensorineural hearing impairment Ventricular septal defect Cryptorchidism Arrhythmia Cardiomyopathy Ataxia

Rare Symptoms - Less than 30% cases

Postnatal growth retardation Reticulocytopenia Anemia of inadequate production Aplastic anemia Immunodeficiency Osteosarcoma Abnormal facial shape Pneumonia Narrow face Facial asymmetry Hypertrophic cardiomyopathy Absent thumb Respiratory failure Hepatomegaly Polyhydramnios Triphalangeal thumb Respiratory tract infection Congenital hypoplastic anemia Hypoplastic anemia Partial duplication of thumb phalanx Azoospermia Hypergonadotropic hypogonadism Insulin resistance Leukocytosis Coma Hypopigmentation of the skin Abnormality of blood and blood-forming tissues Nephropathy Hepatosplenomegaly Bruising susceptibility Rod-cone dystrophy Restrictive cardiomyopathy Peripheral neuropathy Squamous cell carcinoma Gastroesophageal reflux Pallor Constipation B-cell lymphoma Ventriculomegaly Acute myeloid leukemia Bone marrow hypocellularity Epicanthus Retinal degeneration Abnormality of cardiovascular system morphology Cleft palate Hydrocephalus Polyneuropathy Amenorrhea Bilateral sensorineural hearing impairment Abnormality of the liver Recurrent upper respiratory tract infections Downslanted palpebral fissures Recurrent urinary tract infections Macrocytic anemia Secondary amenorrhea Feeding difficulties Combined immunodeficiency Ptosis Verrucae Hoarse voice Intrauterine growth retardation Bronchiectasis Fatigue Lethargy Decreased antibody level in blood Otitis media Patent ductus arteriosus Premature birth Webbed neck Weight loss Hypothyroidism Paresthesia Abnormality of the testis Coarctation of aorta Edema Renal insufficiency Short neck Short thumb Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Aplasia/Hypoplasia of the uvula Osteomyelitis Abnormal carotid artery morphology Carious teeth Aplasia/Hypoplasia of fingers Neoplasm of head and neck Recurrent bacterial infections Pyridoxine-responsive sideroblastic anemia Reduced activity of N-acetylglucosaminyltransferase II Endopolyploidy on chromosome studies of bone marrow Increased hemoglobin Increased total bilirubin Chronic myelogenous leukemia Gout Reticulocytosis Prolonged neonatal jaundice Cholelithiasis Abnormality of the preputium Sinusitis Hyperbilirubinemia Cirrhosis Follicular hyperplasia Meningitis Increased red cell osmotic fragility Jaundice Almond-shaped palpebral fissure Villous atrophy Compensated hypothyroidism Hypopigmented skin patches Aplasia/Hypoplasia of the radius Absent radius Multiple cafe-au-lait spots Hydroureter Ectopic kidney Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Renal hypoplasia/aplasia External ear malformation Cranial nerve paralysis Leukopenia Horseshoe kidney Spina bifida Abnormal vertebral morphology Cafe-au-lait spot Telangiectasia Aganglionic megacolon Abnormality of the genital system Choanal atresia Short palpebral fissure Oligohydramnios Irregular hyperpigmentation Hearing abnormality Absent testis Abnormality of chromosome stability Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Meckel diverticulum Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Cellulitis Chromosome breakage Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the uterus Abnormality of the upper limb Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Abnormal localization of kidney Severe global developmental delay IgG deficiency Orthostatic hypotension Gastritis Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Myelopathy Constrictive median neuropathy Stroke-like episode Multiple myeloma Increased CSF protein Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Axonal degeneration Vitreous floaters Aphasia Interstitial pneumonitis Malnutrition Impotence Cerebral hemorrhage Rheumatoid arthritis Cachexia Atrioventricular block Generalized lymphadenopathy Spastic paraparesis Paraparesis Abnormal autonomic nervous system physiology Vasculitis Orthostatic hypotension due to autonomic dysfunction Cardiac amyloidosis Hemiparesis Immune dysregulation Chronic lung disease Exocrine pancreatic insufficiency Autoimmune thrombocytopenia Brain neoplasm Fatigable weakness IgA deficiency Recurrent sinusitis Autoimmune hemolytic anemia Colitis Interstitial pulmonary abnormality Inflammation of the large intestine Clubbing Cor pulmonale IgM deficiency Amyloid deposition in the vitreous humor Abnormal intestine morphology Purpura Conjunctivitis Chronic diarrhea Abnormal lung morphology Recurrent otitis media Inflammatory abnormality of the skin Asthma Hemolytic anemia Lymphadenopathy Autoimmunity Recurrent respiratory infections Recurrent infections Hallucinations Cardiomegaly Periodontitis Absent speech Increased body weight Open mouth Thick lower lip vermilion Status epilepticus Focal-onset seizure Highly arched eyebrow Inability to walk Long face Clubbing of fingers Wide mouth Joint laxity Difficulty walking High forehead Macrocephaly Shock Wide nasal bridge Muscular hypotonia Generalized hypotonia Myelokathexis Bone marrow hypercellularity Hypersegmentation of neutrophil nuclei Tonsillitis Septic arthritis Folliculitis Abnormality of bone marrow cell morphology Abnormality of female external genitalia Abnormality of female internal genitalia Atelectasis Nephrocalcinosis Drooling Peripheral demyelination Dysarthria Neuronal loss in central nervous system Hypotension Migraine Urinary incontinence Gliosis Peripheral axonal neuropathy Paraplegia Malabsorption Facial palsy Dementia Hyporeflexia Areflexia Tremor Spasticity Tented upper lip vermilion Muscle weakness Hypovolemic shock Hyperplasia of midface Minimal subcutaneous fat Multifocal epileptiform discharges Astrocytosis Sloping forehead Thick upper lip vermilion Facial hypotonia Megalencephaly Decreased muscle mass Diabetes insipidus Focal impaired awareness seizure Large forehead Shield chest Tetralogy of Fallot Skin ulcer Lipodystrophy Dermal atrophy Sarcoma Laryngomalacia Breast carcinoma Melanoma Atherosclerosis Macular degeneration Spontaneous abortion Increased bone mineral density Abnormality of the hair Abnormality of retinal pigmentation Polydipsia Decreased body weight Sparse scalp hair Myocardial infarction Type II diabetes mellitus Decreased testicular size Convex nasal ridge Chest pain Small hand Retinopathy Joint stiffness Micropenis Hyperkeratosis Abnormality of the voice Abnormality of the thorax Alopecia Alopecia of scalp Pili torti Chondrocalcinosis Lack of skin elasticity Peripheral arterial stenosis Abnormality of the cerebral vasculature Renal neoplasm Meningioma Progeroid facial appearance Posterior subcapsular cataract Pulmonary artery stenosis Neoplasm of the lung Premature loss of teeth Rocker bottom foot Subcapsular cataract Prematurely aged appearance Ovarian neoplasm Scleroderma Telangiectasia of the skin Aplasia/Hypoplasia of the skin Lipoatrophy Decreased fertility Polyphagia Premature graying of hair High pitched voice Polyuria Osteoporosis Behavioral abnormality White forelock Hyperglycemia Cleft lip Retrognathia Glaucoma Flexion contracture Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Sideroblastic anemia Abnormality of the basal ganglia Abdominal situs inversus Megaloblastic anemia Polycystic ovaries Nausea and vomiting Cone/cone-rod dystrophy Aminoaciduria Cardiac arrest Situs inversus totalis Anorexia Abnormality of the skin Aciduria Retinal dystrophy Stroke Hypoglycemia Visual loss Optic atrophy Narrow chest Cleft upper lip Abnormality of the dentition Unilateral cleft lip Skeletal muscle atrophy Hypertension Hypoplastic sacral vertebrae Hypoplastic coccygeal vertebrae Transient erythroblastopenia Bifid thoracic vertebrae Elevated red cell adenosine deaminase activity Persistence of hemoglobin F Branchial cyst Erythroid hypoplasia Everted upper lip vermilion Parietal foramina Increased mean corpuscular volume Nausea 11 pairs of ribs Hypoplastic ilia Thrombocytosis Vertebral fusion Colon cancer Congenital glaucoma Delayed cranial suture closure Abnormality of the hand Hypoplasia of the radius Abnormal dermatoglyphics Hydrops fetalis Depressed nasal ridge Slender build Thyroid carcinoma Renal agenesis Optic disc hypoplasia Gonadal neoplasm Pectus excavatum of inferior sternum Loose anagen hair Juvenile myelomonocytic leukemia Panuveitis Neurofibrosarcoma Reduced factor XII activity Superior pectus carinatum Amegakaryocytic thrombocytopenia Hypoplastic aortic arch Lymphangioma Asymmetry of the thorax Nasogastric tube feeding Multiple lentigines Schwannoma Synovitis Atrial flutter Nonimmune hydrops fetalis Drusen Malignant hyperthermia Arnold-Chiari type I malformation Gonadal dysgenesis Neuroblastoma Abnormality of the vertebral column Male infertility Reduced factor XIII activity Preductal coarctation of the aorta Neurofibromas Abnormality of the kidney Abnormality of skin pigmentation Vertigo Astigmatism Anal atresia Abnormality of the foot Toe syndactyly Dolichocephaly Hip dislocation Finger syndactyly Small for gestational age Irritability Abnormality of the eye Postductal coarctation of the aorta Pes planus Umbilical hernia Upslanted palpebral fissure Severe short stature Clinodactyly of the 5th finger Hypospadias Microphthalmia Respiratory distress Abnormality of the skeletal system Frontal bossing Hyperreflexia Scoliosis Cystic hygroma Abnormality of color vision Enlarged joints Acral lentiginous melanoma Posteriorly rotated ears Clinodactyly Pectus excavatum Hernia Dilatation Intellectual disability, mild Myopia Brachydactyly Depressed nasal bridge Cognitive impairment Low-set ears Aplasia/Hypoplasia of the testes Kyphoscoliosis Neoplasm of the oral cavity Premature arteriosclerosis Gastrointestinal carcinoma Neoplasm of the small intestine Subcutaneous calcification Poliosis Abnormal hair whorl Soft tissue sarcoma Chorioretinitis Cutaneous melanoma Narrow nasal ridge Arteriosclerosis Abdominal pain Low-set, posteriorly rotated ears Abnormality of the coagulation cascade Left ventricular hypertrophy Radial deviation of finger Cubitus valgus Patent foramen ovale Failure to thrive in infancy Elevated alkaline phosphatase Pterygium Poor suck Arnold-Chiari malformation Bicuspid aortic valve Plagiocephaly Lymphedema Amblyopia Clumsiness Sparse hair Primary amenorrhea Low posterior hairline Ventricular hypertrophy Wide intermamillary distance Dental malocclusion Abnormal bleeding Abdominal distention Triangular face High, narrow palate Pulmonic stenosis Hypotrichosis Broad forehead Burkitt lymphoma


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