Congestive heart failure, and Triangular face

Diseases related with Congestive heart failure and Triangular face

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


Top matches:

High match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

High match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

High match ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5


Distal arthrogryposis type 5 is distinguished from other forms of DA by the presence of ocular abnormalities, typically ptosis, ophthalmoplegia, and/or strabismus, in addition to contractures of the skeletal muscles. Some cases have been reported to have pulmonary hypertension as a result of restrictive lung disease (summary by Bamshad et al., 2009).There are 2 syndromes with features overlapping those of DA5 that are also caused by heterozygous mutation in PIEZO2: distal arthrogryposis type 3 (DA3, or Gordon syndrome; {114300}) and Marden-Walker syndrome (MWKS ), which are distinguished by the presence of cleft palate and mental retardation, respectively. McMillin et al. (2014) suggested that the 3 disorders might represent variable expressivity of the same condition.For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1A (OMIM ). Genetic Heterogeneity of Distal Arthrogryposis 5A subtype of DA5 due to mutation in the ECEL1 gene (OMIM ) on chromosome 2q36 has been designated DA5D (OMIM ). See NOMENCLATURE.

ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5 Is also known as daiib|arthrogryposis, distal, type iib|arthrogryposis with oculomotor limitation and electroretinal abnormalities|oculomelic amyoplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 5; DA5

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Other less relevant matches:

High match LEOPARD SYNDROME 1; LPRD1


LEOPARD is an acronym for the manifestations of this syndrome as listed by Gorlin et al. (1969): multiple lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormal genitalia, retardation of growth, and sensorineural deafness. Genetic Heterogeneity of LEOPARD SyndromeLEOPARD syndrome is a genetically heterogeneous disorder. See also LEOPARD syndrome-2 (OMIM ), caused by mutation in the RAF1 gene (OMIM ), and LEOPARD syndrome-3 (OMIM ), caused by mutation in the BRAF gene (OMIM ).

LEOPARD SYNDROME 1; LPRD1 Is also known as multiple lentigines syndrome|lentiginosis, cardiomyopathic

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEOPARD SYNDROME 1; LPRD1

High 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

High 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

High match VICI SYNDROME


Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.

VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about VICI SYNDROME

High match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

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

Low match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27


CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (OMIM ).An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (OMIM ), and MYL3 (OMIM ) genes has also been reported in 1 family.

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Cardiomyopathy
  • Edema


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

Top 5 symptoms//phenotypes associated to Congestive heart failure and Triangular face

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Low-set ears

Common Symptoms - More than 50% cases


High palate

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Dilatation Micrognathia Growth delay Seizures Hypertension Ptosis Cleft palate Sensorineural hearing impairment Clinodactyly Depressed nasal bridge Cryptorchidism Global developmental delay Hearing impairment Protruding ear Neoplasm Cataract Depressivity Pulmonic stenosis Failure to thrive Wide nasal bridge Microcephaly Broad forehead Intellectual disability, mild Epicanthus High pitched voice Cirrhosis Hepatosplenomegaly Scoliosis Edema Ventricular hypertrophy Short neck Pectus excavatum Left ventricular hypertrophy Webbed neck Coarctation of aorta Hepatomegaly Pain Arrhythmia Delayed puberty Pterygium Generalized hypotonia Feeding difficulties Retinopathy Abnormality of the skeletal system Ventricular septal defect Blepharophimosis Pointed chin Macrotia Hernia Motor delay Downslanted palpebral fissures Atrial septal defect Ventriculomegaly

Rare Symptoms - Less than 30% cases


Multiple lentigines Lymphedema Muscular hypotonia Hypoplasia of the corpus callosum Spina bifida occulta Scapular winging Overgrowth Intrauterine growth retardation Syncope Pneumonia Cognitive impairment Kyphoscoliosis Conductive hearing impairment Bulbous nose Polymicrogyria Wide intermamillary distance Abnormality of retinal pigmentation Adducted thumb Vertebral segmentation defect Keratoconus Camptodactyly Talipes equinovarus Dilated cardiomyopathy Abnormality of cardiovascular system morphology Hypospadias Micropenis Abnormal heart morphology Posteriorly rotated ears Frontal bossing Peripheral neuropathy Hypogonadism Nystagmus Cardiac arrest Bicuspid aortic valve Ventricular arrhythmia Long nose Renal tubular acidosis Poor suck Delayed speech and language development Hypopigmentation of the fundus Flexion contracture Hypopigmentation of the skin Rod-cone dystrophy Acidosis Coarse facial features High, narrow palate Postnatal growth retardation Decreased body weight Renal hypoplasia Astigmatism Scaphocephaly Hypodontia Abdominal distention Decreased antibody level in blood Pigmentary retinopathy Increased body weight Slender long bone Myopia Specific learning disability Muscle weakness Brachydactyly Fever Respiratory distress Delayed skeletal maturation Clinodactyly of the 5th finger Facial asymmetry Abnormality of skin pigmentation Cubitus valgus Insulin-resistant diabetes mellitus Joint stiffness Mask-like facies Abnormality of the genital system Hypertriglyceridemia Epidermal acanthosis Insulin resistance Areflexia Alopecia Deeply set eye Acanthosis nigricans Elevated hepatic transaminase Bundle branch block Mandibular prognathia Splenomegaly Angina pectoris Diabetes mellitus Sepsis Carcinoma Abnormality of the cerebellar vermis Abnormality of the thymus Abnormality of the optic disc Brachycephaly Recurrent aspiration pneumonia Jaundice Decreased proportion of CD4-positive T cells Abnormality of the mandible Granulocytopenia Pontocerebellar atrophy Shield chest Abnormal macular morphology Abnormal posturing Recurrent fungal infections Abnormality of the kidney Neuroblastoma Synovitis Schwannoma Craniosynostosis Abnormality of the liver Muscle flaccidity Atrial flutter Restrictive cardiomyopathy Immunoglobulin IgG2 deficiency Abnormality of blood and blood-forming tissues Prominent forehead Loose anagen hair Visual loss Renal insufficiency Gonadal dysgenesis Acute bronchitis White matter neuronal heterotopia Severe T-cell immunodeficiency Penile hypospadias Ureteral atresia Upslanted palpebral fissure Aplasia/Hypoplasia of the macula Decreased T cell activation Cutaneous anergy Arnold-Chiari type I malformation Cellular immunodeficiency Drusen Nonimmune hydrops fetalis Abnormal immunoglobulin level Frontoparietal polymicrogyria Schizencephaly Malignant hyperthermia Hypotrichosis Hypoplasia of the thymus Panuveitis Leukopenia Recurrent bacterial infections Aspiration Amegakaryocytic thrombocytopenia Lymphopenia Progressive microcephaly Decreased liver function Heterotopia Open mouth Progressive neurologic deterioration Cerebellar vermis hypoplasia Hypotelorism Infantile muscular hypotonia Narrow forehead Delayed myelination Superior pectus carinatum Neutropenia Sleep disturbance Reduced factor XII activity Neurofibrosarcoma Thick vermilion border Wide nose Pulmonary hypoplasia Cleft upper lip Aplasia/Hypoplasia of the corpus callosum Juvenile myelomonocytic leukemia Recurrent viral infections IgG deficiency Asymmetry of the thorax Abnormal cortical gyration Scarring Hypoplasia of the pons Fair hair Optic disc hypoplasia Renal tubular dysfunction Ocular albinism Depressed nasal tip Severe failure to thrive Aspiration pneumonia Severe sensorineural hearing impairment Congenital sensorineural hearing impairment Hypopigmentation of hair Optic neuropathy Abnormality of immune system physiology Lymphangioma Hypoplastic aortic arch Centrally nucleated skeletal muscle fibers Bronchitis Macular atrophy Neurodevelopmental delay Combined immunodeficiency Albinism Chronic mucocutaneous candidiasis Pruritus Stroke Coronal craniosynostosis Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Pulmonary artery stenosis Papillary thyroid carcinoma Abnormality of the vasculature Primary amenorrhea Right ventricular hypertrophy Dilatation of the cerebral artery Hepatocellular carcinoma Exocrine pancreatic insufficiency Tricuspid regurgitation Hydrops fetalis Cardiomegaly Postductal coarctation of the aorta Preductal coarctation of the aorta Band keratopathy Axenfeld anomaly Posterior embryotoxon Constipation Bruising susceptibility Abnormal bleeding Dental malocclusion Abnormal cardiac septum morphology Sparse hair Amenorrhea Low-set, posteriorly rotated ears Gastroesophageal reflux Polyhydramnios Proptosis Abdominal pain Patent ductus arteriosus Vitamin D deficiency Thrombocytopenia Headache Vomiting Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Low posterior hairline Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Nasogastric tube feeding Reduced factor XIII activity Abnormality of the vertebral column Microcornea Abnormality of the ribs Tetralogy of Fallot Gastrointestinal hemorrhage Prominent nose Round face Failure to thrive in infancy Patent foramen ovale Myelodysplasia Radial deviation of finger Vesicoureteral reflux Abnormality of the coagulation cascade Leukocytosis Cholestasis Abnormality of color vision Short distal phalanx of finger Neurofibromas Flat face Hepatic failure Stage 5 chronic kidney disease Anal atresia Malabsorption Cystic hygroma Leukemia Male infertility Short philtrum Nephrotic syndrome Elevated alkaline phosphatase Abnormality of the ureter Amblyopia Telangiectasia of the skin Gonadal neoplasm Left ventricular noncompaction Prolonged neonatal jaundice Pectus excavatum of inferior sternum Chorioretinal atrophy Malnutrition Hypoplasia of the ulna Heart murmur Glomerulosclerosis Clumsiness Portal hypertension Abnormal form of the vertebral bodies Plagiocephaly Azoospermia Renal hypoplasia/aplasia Corneal dystrophy Hypercholesterolemia Finger clinodactyly Multicystic kidney dysplasia Hemivertebrae Abnormal vertebral morphology Arnold-Chiari malformation Exotropia Renal dysplasia Congenital cataract Short foot Severe global developmental delay Restrictive ventilatory defect Tapetoretinal degeneration Abnormality of the rib cage Overlapping fingers Hypoventilation Distal arthrogryposis Aplasia/Hypoplasia of the radius Ulnar deviation of finger Abnormality of the sternum Tarsal synostosis Abnormality of the hip bone Long fingers Macular dystrophy Unilateral ptosis Decreased muscle mass Bilateral talipes equinovarus Congenital contracture Bilateral ptosis Abnormal electroretinogram Bilateral single transverse palmar creases Narrow face Joint contracture of the hand Abnormal lung morphology Lumbar hyperlordosis Arachnodactyly Retinal fold Duane anomaly Abnormality of eye movement Kyphosis Unilateral renal agenesis Mutism Aortic valve stenosis Cafe-au-lait spot Mitral regurgitation Depressed nasal ridge Myocardial infarction Chest pain Pectus carinatum Neonatal hypotonia Hyperkeratosis Respiratory insufficiency Ulnar deviation of the wrist Fatigue Internally rotated shoulders Exophoria Firm muscles Decreased facial expression Amyoplasia Limited wrist extension Absent phalangeal crease Congenital finger flexion contractures Round ear Keratoglobus Decreased palmar creases Abnormality of the foot Hypermetropia Severe hearing impairment Wide nasal base Accelerated skeletal maturation Nephrolithiasis Tall stature Hypertrichosis Nephropathy Hepatic steatosis Hirsutism Autoimmunity Umbilical hernia Hyperhidrosis Narrow naris Cavum septum pellucidum Polycystic ovaries Entropion Disproportionate tall stature Right bundle branch block Focal impaired awareness seizure Cutis laxa Narrow palpebral fissure Sloping forehead Convex nasal ridge Focal-onset seizure Gliosis Retrognathia Inguinal hernia Hyperlipidemia Hyperinsulinemia Ophthalmoplegia Decreased fertility in females Arthrogryposis multiplex congenita Hyperlordosis Narrow mouth Generalized muscular appearance from birth Labial hypertrophy Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Insulin-resistant diabetes mellitus at puberty Prominent umbilicus Decreased serum leptin Congenital generalized lipodystrophy Generalized lipodystrophy Lipodystrophy Acute pancreatitis Glioma Bone cyst Abnormality of the ovary Long foot Oligomenorrhea Abnormality of lipid metabolism Lipoatrophy Polyphagia Skeletal muscle hypertrophy Large hands Clitoral hypertrophy Bilateral cryptorchidism Multiple cafe-au-lait spots Respiratory tract infection Hypokalemia Persistence of primary teeth Periodic paralysis Hyperthyroidism Abnormal heart valve morphology Agenesis of permanent teeth Prolonged QT interval Hyperkalemia Loss of consciousness 2-3 toe syndactyly Preauricular pit Myotonia Short metatarsal Toe clinodactyly Growth abnormality Oligodontia Ventricular tachycardia Short chin Short phalanx of finger Hypoplasia of dental enamel Palpitations Tetraparesis Short palpebral fissure Short metacarpal Hypoplasia of the maxilla Delayed eruption of permanent teeth Clinodactyly of the 5th toe Small hand Long philtrum Feeding difficulties in infancy Cleft lip Muscular hypotonia of the trunk EEG abnormality Respiratory failure Cerebral cortical atrophy Recurrent respiratory infections Agenesis of corpus callosum Cerebellar hypoplasia Recurrent infections Immunodeficiency Hypertonia Periodic hypokalemic paresis Cerebellar atrophy Myopathy Anteverted nares Optic atrophy Hyperreflexia Spasticity Prominent U wave Prominent frontal sinuses Bidirectional ventricular ectopy Antegonial notching of mandible Periodic hyperkalemic paralysis Short mandibular rami Delayed eruption of teeth Inability to walk Heart block Dysarthria Cyanosis Growth hormone deficiency Nevus Ascites Infertility Dolichocephaly Small for gestational age Intellectual disability, moderate Abnormality of the nervous system Severe short stature Macrocephaly Aplasia of the ovary Dental crowding Coronary artery aneurysm Numerous nevi Hypoplasia of the ovary Third degree atrioventricular block Delayed menarche Parietal bossing Limited elbow movement Subvalvular aortic stenosis Abnormal aortic valve morphology Abnormal mitral valve morphology Hyposmia Missing ribs Type II diabetes mellitus Reduced tendon reflexes Short palm Constrictive pericarditis Tachycardia Toe syndactyly Paralysis Joint laxity Thin upper lip vermilion Gait ataxia Syndactyly Malar flattening Abnormality of the dentition Ataxia Pericardial constriction Hypoplastic frontal sinuses Cachexia J-shaped sella turcica Absent frontal sinuses Peripheral edema Fibroma Weak voice Prominent superficial veins Myocardial fibrosis Microglossia Pericarditis Pulmonary fibrosis Nephroblastoma Premature ovarian insufficiency Multiple pterygia



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