Cardiomyopathy, and Coronary artery atherosclerosis

Diseases related with Cardiomyopathy and Coronary artery atherosclerosis

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


Top matches:

Medium match ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1


Arrhythmogenic right ventricular dysplasia (ARVD) is a clinical and pathologic entity for which the diagnosis rests on electrocardiographic and angiographic criteria; pathologic findings, replacement of ventricular myocardium with fatty and fibrous elements, preferentially involve the right ventricular free wall. It is inherited in an autosomal dominant manner with reduced penetrance and is one of the major genetic causes of juvenile sudden death. When the dysplasia is extensive, it may represent the Uhl anomaly ('parchment right ventricle'). The presenting finding is usually recurrent, sustained ventricular tachycardia with left bundle branch block configuration. Basso et al. (2009) provided a detailed review of ARVD, including diagnosis, pathogenesis, treatment options, and genetics. Genetic Heterogeneity of Familial Arrhythmogenic Right Ventricular DysplasiaOther forms of ARVD include ARVD2 (OMIM ), caused by mutation in the RYR2 gene (OMIM ) on chromosome 1q42-q43; ARVD3 (OMIM ), on chromosome 14q12-q22; ARVD4 (OMIM ), on chromosome 2q32.1-q32.3; ARVD5 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ) on chromosome 3p23; ARVD6 (OMIM ), on chromosome 10p14-p12; ARVD8 (OMIM ), caused by mutation in the DSP gene (OMIM ) on chromosome 6p24; ARVD9 (OMIM ), caused by mutation in the PKP2 gene (OMIM ) on chromosome 12p11; ARVD10 (OMIM ), caused by mutation in the DSG2 (OMIM ) on chromosome 18q12.1; ARVD11 (OMIM ), caused by mutation in the DSC2 gene (OMIM ) on chromosome 18q12.1; ARVD12 (OMIM ), caused by mutation in the JUP gene (OMIM ) on chromosome 17q21; and ARVD13 (OMIM ), caused by mutation in the CTNNA3 gene (OMIM ) on chromosome 10q21.ARVD7 is a former designation for a form of myopathy and ARVD mapped to chromosome 10q22, which was later found to be a form of myofibrillar myopathy (MFM1 ) caused by mutation in the DES gene (OMIM ) on chromosome 2q35.Christensen et al. (2010) screened 65 ARVD probands for mutations in 5 desmosomal genes as well as the TGFB3 gene (OMIM ), and identified 19 different mutations in the desmosomal genes in 12 of the families, including 7 with more than 1 mutation. In 6 families, digenic mutation carriers were identified, with at least 1 of the mutations being absent in the control population. The authors stated that their findings partially supported a gene dosage effect, although phenotypic variation was large.Nitoiu et al. (2014) reviewed desmosome biology in cardiocutaneous syndromes and inherited skin disease, including discussion of the involvement of the DSP, PKP2, DSG2, DSC2, and JUP genes.

ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1 Is also known as arvc1|arrhythmogenic right ventricular cardiomyopathy 1

Related symptoms:

  • Fever
  • Cardiomyopathy
  • Edema
  • Myopathy
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 1; ARVD1

Medium match CARDIOMYOPATHY, DILATED, 1S; CMD1S


Related symptoms:

  • Muscle weakness
  • Ventriculomegaly
  • Cardiomyopathy
  • Myopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1S; CMD1S

Medium match LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME


LMNA-related cardiocutaneous progeria syndrome is a rare, genetic, premature aging syndrome characterized by adulthood-onset cutaneous manifestations that result in a prematurely aged appearance (i.e. premature thinning and graying of scalp hair, loss of subcutaneous fat, tightening of skin) associated with prominent cardiovascular manifestations, such as accelerated atherosclerosis, calcific valve disease, and cardiomyopathy. Patients present loss of eyebrows and eyelashes in childhood and have a predisposition to develop malignancies.

LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME Is also known as lcps

Related symptoms:

  • Hypertension
  • Cardiomyopathy
  • Congestive heart failure
  • Sparse hair
  • Ventricular hypertrophy


SOURCES: ORPHANET MENDELIAN

More info about LMNA-RELATED CARDIOCUTANEOUS PROGERIA SYNDROME

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Other less relevant matches:

Medium match PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

Low match AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY


Related symptoms:

  • Micrognathia
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL SEMI-DOMINANT SEVERE LIPODYSTROPHIC LAMINOPATHY

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Low 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

Low match FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME


Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).

HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about HUTCHINSON-GILFORD PROGERIA SYNDROME

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Coronary artery atherosclerosis

Symptoms // Phenotype % cases
Congestive heart failure Very Common - Between 80% and 100% cases
Hypertension Common - Between 50% and 80% cases
Atherosclerosis Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Coronary artery atherosclerosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Lipoatrophy Myalgia Myocardial infarction Hypertriglyceridemia Dilatation Short stature Angina pectoris Lipodystrophy Ventricular arrhythmia Acanthosis nigricans Insulin resistance Stroke Diabetes mellitus Thin skin Cataract Ventricular hypertrophy Hepatic steatosis Reduced subcutaneous adipose tissue Loss of subcutaneous adipose tissue in limbs Premature graying of hair Intracranial hemorrhage Decreased HDL cholesterol concentration Mitral regurgitation Prominent superficial veins Left ventricular hypertrophy Skeletal muscle atrophy Hyperinsulinemia Pain Sensorineural hearing impairment Hearing impairment Dysmenorrhea Hepatomegaly Splenomegaly Secondary amenorrhea Papule Osteolytic defects of the phalanges of the hand Aplasia/Hypoplasia of the skin Micrognathia Skeletal muscle hypertrophy Generalized hirsutism Pancreatitis Polycystic ovaries Infertility Hypothyroidism Xanthomatosis Abnormality of the cardiovascular system T-wave inversion Tricuspid regurgitation Peripheral arterial stenosis Sudden cardiac death Dilated cardiomyopathy Dyspnea Arrhythmia Edema Hyperlipidemia

Rare Symptoms - Less than 30% cases


Abnormal EKG Abnormality of the skeletal system Transient ischemic attack Supraventricular arrhythmia Narrow chest Advanced eruption of teeth Precocious atherosclerosis Thin vermilion border Spontaneous abortion Abnormality of the nail Absence of subcutaneous fat Round face Glomerulopathy Short clavicles Abnormality of lipid metabolism Accelerated atherosclerosis Heart murmur Midface retrusion Aminoaciduria Hypohidrosis Carcinoma Abnormality of skeletal muscle fiber size Chest pain Eclampsia Hyperlipoproteinemia Narrow nasal ridge Pruritus Increased adipose tissue around the neck Mitral valve prolapse Abnormality of the thorax Delayed puberty Ischemic stroke Paresthesia Subcutaneous nodule Muscle cramps Bradycardia Dementia Exercise intolerance Progressive hearing impairment Premature ovarian insufficiency Scoliosis Growth delay Renal insufficiency Hypogonadism Telangiectasia of the skin Increased intraabdominal fat Abnormal mitral valve morphology Skin rash Seizures Hyperkeratotic papule Intermittent claudication Abnormal endocardium morphology Arteriosclerosis Cognitive impairment Depressivity Visual impairment Peripheral neuropathy Restrictive cardiomyopathy Lack of skin elasticity Fatigue Respiratory insufficiency Increased facial adipose tissue Fever Abnormal myocardium morphology Mitral valve calcification Left bundle branch block Ventricular tachycardia Coronary artery stenosis Hypercholesterolemia Multiple lipomas Elevated erythrocyte sedimentation rate Emphysema Proximal muscle weakness Aortic valve stenosis Bundle branch block Sparse hair Muscle weakness Absent eyelashes Aortic root aneurysm Ventricular fibrillation Scleroderma Exertional dyspnea Palpitations Syncope Epidermal acanthosis Maternal diabetes ST segment depression Insulin-resistant diabetes mellitus Hyperuricemia Atrial fibrillation Hyperglycemia Tachycardia Atrioventricular block Hirsutism Amenorrhea Tubular atrophy Old-aged sensorineural hearing impairment Clubbing of fingers Abnormality of the gastrointestinal tract Carotid artery stenosis Reduced ejection fraction Large earlobe Renal tubular dysfunction Bilateral coxa valga Elevated serum creatinine Heat intolerance Edema of the lower limbs Supraventricular tachycardia Oligospermia Tubulointerstitial nephritis Craniofacial disproportion Narrow nasal tip Chronic fatigue Chronic obstructive pulmonary disease Miosis Widely patent fontanelles and sutures Microalbuminuria Conjunctival telangiectasia Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Parietal bossing Abnormal renal physiology Abnormal aortic valve morphology Achalasia Gastrointestinal dysmotility Periorbital fullness Asymmetric septal hypertrophy High-frequency hearing impairment Abnormality of the nose Bird-like facies Prominent scalp veins Hypoplastic facial bones Abnormality of femur morphology Myocardial fibrosis Sinus bradycardia Reticulated skin pigmentation Xerostomia Coxa valga Absence of pubertal development Abnormal lung morphology Reduced bone mineral density Corneal dystrophy Abnormal intestine morphology Aortic regurgitation Purpura Arteriosclerosis of small cerebral arteries Abnormal autonomic nervous system physiology Fasciculations Lymphedema Anorexia Thick lower lip vermilion Easy fatigability Nephrotic syndrome Hypotension Urinary incontinence Abdominal distention Nephropathy Hematuria Thick vermilion border Thick eyebrow Bulbous nose Nausea Tinnitus Chronic kidney disease Wheezing Biventricular hypertrophy Renal tubular acidosis Glycosuria Abnormal heart valve morphology Celiac disease Orthostatic hypotension Insulin-resistant diabetes mellitus at puberty Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Impotence Abnormal trabecular bone morphology Regional abnormality of skin Prominent supraorbital ridges Loss of consciousness Anhidrosis Polyuria Diabetes insipidus Impaired vibratory sensation Clubbing Personality changes Polydipsia Glomerulosclerosis Hemiplegia Abnormality of the hand Primary hypothyroidism Abnormality of temperature regulation Abnormality of cardiovascular system physiology Joint stiffness Down-sloping shoulders Hypodontia Hyperphosphatemia Delayed eruption of teeth Carious teeth Hypotrichosis Hypermetropia Ovoid vertebral bodies Hip dislocation Generalized osteoporosis Microtia Conductive hearing impairment Thrombocytosis Small face Osteopenia Macrotia Proptosis Narrow mouth Osteoporosis Prominent forehead Alopecia Aplasia/Hypoplasia of the earlobes Malar flattening Short nose Fragile nails Limitation of joint mobility Abnormality of the dentition High pitched voice Relative macrocephaly Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Dermal atrophy Increased bone mineral density Aspiration Sparse and thin eyebrow Nasal speech Metaphyseal widening Dental crowding Multiple joint contractures Decreased body weight Alopecia of scalp Prolonged QT interval Broad-based gait Thin ribs Keratoconjunctivitis sicca Osteoarthritis Cardiomegaly Hypoplastic nipples Cyanosis Convex nasal ridge Nail dysplasia Renal cell carcinoma Growth hormone deficiency Kyphosis Macrocephaly Corneal arcus Hip pain Carcinoid tumor Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Impaired temperature sensation Aplastic clavicle Obstructive lung disease Angiokeratoma Reduced sperm motility Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Decreased lacrimation Thin nail Premature coronary artery atherosclerosis Decreased glomerular filtration rate Nephrogenic diabetes insipidus Osteolysis Limb pain Corneal crystals Retinal vascular tortuosity Vascular skin abnormality Decreased testosterone in males Sinus tachycardia Decreased female libido Prolonged prothrombin time Shortened PR interval Flexion contracture Abnormal ST segment Abnormal facial shape Failure to thrive Neoplasm Intellectual disability Cornea verticillata Enlarged joints Abnormal glomerular filtration rate Thin bony cortex Abnormality of the common coagulation pathway Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal common carotid artery morphology Concentric hypertrophic cardiomyopathy Decreased serum estradiol Acroparesthesia Heavy proteinuria Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Abnormality of the forehead Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract Unexplained fevers Mucosal telangiectasiae Stage 5 chronic kidney disease Metamorphopsia Vertigo Gait disturbance Limb muscle weakness Ophthalmoplegia Severe global developmental delay Rigidity Cerebral cortical atrophy Elevated serum creatine phosphokinase Hyporeflexia Areflexia Cerebral atrophy Dysphagia Tremor Sensory neuropathy Dysarthria Ptosis Ataxia Global developmental delay Proximal upper limb muscle hypertrophy Muscle hypertrophy of the lower extremities Decreased adiponectin level Acroosteolysis of distal phalanges (feet) Minimal subcutaneous fat Decreased serum leptin Abnormal atrioventricular conduction Lower limb muscle weakness Generalized muscle weakness Marked muscular hypertrophy Mutism Mitochondrial myopathy Progressive external ophthalmoplegia Bipolar affective disorder Insomnia Resting tremor Abnormality of the thyroid gland Sensory axonal neuropathy Ophthalmoparesis Apathy Bilateral ptosis Dysphonia EMG: myopathic abnormalities Parkinsonism Ragged-red muscle fibers External ophthalmoplegia Diplopia Progressive muscle weakness Status epilepticus Bradykinesia Memory impairment Increased serum lactate Migraine Brain atrophy Gliosis Progeroid facial appearance Loss of gluteal subcutaneous adipose tissue Sensory ataxia Pulmonic stenosis Cardiogenic shock Reduced systolic function First degree atrioventricular block Abnormal left ventricle morphology Left ventricular noncompaction Pulmonary artery stenosis Pulmonary embolism Bicuspid aortic valve Shock Pulmonary arterial hypertension Coarctation of aorta Ventriculomegaly Left ventricular noncompaction cardiomyopathy Sinoatrial block Abnormality of the left ventricular outflow tract Abnormal right ventricle morphology T-wave inversion in the right precordial leads Dilatation of the ventricular cavity Peripheral edema ST segment elevation Right ventricular cardiomyopathy Myofibrillar myopathy Myocarditis Cardiac arrest Aortic arch aneurysm Pulmonary artery hypoplasia Prominent veins on trunk Aortic atherosclerosis Loss of facial adipose tissue Calf muscle pseudohypertrophy Abnormality of the neck Preeclampsia Oligomenorrhea Abnormality of the musculature Abnormality of the face Primary amenorrhea Cirrhosis Hepatosplenomegaly Abnormality of the intrahepatic bile duct Pulmonary carcinoid tumor Ebstein anomaly of the tricuspid valve Loss of eyelashes Papillary renal cell carcinoma Abnormality of the pulmonary artery Squamous cell carcinoma of the skin Alopecia universalis Premature skin wrinkling Prematurely aged appearance Basal cell carcinoma Aplasia/Hypoplasia of the eyebrow Absent eyebrow Sparse scalp hair Limb-girdle muscle weakness Cytochrome C oxidase-negative muscle fibers Nausea and vomiting Cranial nerve paralysis Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Sunken cheeks Abnormality of complement system Adipose tissue loss Osteopoikilosis Congenital generalized lipodystrophy Generalized lipodystrophy Abnormality of the menstrual cycle Acute pancreatitis Cellulitis High forehead Labial pseudohypertrophy Pectus excavatum Obesity Medial calcification of small arteries Abnormal atrioventricular valve morphology Medial calcification of medium-sized arteries Premature occlusive vascular stenosis Erythematous papule Subretinal fluid Peau d'orange Peripapillary chorioretinal atrophy Medial calcification of large arteries Myelin tomacula Increased intramuscular fat Localized skin lesion Coarse facial features Malabsorption Abnormality of the cerebral white matter Corneal opacity Prominent nasal bridge Cough Developmental regression Abnormality of the kidney Abnormality of the nervous system Proteinuria Anxiety Arthritis Arthralgia Anemia Mandibular prognathia Hyperkeratosis Abdominal pain Hyperhidrosis Posteriorly rotated ears Constipation Headache Behavioral abnormality Diarrhea Vomiting Optic atrophy Generalized arterial calcification Arterial calcification Multiple mitochondrial DNA deletions Abnormality of skin pigmentation Redundant skin Hyperextensible skin Cutis laxa Macular degeneration Nephrocalcinosis Blue sclerae Cerebral calcification Abnormality of the skin Gastrointestinal hemorrhage Postural instability Bruising susceptibility Joint hyperflexibility Hemiplegia/hemiparesis Small for gestational age Retinopathy Scarring Reduced visual acuity Visual loss Abnormality of cardiovascular system morphology Blindness Intrauterine growth retardation Myopia High palate Subsarcolemmal accumulations of abnormally shaped mitochondria Acne Cutis marmorata Subcutaneous calcification Pulmonary edema Vascular calcification Civatte bodies Abnormality of connective tissue Renovascular hypertension Angioid streaks of the fundus Retinal hemorrhage Choroidal neovascularization Ectopic calcification Pulmonary insufficiency Excessive wrinkled skin Arterial stenosis Abnormal thrombocyte morphology Hypermelanotic macule Redundant neck skin Abnormality of the cerebral vasculature Mitral stenosis Drusen Thickened nuchal skin fold Abnormality of the mouth Severe intrauterine growth retardation Severe vision loss Striae distensae Chorioretinal atrophy Abnormal retinal morphology Tapering pointed ends of distal finger phalanges



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