Congestive heart failure, and Blue sclerae

Diseases related with Congestive heart failure and Blue sclerae

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Blue sclerae 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 OSTEOGENESIS IMPERFECTA TYPE 2


Osteogenesis imperfecta type II is a lethal type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures. Patients with type II present multiple rib and long bone fractures at birth, marked deformities, broad long bones, low density on skull X-rays, and dark sclera.

OSTEOGENESIS IMPERFECTA TYPE 2 Is also known as osteogenesis imperfecta congenita, perinatal lethal form|osteogenesis imperfecta congenita|oi type 2|lethal osteogenesis imperfecta|oi, type ii|oic|vrolik type of osteogenesis imperfecta

Related symptoms:

  • Microcephaly
  • Cataract
  • Respiratory insufficiency
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA TYPE 2

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

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Other less relevant matches:

High match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

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

High match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

High match LARSEN-LIKE SYNDROME, B3GAT3 TYPE


Larsen-like syndrome, B3GAT3 type is a rare, genetic, primary bone dysplasia characterized by laxity, dislocations and contractures of the joints, short stature, foot deformities (e.g. clubfeet), broad tips of fingers and toes, short neck, dysmorphic facial features (hypertelorism, downslanting palpebral fissures, upturned nose with anteverted nares, high arched palate) and various cardiac malformations. Severe disease is associated with multiple fractures, osteopenia, arachnodactyly and blue sclerae. A broad spectrum of additional features, including scoliosis, radio-ulnar synostosis, mild developmental delay, and various eye disorders (glaucoma, amblyopia, hyperopia, astigmatism, ptosis), are also reported.

LARSEN-LIKE SYNDROME, B3GAT3 TYPE Is also known as multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome|larsen syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LARSEN-LIKE SYNDROME, B3GAT3 TYPE

Low match CARNEY COMPLEX


Carney complex (CNC) is characterized by spotty skin pigmentation, endocrine overactivity and myxomas.

CARNEY COMPLEX Is also known as myxoma-spotty pigmentation-endocrine overactivity syndrome|carney syndrome|carney myxoma-endocrine complex, type 2

Related symptoms:

  • Neoplasm
  • Congestive heart failure
  • Stroke
  • Hirsutism
  • Sudden cardiac death


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARNEY COMPLEX

Low match LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Low match PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1


This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

Top 5 symptoms//phenotypes associated to Congestive heart failure and Blue sclerae

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Muscular hypotonia Flexion contracture Edema Growth delay Visual impairment Myopia Retinopathy Generalized hypotonia Dilatation Cataract Skin rash Mitral valve prolapse Hypermelanotic macule Glaucoma Hyperextensible skin Bruising susceptibility Wormian bones Hepatomegaly Recurrent fractures Small for gestational age Pain

Rare Symptoms - Less than 30% cases


Micrognathia Hyperhidrosis Cerebral cortical atrophy Erythema Finger syndactyly Proptosis Camptodactyly of finger Corneal opacity Spina bifida occulta Abnormal chorioretinal morphology Microphthalmia Sandal gap Gait disturbance Brachycephaly Fever Radioulnar synostosis Failure to thrive Elevated hepatic transaminase Upper limb undergrowth Abnormality of the liver Retinal hemorrhage Severe intrauterine growth retardation Telangiectasia of the skin Multiple lipomas Chorioretinal atrophy Hemiplegia/hemiparesis Muscle weakness Low-set ears Cryptorchidism Kyphoscoliosis Hearing impairment Cleft palate Hypertelorism Elbow flexion contracture Aortic root aneurysm Abnormally large globe Joint dislocation Esotropia Polyneuropathy Arachnodactyly Talipes Pectus carinatum Joint laxity Pes planus Osteoporosis Neoplasm Prominent forehead Inguinal hernia Hernia Intracranial hemorrhage Myopathy Respiratory distress Talipes equinovarus Motor delay Cardiomegaly Downslanted palpebral fissures Depressed nasal bridge Short neck Intellectual disability, mild Thrombocytopenia Abnormality of metabolism/homeostasis Retinal detachment Scarring Soft skin Beaded ribs Gastrointestinal hemorrhage Abnormality of cardiovascular system morphology Sudden cardiac death Microcephaly Respiratory insufficiency Myocardial infarction Visual loss Blindness Cardiomyopathy Intrauterine growth retardation Hypertension High palate Abnormality of skin pigmentation Subcutaneous nodule Stroke Joint hypermobility Pulmonary insufficiency Lens luxation Cutis laxa Bowing of the long bones Thin skin Premature birth Joint hyperflexibility Mitral regurgitation Generalized osteoporosis Small face 11 pairs of ribs Overlapping fingers Elevated erythrocyte sedimentation rate Thoracic hypoplasia Narrow nasal bridge Microcytic anemia Restrictive ventilatory defect Congenital glaucoma Bilateral talipes equinovarus Metatarsus adductus Spondyloepiphyseal dysplasia Patent foramen ovale Bicuspid aortic valve Accelerated skeletal maturation Deep palmar crease Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Endocardial fibroelastosis Long fingers Lipodystrophy Growth hormone excess Glucose intolerance Ovarian neoplasm Colon cancer Increased antibody level in blood Polycystic ovaries Neoplasm of the skin Cafe-au-lait spot Nevus Hirsutism Bilateral elbow dislocations Abnormality of the abdominal wall Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Microretrognathia Talipes equinovalgus Knee dislocation Lumbar scoliosis Multiple joint dislocation Left ventricular hypertrophy Basal ganglia calcification Stiff skin Abnormal heart morphology Midface retrusion Hydrocephalus Anteverted nares Ventricular septal defect Frontal bossing Panniculitis Episcleritis Wide nasal bridge Abnormal facial shape Premature separation of centromeric heterochromatin Midface capillary hemangioma Narrow mouth Tetraphocomelia Mesomelic arm shortening Progressive flexion contractures Absent earlobe Facial hemangioma Complete duplication of thumb phalanx Aplasia of the ulna Wrist flexion contracture Humeroradial synostosis Phocomelia Finger swelling Long penis Delayed skeletal maturation Abnormal cardiac septum morphology Meningitis Congenital diaphragmatic hernia Lymphedema Rhizomelia Amblyopia Growth abnormality Abnormal lung morphology Low posterior hairline Rimmed vacuoles Myositis Clubbing of fingers Immune dysregulation Generalized lipodystrophy Flexion contracture of toe Hypochromic anemia Microtia Microdontia Webbed neck Short metacarpal Erythema nodosum Thick eyebrow Flat face Genu valgum Abnormality of the foot Pulmonic stenosis Narrow chest Hypermetropia Hip dislocation Increased circulating cortisol level Thick lower lip vermilion Conjunctivitis Splenomegaly Hypopigmentation of the skin Coma Metabolic acidosis Hepatic steatosis Retinal dystrophy Hepatic failure Nausea Peripheral axonal neuropathy Dilated cardiomyopathy Nyctalopia Hypertrophic cardiomyopathy Hypoglycemia Peripheral demyelination Photophobia Jaundice Abdominal pain Elevated serum creatine phosphokinase Vomiting Macrocephaly Peripheral neuropathy Feeding difficulties Recurrent infections Arrhythmia Intra-oral hyperpigmentation Brain atrophy Pigmentary retinopathy Abnormality of circulating adrenocorticotropin level Reduced consciousness/confusion Reye syndrome-like episodes Acute hepatic steatosis Abnormality of acid-base homeostasis Elevated plasma acylcarnitine levels Gastrointestinal inflammation Hepatic encephalopathy 3-hydroxydicarboxylic aciduria Anemia Skeletal muscle atrophy Abnormal left ventricle morphology Decreased plasma carnitine Cholestatic liver disease Anorexia Hypoketotic hypoglycemia Recurrent hypoglycemia Preeclampsia Rhabdomyolysis Loss of consciousness Abnormal electroretinogram Tachypnea Hypocalcemia Sensorimotor neuropathy Decreased liver function Abnormality of retinal pigmentation Exotropia Babinski sign Thyroid follicular hyperplasia Lymphopenia Thyroid carcinoma Testicular neoplasm Pituitary prolactin cell adenoma Neoplasm of the breast Enlarged polycystic ovaries Multiple lentigines Schwannoma Red hair Hypoplasia of the musculature Stomach cancer Ovarian cyst Parathyroid adenoma Neoplasm of the endocrine system Thyroid adenoma Lymphadenopathy Inability to walk Pituitary adenoma Macroglossia Prominent nose Posterior staphyloma Prolactin excess Hypertriglyceridemia Neoplasm of the pancreas Hyperpigmentation of the skin Bone pain Adrenocortical carcinoma Pancreatic adenocarcinoma Sertoli cell neoplasm Pigmented micronodular adrenocortical disease Macrotia Arthralgia Pigmentation of the sclera Abnormal pigmentation of the oral mucosa Peripheral Schwannoma Hepatosplenomegaly Arthritis Profuse pigmented skin lesions Patellar aplasia Blue nevus Hepatocellular adenoma Cardiac myxoma Osteochondroma Histiocytoma Bronchogenic cyst Uterine neoplasm Hypertension associated with pheochromocytoma Nodular goiter Vestibular Schwannoma Fibroadenoma of the breast Increased urinary cortisol level Adrenal pheochromocytoma Pituitary growth hormone cell adenoma Abnormal prolactin level Recurrent paroxysmal headache Subvalvular aortic stenosis Nystagmus Abnormality of the upper limb Abnormal endocardium morphology Hyperkeratotic papule Arterial calcification Subcutaneous calcification Vascular calcification Accelerated atherosclerosis Civatte bodies Abnormality of connective tissue Renovascular hypertension Metamorphopsia Angioid streaks of the fundus Intermittent claudication Choroidal neovascularization Generalized arterial calcification Ectopic calcification Excessive wrinkled skin Arteriosclerosis Arterial stenosis Pulmonary edema Abnormal mitral valve morphology Abnormal thrombocyte morphology Redundant neck skin Restrictive cardiomyopathy Lack of skin elasticity Angina pectoris Localized skin lesion Medial calcification of large arteries Abnormality of the cerebral vasculature Attention deficit hyperactivity disorder Osteolysis Abnormality of the fingernails Abnormality of dental enamel Abnormality of the nail Abnormality of the hair Skin ulcer Pulmonary arterial hypertension Abnormal blistering of the skin Hypodontia Delayed eruption of teeth Oral cleft Umbilical hernia Peripapillary chorioretinal atrophy Hyperkeratosis Alopecia Cognitive impairment Spasticity Strabismus 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 Peripheral arterial stenosis Mitral stenosis Eosinophilia Abnormality of the dentition Nonimmune hydrops fetalis Tibial bowing Metaphyseal widening Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Large fontanelles Coarctation of aorta Convex nasal ridge Platyspondyly Pneumonia Fractures of the long bones Broad long bones Dentinogenesis imperfecta Vertebral compression fractures Thin ribs Agenesis of permanent teeth Prolonged bleeding time Reduced number of teeth Spontaneous abortion Micromelia Conductive hearing impairment Skeletal dysplasia Constipation Multiple prenatal fractures Abnormality of calvarial morphology Drusen Ischemic stroke Thickened nuchal skin fold Abnormality of the mouth Severe vision loss Striae distensae Abnormal retinal morphology Coronary artery atherosclerosis Cutis marmorata Tricuspid regurgitation Acne Abnormality of the thorax Redundant skin Atherosclerosis Crumpled long bones Macular degeneration Nephrocalcinosis Abnormality of the cardiovascular system Cerebral calcification Abnormality of the skin Postural instability Pruritus Papule Hypothyroidism Reduced visual acuity Renal insufficiency Absent ossification of calvaria Hypopigmented skin patches Encephalitis Fair hair Progressive congenital scoliosis Sparse hair Craniosynostosis Paralysis Postnatal growth retardation Retrognathia Polyhydramnios Posteriorly rotated ears Clinodactyly of the 5th finger Clinodactyly Malar flattening Brachydactyly Spontaneous rupture of the globe Hypotrichosis Molluscoid pseudotumors Arterial rupture Decreased pulmonary function Moderate myopia Wrist drop Premature rupture of membranes Palmoplantar cutis laxa Arterial dissection Dural ectasia Keloids Thoracic kyphoscoliosis Prominent nasal bridge Cleft upper lip Bladder diverticulum Proximal placement of thumb Low hanging columella Capillary hemangioma External ear malformation Synostosis of carpal bones Underdeveloped supraorbital ridges Absent radius Hip contracture Aplasia/Hypoplasia of the thumb Absent thumb Short femoral neck Radial deviation of finger Clitoral hypertrophy Falls Polycystic kidney dysplasia Hypoplasia of the radius Melanoma Hemangioma Opacification of the corneal stroma Knee flexion contracture Bilateral single transverse palmar creases Aortic valve stenosis Short thumb Hemiparesis Underdeveloped nasal alae Chest pain Subcutaneous hemorrhage Generalized joint laxity Abnormality of dental morphology Asymmetric growth Dolichocephaly Hyperlordosis Neonatal hypotonia Pectus excavatum Kyphosis Epicanthus Retinal vascular proliferation Broad nail Abnormal hand morphology Ridged fingernail Absent hand Supernumerary ribs Single transverse palmar crease Deviation of finger Cerebral ischemia Verrucae Hypoplastic fingernail Dystrophic toenail Abnormal toenail morphology Hearing abnormality Uveitis Irregular hyperpigmentation Abnormality of immune system physiology Supernumerary nipple Keratitis Unsteady gait Microcornea Aortic dissection Hyperbilirubinemia Atypical scarring of skin Keratoconus Slender finger Abnormality of the hip bone Atrophic scars Disproportionate tall stature Heart murmur Aortic aneurysm Corneal dystrophy Aortic regurgitation Torticollis Increased body weight Generalized muscle weakness Recurrent pneumonia Spina bifida Joint contracture of the hand Insulin resistance Tall stature Dental crowding High myopia Decreased fetal movement Oligohydramnios Overgrowth Sepsis Abnormal bleeding Adipose tissue loss



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Distal muscle weakness, related diseases and genetic alterations Arthritis and Severe short stature, related diseases and genetic alterations

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