Congestive heart failure, and Recurrent fractures

Diseases related with Congestive heart failure and Recurrent fractures

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

Top matches:

Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia.

AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS Is also known as adhr|autosomal dominant hypophosphatemia

Related symptoms:

  • Short stature
  • Muscle weakness
  • Fatigue
  • Congestive heart failure
  • Abnormality of the dentition


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT HYPOPHOSPHATEMIC RICKETS

Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome is a rare, genetic, polymalformative syndrome characterized by progressive, proportionate, asymmetric segmental overgrowth (with soft tissue hypertrophy and ballooning effect) that develops and progresses rapidly in early childhood, arteriovenous and lymphatic vascular malformations, lipomatosis and linear epidermal nevus (arranged in whorls along the lines of Blaschko). Clinical symptoms of Cowden syndrome, such as macrocephaly and progressive development of numerous hypertrophic hamartomatous and neoplastic lesions involving multiple organs and systems, are also associated. Patients present an increased risk of developing cancer.

SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME Is also known as solamen syndrome

Related symptoms:

  • Macrocephaly
  • Congestive heart failure
  • Papule
  • Talipes
  • Recurrent fractures


SOURCES: ORPHANET MENDELIAN

More info about SEGMENTAL OUTGROWTH-LIPOMATOSIS-ARTERIOVENOUS MALFORMATION-EPIDERMAL NEVUS SYNDROME

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

Other less relevant matches:

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

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

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

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

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

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

Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk.

MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS Is also known as namaqualand hip dysplasia|nhd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Congestive heart failure
  • Pneumonia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MILD SPONDYLOEPIPHYSEAL DYSPLASIA DUE TO COL2A1 MUTATION WITH EARLY-ONSET OSTEOARTHRITIS

Top 5 symptoms//phenotypes associated to Congestive heart failure and Recurrent fractures

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Osteoporosis Uncommon - Between 30% and 50% cases
Osteopenia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Scoliosis Growth delay Hearing impairment Respiratory distress Flexion contracture Delayed skeletal maturation Fractures of the long bones Wormian bones Blue sclerae Muscle weakness Hepatomegaly Arrhythmia

Rare Symptoms - Less than 30% cases

Increased susceptibility to fractures Premature birth Recurrent respiratory infections Inguinal hernia Cirrhosis Motor delay Failure to thrive Cardiomyopathy Hernia Fatigue Narrow mouth Abnormal cardiac septum morphology Osteoarthritis Splenomegaly Anemia Oligohydramnios Generalized hypotonia Accelerated skeletal maturation Microretrognathia Patent foramen ovale Meningitis Abnormal facial shape Abnormality of the dentition Multiple prenatal fractures Microcephaly Pathologic fracture Pulmonary arterial hypertension Pneumonia Platyspondyly Abnormality of the foot Abnormality of skin pigmentation Hypertelorism Peripheral neuropathy Abnormal myocardium morphology Arachnodactyly Reduced bone mineral density Congenital diaphragmatic hernia Beaded ribs Cutis laxa Small for gestational age Joint hypermobility Bruising susceptibility Arterial stenosis Talipes Seizures Vertebral compression fractures Pulmonic stenosis Hip dislocation Joint laxity Bone pain Protuberant abdomen Vascular calcification Aseptic necrosis Erlenmeyer flask deformity of the femurs Exertional dyspnea Flank pain Abnormal platelet function Interstitial pulmonary abnormality Arthralgia of the hip Orthopnea Gingival bleeding Spontaneous hematomas Hepatocellular carcinoma Bipolar affective disorder Abnormality of bone marrow cell morphology Increased serum ferritin Hypersplenism Edema of the lower limbs Esodeviation Periorbital edema Supranuclear gaze palsy Generalized osteosclerosis Multiple myeloma Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Heberden's node Hip dysplasia Portal hypertension Pericardial effusion Abnormality of the eye Abnormal bleeding Abdominal distention Ascites Hematuria Lymphadenopathy Abnormality of eye movement Delayed puberty Neurological speech impairment Corneal opacity Proteinuria Parkinsonism Arthritis EEG abnormality Hepatosplenomegaly Dyspnea Abdominal pain Myoclonus Dementia Depressivity Thrombocytopenia Kyphosis Generalized myoclonic seizures Syncope Petechiae Oculomotor apraxia Abnormality of coagulation Increased antibody level in blood Osteomyelitis Menorrhagia Leukocytosis Clubbing Abnormality of the thorax Puberty and gonadal disorders Cholelithiasis Leukopenia Osteolysis Cyanosis Spastic paraparesis Increased bone mineral density Hepatic fibrosis Anorexia Decreased body weight Progressive neurologic deterioration Epistaxis Pancytopenia Apraxia Abnormality of the cardiovascular system Biliary tract obstruction Talipes equinovarus Decreased beta-glucocerebrosidase protein and activity Congenital glaucoma Hip osteoarthritis Overlapping fingers Abnormally large globe Upper limb undergrowth Hip pain Aortic root aneurysm Narrow nasal bridge Restrictive ventilatory defect Thoracic hypoplasia 11 pairs of ribs Bilateral talipes equinovarus Metatarsus adductus Spondyloepiphyseal dysplasia Radioulnar synostosis Hyperextensible skin Bicuspid aortic valve Sandal gap Joint dislocation Elbow flexion contracture Beaking of vertebral bodies Generalized osteoporosis Rhizomelia Arthropathy Pain Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Shoulder dislocation Small face Irregular vertebral endplates Multiple joint dislocation Talipes equinovalgus Knee dislocation Exostoses Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease Lymphedema Amblyopia Hematological neoplasm Frontal bossing Abnormal heart morphology Midface retrusion Knee osteoarthritis Hydrocephalus Short neck Anteverted nares Joint stiffness Ventricular septal defect Downslanted palpebral fissures Brachycephaly Fever Wide nasal bridge Depressed nasal bridge Low-set ears Cleft palate Muscular hypotonia Micrognathia Horizontal supranuclear gaze palsy Cardiac valve calcification Prominent forehead Glaucoma Left ventricular hypertrophy Thick eyebrow Abnormal lung morphology Mitral regurgitation Low posterior hairline Cardiomegaly Mitral valve prolapse Microdontia Webbed neck Esotropia Short metacarpal Flat face Cerebral cortical atrophy Genu valgum Narrow chest Hypermetropia Microtia Pectus carinatum Pes planus Kyphoscoliosis Morphological abnormality of the central nervous system Proptosis Diarrhea Prominent supraorbital ridges Myopia Convex nasal ridge Tibial bowing Metaphyseal widening Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Large fontanelles Bowing of the long bones Thin skin Coarctation of aorta Respiratory insufficiency Pulmonary insufficiency Cataract Diaphragmatic eventration Muscle fiber atrophy Secundum atrial septal defect Axonal loss Generalized amyotrophy Increased variability in muscle fiber diameter Neonatal respiratory distress Nonimmune hydrops fetalis Lens luxation Congenital contracture Pectus excavatum Overgrowth Vesicoureteral reflux Full cheeks Hemolytic anemia Joint hyperflexibility Umbilical hernia Arthralgia Hypothyroidism Hypospadias Broad long bones Dilatation Hypertension Ptosis Cryptorchidism Sensorineural hearing impairment Absent ossification of calvaria Crumpled long bones Abnormality of calvarial morphology Spinal muscular atrophy Severe muscular hypotonia Recurrent urinary tract infections Hamartoma Lymphangioma Neoplasm of the breast Excessive wrinkled skin Visceral angiomatosis Venous insufficiency Lower limb asymmetry Arteriovenous malformation Ovarian neoplasm Hemiplegia/hemiparesis Neoplasm of the thyroid gland Subcutaneous nodule Papule Macrocephaly Hyperphosphaturia Abnormality of the respiratory system Spinal canal stenosis Osteomalacia Hypophosphatemia Upper limb asymmetry Constipation Hypohidrosis Skeletal muscle atrophy Decreased fetal movement Pulmonary hypoplasia Peripheral axonal neuropathy Arthrogryposis multiplex congenita Respiratory failure Areflexia Patent ductus arteriosus Dysphagia High palate Skeletal dysplasia Dentinogenesis imperfecta Soft skin Thin ribs Agenesis of permanent teeth Prolonged bleeding time Reduced number of teeth Spontaneous abortion Micromelia Conductive hearing impairment Bilateral sensorineural hearing impairment Abnormality of the face Cognitive impairment Polycystic ovaries Spinal rigidity Lipoatrophy Skeletal muscle hypertrophy Large hands Lipodystrophy Hyperinsulinemia Precocious puberty Pyloric stenosis Atherosclerosis Secondary amenorrhea Acanthosis nigricans Pancreatitis Generalized hirsutism Muscle stiffness Abnormality of the hair Bradycardia Insulin resistance Thickened skin Glomerulopathy IgA deficiency Myocardial infarction Dysmenorrhea Spasticity Strabismus Ataxia Abnormality of skeletal muscle fiber size Congenital generalized lipodystrophy Abnormal levels of creatine kinase in blood Abnormal oral cavity morphology Atlantoaxial dislocation Loss of subcutaneous adipose tissue in limbs Growth hormone excess Prolonged QTc interval Generalized lipodystrophy Bone cyst Exercise-induced myalgia Prominent superficial veins Broad foot Oligomenorrhea Progressive proximal muscle weakness Palpitations Atrial fibrillation Shock Premature skin wrinkling Congenital hemolytic anemia Vascular tortuosity Dermal translucency Ascending tubular aorta aneurysm Ileus Bladder diverticulum Cor pulmonale Atelectasis Pulmonary artery stenosis Arterial fibromuscular dysplasia Shawl scrotum Prematurely aged appearance Progressive sensorineural hearing impairment Delayed cranial suture closure Emphysema Epiphyseal dysplasia Aortic aneurysm Redundant skin Supravalvular aortic stenosis Bowel diverticulosis Hypertriglyceridemia Hypertrophic cardiomyopathy Ventricular hypertrophy Epidermal acanthosis Growth hormone deficiency Hepatic steatosis Nephropathy Hirsutism Hepatic failure Hyperlordosis Myalgia Renal diverticulum Elevated hepatic transaminase Mandibular prognathia Diabetes mellitus Hyperhidrosis Recurrent infections Immunodeficiency Renal insufficiency Myopathy Ventriculomegaly Schmorl's node


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