Congestive heart failure, and Pes planus

Diseases related with Congestive heart failure and Pes planus

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

Top matches:

CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

High match CAP MYOPATHY

Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP MYOPATHY

Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

Other less relevant matches:

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

High match FRIEDREICH ATAXIA

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

High match TEMTAMY SYNDROME

Temtamy syndrome is a very rare congenital genetic neurological disorder characterized by agenesis/hypoplasia of corpus callosum with developmental abnormalities, ocular disorders, and variable craniofacial and skeletal abnormalities.

TEMTAMY SYNDROME Is also known as temtamy-shalash syndrome|craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome|mental retardation with or without craniofacial dysmorphism, ocular coloboma, or abnormal corpus callosum

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about TEMTAMY SYNDROME

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

A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.

CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME Is also known as martsolf syndrome|cataract-mental retardation-hypogonadism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME

Atypical Werner syndrome refers to a heterogeneous group of cases that are clinically diagnosed as Werner syndrome (WS; see this term) but do not carry WRN gene mutations. Similar to classical WS caused by WRN mutations, patients generally exhibit an aged appearance and common age-related disorders at earlier ages compared to the general population.

ATYPICAL WERNER SYNDROME Is also known as atypical progeroid syndrome

Related symptoms:

  • Short stature
  • Failure to thrive
  • Micrognathia
  • Hypertension
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL WERNER SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Pes planus

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Pectus excavatum Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
Mitral valve prolapse Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscle weakness Short stature Flexion contracture Long face Talipes equinovarus Myopathy Motor delay Micrognathia Kyphosis Hyperlordosis Pectus carinatum Downslanted palpebral fissures Optic atrophy Ptosis Aortic root aneurysm Dilatation Abnormality of the skeletal system Long philtrum Depressed nasal bridge Low-set ears Epicanthus Cataract Respiratory insufficiency Cryptorchidism Narrow face Joint hyperflexibility Talipes Respiratory distress Short palm Spasticity Pes cavus Intellectual disability Visual impairment Peripheral neuropathy Peripheral axonal neuropathy Kyphoscoliosis Thoracic scoliosis Myopia Dolichocephaly Aortic regurgitation Microcornea Polyneuropathy Lumbar hyperlordosis Aortic aneurysm Joint laxity Dental crowding Esotropia

Rare Symptoms - Less than 30% cases

Hyperextensible skin Heart murmur Disproportionate tall stature Slender finger Aortic dissection Pain Nystagmus Prematurely aged appearance Hearing impairment Genu recurvatum Megalocornea Hypoplasia of the maxilla Hypogonadism Single transverse palmar crease Everted lower lip vermilion Tall stature Dural ectasia Malar flattening Decreased body weight Low-set, posteriorly rotated ears Rocker bottom foot Inguinal hernia Congenital cataract Clinodactyly of the 5th finger Gait disturbance Diabetes mellitus Thin skin Arachnodactyly Convex nasal ridge Microphthalmia Intellectual disability, severe Ventriculomegaly Short toe Lens luxation Edema Hernia Osteoporosis Glaucoma Global developmental delay Hammertoe Cardiomyopathy Insulin resistance Joint hypermobility Chest pain Retinal detachment Unsteady gait Abnormal pyramidal sign Overgrowth Gait ataxia Cerebral cortical atrophy Arrhythmia Visual loss Abnormality of cardiovascular system morphology Intellectual disability, moderate Dysphagia Retrognathia Sinus tachycardia Congenital muscular dystrophy Facial palsy Easy fatigability Decreased fetal movement Lower limb muscle weakness Reduced tendon reflexes Thoracic kyphosis Muscle stiffness Difficulty running Decreased muscle mass Muscular hypotonia Poor head control Reduced systolic function Failure to thrive Knee flexion contracture Sensory impairment Generalized muscle weakness Falls Hypertelorism Hip dysplasia Difficulty climbing stairs Generalized amyotrophy Strabismus Increased variability in muscle fiber diameter Frequent falls Lower limb amyotrophy Restrictive ventilatory defect Microretrognathia Large for gestational age Hypoplasia of the iris Emphysema Subarachnoid hemorrhage Open bite Meningocele Abnormality of the sternum Spondylolisthesis Reduced subcutaneous adipose tissue Dilatation of the cerebral artery Arachnoid cyst Striae distensae Obstructive sleep apnea Pulmonary edema Abnormality of the dentition Low back pain Cystic medial necrosis Cerebral atrophy Growth delay Microcephaly Inferior oblique muscle overaction Medial rotation of the medial malleolus Mitral annular calcification Pulmonary artery dilatation Incisional hernia Increased axial length of the globe Anisometropia Overjet Spontaneous pneumothorax Microspherophakia Homocystinuria Hypertropia Flat cornea Hypopnea Premature osteoarthritis Protrusio acetabuli Tricuspid valve prolapse Endocarditis Thoracic aortic aneurysm Overbite Ascending tubular aorta aneurysm Hypoplasia of the musculature Pneumothorax Epiphora Elbow flexion contracture Congenital contracture Soft skin Premature rupture of membranes Palmoplantar cutis laxa Arterial dissection Keloids Thoracic kyphoscoliosis Subcutaneous hemorrhage Bladder diverticulum Generalized joint laxity Multiple joint contractures Atypical scarring of skin Keratoconus Moderate myopia High pitched voice Abnormality of the hip bone Atrophic scars Spinal rigidity Intracranial hemorrhage Corneal dystrophy Torticollis Spina bifida occulta Joint dislocation Hyperbilirubinemia Increased body weight Wrist drop Decreased pulmonary function Ectopia lentis Cardiomegaly Redundant skin Back pain Sleep apnea Narrow palate Spontaneous abortion Encephalopathy Exotropia Amblyopia Delayed gross motor development Abnormal lung morphology Mitral regurgitation Abnormality of the cardiovascular system Arterial rupture Dental malocclusion High, narrow palate Stroke Apnea Camptodactyly Deeply set eye Gastroesophageal reflux Clinodactyly Progressive congenital scoliosis Spontaneous rupture of the globe Molluscoid pseudotumors Midface retrusion Micropenis Hyporeflexia Decreased fertility Progeroid facial appearance Fragile nails Neoplasm of the lung Insulin-resistant diabetes mellitus Secondary amenorrhea Ovarian neoplasm Sparse body hair Telangiectasia of the skin Glycosuria Aplasia/Hypoplasia of the skin Lipoatrophy Aplasia/Hypoplasia of the eyebrow Osteolytic defects of the phalanges of the hand Coronary artery atherosclerosis Premature graying of hair Calf muscle hypertrophy Hyperglycemia Abnormality of the thorax Premature ovarian insufficiency Abnormality of the voice Hyperinsulinemia Laryngomalacia Reduced bone mineral density Neoplasm of the skin Finger clinodactyly Meningioma Renal neoplasm Abnormality of the hair Aortic valve calcification Sclerosis of hand bone Patchy hypo- and hyperpigmentation Progressive clavicular acroosteolysis Neoplasm of the oral cavity Premature arteriosclerosis Intervertebral disc degeneration Neoplasm of the thyroid gland Subcutaneous calcification Neoplasm of the small intestine Abnormality of the Achilles tendon Abnormal hair whorl Fasting hyperinsulinemia Neoplasm of the breast Osteosarcoma Generalized lipodystrophy Abnormal hair quantity Abnormality of the pulmonary artery White forelock Exercise-induced myalgia Chondrocalcinosis Prominent superficial veins Lack of skin elasticity Abnormality of the testis Pili torti Peripheral arterial stenosis Abnormality of the cerebral vasculature Increased bone mineral density Aortic valve stenosis Recurrent respiratory infections Growth hormone deficiency Abnormality of the hand Abnormal dermatoglyphics Intellectual disability, progressive Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Cardiac arrest Clonus Short phalanx of finger Postnatal microcephaly Low posterior hairline Hypotelorism Short metacarpal Bilateral cryptorchidism Broad nasal tip Polymicrogyria Mandibular prognathia Severe global developmental delay Short philtrum Postnatal growth retardation Feeding difficulties in infancy Muscular hypotonia of the trunk Spina bifida Brachycephaly Posteriorly rotated ears Severe short stature Epiphyseal dysplasia Metatarsus adductus Skin ulcer Hypertension Abnormality of retinal pigmentation Hypertriglyceridemia Type II diabetes mellitus Limitation of joint mobility Hepatic steatosis Thin vermilion border Retinal degeneration Delayed puberty Hypotrichosis Hyperkeratosis Alopecia Skeletal muscle atrophy Slender ulna Spastic diplegia Prominent nipples Prominent antitragus Broad fingertip Osteopathia striata Abnormality of the distal phalanx of finger Talipes valgus Furrowed tongue Misalignment of teeth Abnormal toenail morphology Abnormality of the antihelix Tracheomalacia Ulnar deviation of finger Recurrent pneumonia Bruising susceptibility Joint contracture of the hand Peripheral demyelination Spastic gait Limb ataxia Lower limb spasticity Left ventricular hypertrophy Involuntary movements Clumsiness Palpitations Atrial fibrillation Intention tremor Ventricular hypertrophy Optic disc pallor Chorea Truncal ataxia Distal muscle weakness Progressive cerebellar ataxia Abnormal cerebellum morphology Neurodegeneration Sensory neuropathy Inability to walk Tachycardia Muscular dystrophy Vertigo Arthrogryposis multiplex congenita Dysmetria Proximal muscle weakness Paraparesis Abnormality of eye movement Abnormal EKG Gait imbalance Spinocerebellar tract degeneration Hyposmia Areflexia of lower limbs Myocardial fibrosis Increased reactive oxygen species production Ketoacidosis Urinary bladder sphincter dysfunction Ketosis Heart block Abnormality of visual evoked potentials Optic neuropathy Spastic paraparesis Hyperactive deep tendon reflexes Visual field defect Glucose intolerance Decreased motor nerve conduction velocity Sensory axonal neuropathy Impaired vibratory sensation Dysdiadochokinesis Cachexia Incoordination Slurred speech Ventricular arrhythmia Abnormality of movement Abnormality of the foot Asymmetric septal hypertrophy Shoulder girdle muscle atrophy Nemaline bodies Shawl scrotum Broad palm Distal lower limb amyotrophy Round face Distal lower limb muscle weakness Delayed eruption of teeth Slender build Short foot Myokymia Small hand Oral cleft Broad foot Cleft upper lip Finger syndactyly Broad forehead Attention deficit hyperactivity disorder Camptodactyly of finger Cleft palate Umbilical hernia Cognitive impairment Wide nasal bridge Anteverted nares Short neck External ear malformation Facial diplegia Limb muscle weakness Depressivity Dilated cardiomyopathy Narrow chest Pallor Hypertrophic cardiomyopathy Difficulty walking Reduced visual acuity Hyperactivity Waddling gait Babinski sign Areflexia Open mouth Dystonia High anterior hairline Cerebellar atrophy Progressive muscle weakness Fatigue Respiratory insufficiency due to muscle weakness Dysarthria EMG: myopathic abnormalities Myopathic facies Centrally nucleated skeletal muscle fibers Neck muscle weakness Ataxia Abnormal vertebral segmentation and fusion Abnormality of the cervical spine Impaired proprioception Subvalvular aortic stenosis Right ventricular hypertrophy Abnormal palate morphology Colpocephaly Profound global developmental delay Hypoplasia of teeth Neurogenic bladder Congenital nystagmus Bowing of the legs Unilateral renal agenesis Chorioretinal coloboma Relative macrocephaly Genu varum Aplasia/Hypoplasia of the corpus callosum Short chin Lop ear Nasal speech Thick lower lip vermilion Intellectual disability, profound Bilateral sensorineural hearing impairment Progressive visual loss Gowers sign Renal agenesis Toe walking Prominent nose Highly arched eyebrow Iris coloboma Short upper lip Scleral staphyloma Hip dislocation Nocturnal hypoventilation Restrictive deficit on pulmonary function testing Blue sclerae High myopia Oligohydramnios Axial muscle weakness Gastrointestinal hemorrhage Sepsis Abnormal bleeding Muscle fiber atrophy Right ventricular failure Behavioral abnormality Increased muscle lipid content Short 2nd toe Retinopathy Limited neck flexion Neonatal hypotonia Osteopenia Weakness of facial musculature Intermittent episodes of respiratory insufficiency due to muscle weakness Prominent forehead Absent muscle fiber merosin Abnormality of metabolism/homeostasis Blindness Posterior staphyloma Facial asymmetry Corneal opacity T-wave inversion Abnormality of the autonomic nervous system Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Incomprehensible speech Impaired visually enhanced vestibulo-ocular reflex Upper limb amyotrophy Cerebellar cortical atrophy Concentric hypertrophic cardiomyopathy Diabetic ketoacidosis Decreased sensory nerve conduction velocity Hand muscle atrophy Abnormal saccadic eye movements Abnormality of cardiovascular system physiology Positive Romberg sign Abnormal echocardiogram Poor fine motor coordination Structural foot deformity Atrophic superior cerebellar peduncle Coloboma Pes valgus Mental deterioration Telecanthus Hydronephrosis Coarse facial features Autism Agenesis of corpus callosum Abnormal heart morphology Patent ductus arteriosus Absent speech Central hypoventilation Intellectual disability, mild Atrial septal defect Dyspnea Hypoplasia of the corpus callosum Ventricular septal defect Abnormality of muscle fibers Frontal bossing Macrocephaly Brachydactyly Fatiguable weakness of proximal limb muscles Abnormal facial shape Sensorineural hearing impairment Hypertonia Respiratory failure Seizures Abnormality of circulating leptin level


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