Congestive heart failure, and Tapered finger

Diseases related with Congestive heart failure and Tapered finger

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

Top matches:

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

The proximal 16p11.2 microdeletion syndrome is a chromosomal anomaly characterized by developmental and language delays, mild intellectual disability, social impairments (autism spectrum disorders), mild variable dysmorphism and predisposition to obesity.

PROXIMAL 16P11.2 MICRODELETION SYNDROME Is also known as proximal del(16)(p11.2)|proximal monosomy 16p11.2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PROXIMAL 16P11.2 MICRODELETION SYNDROME

Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Other less relevant matches:

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Autosomal recessive centronuclear myopathy (AR-CNM) is an inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.

AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY Is also known as myopathy, centronuclear, autosomal recessive|myotubular myopathy, autosomal recessive|ar-cnm

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE CENTRONUCLEAR MYOPATHY

Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

This syndrome is characterized by the association of dilated cardiomyopathy and hypergonadotropic hypogonadism (DCM-HH).

DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as cardiomyopathy, dilated, with premature ovarian failure|genital anomaly with cardiomyopathy|najjar syndrome|cardiomyopathy, congestive, with hypergonadotropic hypogonadism|cardiogenital syndrome|cardiomyopathy with primary testicular failure|malouf syndro

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Cryptorchidism
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

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

Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features (summary by Isrie et al., 2015). Genetic Heterogeneity of Congenital Symmetric Circumferential Skin CreasesCSCSC2 (OMIM ) is caused by mutation in the MAPRE2 gene (OMIM ) on chromosome 18q12.

MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS Is also known as congenital circumferential skin folds|skin creases, multiple benign ring-shaped, of limbs|kunze-riehm syndrome|ccsf|circumferential skin creases, kunze type|michelin tire baby syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS

Top 5 symptoms//phenotypes associated to Congestive heart failure and Tapered finger

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Intellectual disability, mild Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Cryptorchidism Inguinal hernia Generalized hypotonia Abnormal facial shape Arachnodactyly High palate Microcephaly Muscular hypotonia Motor delay Delayed speech and language development Macrotia Full cheeks Cognitive impairment Ptosis Feeding difficulties Short stature Strabismus Ventriculomegaly Hypertension Hypertelorism Dilatation Arrhythmia Cardiomyopathy Respiratory insufficiency Dilated cardiomyopathy Wide nasal bridge Abnormality of the face Micrognathia Growth delay Cutis laxa Myopia Skeletal muscle atrophy Macrocephaly Bilateral ptosis Epicanthus Kyphosis Depressed nasal bridge Pectus excavatum Muscle weakness Hearing impairment Psychosis Joint hyperflexibility Osteoporosis Blepharophimosis Micropenis Narrow mouth Hernia Short nose Abnormality of the pinna Redundant skin Posteriorly rotated ears Respiratory distress Respiratory failure Low-set ears Flexion contracture Oligohydramnios Cardiomegaly Feeding difficulties in infancy Neonatal hypotonia

Rare Symptoms - Less than 30% cases

Hip dislocation Aortic aneurysm Hip dysplasia Fever Prematurely aged appearance Talipes equinovarus Pyloric stenosis Pulmonary artery stenosis Long face Specific learning disability Narrow palpebral fissure Umbilical hernia Congenital diaphragmatic hernia Arterial stenosis High forehead Small hand Flat face Recurrent respiratory infections Hypoglycemia Attention deficit hyperactivity disorder Upslanted palpebral fissure Wide mouth Hypogonadism Myopathy Sensorineural hearing impairment Prominent forehead Wide nose Sleep apnea Large hands Microtia Cataract Coxa valga Abnormality of the skin Emphysema Mitral regurgitation Thick lower lip vermilion Lipodystrophy Tricuspid regurgitation Acrocyanosis Arthralgia Dyspnea Severe global developmental delay Protruding ear Hyperlordosis Telecanthus Hepatomegaly Intellectual disability, severe Long fingers Hypoplasia of the corpus callosum Abnormality of the skeletal system Fatigue Hypospadias Precocious puberty Retrognathia Edema Hyperactivity Malar flattening Gastroesophageal reflux Narrow palate Delayed puberty Cleft palate Overfolded helix Intrauterine growth retardation Anteverted nares Short neck Behavioral abnormality Spontaneous abortion Amenorrhea Polymicrogyria Wide intermamillary distance Febrile seizures Short palpebral fissure Apnea Obesity Scrotal hypoplasia Osteopenia Autism Cor pulmonale Hypothermia Microphthalmia EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Central adrenal insufficiency Lipoatrophy Microcytic anemia Hypoplastic labia minora Splenomegaly Hyperhidrosis Poor fine motor coordination Psychotic episodes Narrow palm Axial muscle weakness Joint stiffness Type 1 muscle fiber predominance Facial diplegia Difficulty running Hip contracture Centrally nucleated skeletal muscle fibers Hypopnea Arthrogryposis multiplex congenita Temperature instability Erysipelas Elevated erythrocyte sedimentation rate Increased antibody level in blood Anteverted ears Clitoral hypoplasia Right bundle branch block Hyperostosis Frontal upsweep of hair Almond-shaped palpebral fissure Abnormal pyramidal sign Subcutaneous nodule Disseminated intravascular coagulation Prominent nose Macroglossia Lymphadenopathy Triangular mouth Abdominal obesity Skin rash Abnormal heart valve morphology Myeloid leukemia Decreased muscle mass Areflexia Waddling gait Bifid uvula Generalized muscle weakness Iris hypopigmentation Ophthalmoplegia Hypoventilation Hypopigmentation of hair Pulmonary embolism Distal muscle weakness Progressive muscle weakness Facial palsy Polyphagia Proximal muscle weakness Pes cavus Striae distensae Difficulty walking Narrow nasal bridge Impaired pain sensation Episodic fever Left ventricular hypertrophy Scapular winging Exertional dyspnea Congenital contracture Poor gross motor coordination Acromicria Dysarthria Generalized hypopigmentation Difficulty climbing stairs Generalized amyotrophy Ophthalmoparesis Ocular albinism Chromosome breakage Truncal obesity Respiratory insufficiency due to muscle weakness External genital hypoplasia Hypoplasia of the fovea Oligomenorrhea Overweight Central hypotonia Dysphonia Abnormality of lipid metabolism EMG: myopathic abnormalities External ophthalmoplegia Gowers sign Anemia Clubbing of fingers Aortic root aneurysm Abnormal carotid artery morphology Keratoglobus Long palm Median cleft lip and palate Femoral hernia Avascular necrosis of the capital femoral epiphysis Abnormal myocardium morphology Myocarditis Esophagitis Aortic dissection Cardiorespiratory arrest Hiatus hernia Keratoconus Long philtrum Telangiectasia of the skin Rocker bottom foot Hyperextensible skin Coxa vara Cardiac arrest Thin skin Myocardial infarction Craniosynostosis Hypertrophic cardiomyopathy Clinodactyly of the 5th finger Renal diverticulum Bowel diverticulosis Abnormality of the zygomatic bone Abnormality of cardiovascular system morphology Supravalvular aortic stenosis Cerebellar vermis atrophy Increased number of skin folds Abnormality of the scrotum Upper limb asymmetry Median cleft palate Broad eyebrow Periorbital fullness Lower limb asymmetry External ear malformation Irregular hyperpigmentation Hypoplastic nipples Neuroblastoma Hamartoma Abnormality of the musculature Abnormal heart morphology Overlapping toe Optic nerve hypoplasia Generalized hirsutism Thickened skin Hypoplasia of dental enamel Hypertrichosis Dandy-Walker malformation Nevus Microcornea Retinopathy Low-set, posteriorly rotated ears Brachycephaly Arterial fibromuscular dysplasia Congenital hemolytic anemia Erythema nodosum Bilateral cryptorchidism Poor wound healing Elevated circulating luteinizing hormone level Abnormality of the ovary Elevated circulating follicle stimulating hormone level Sparse pubic hair Abnormality of the testis Poikiloderma Down-sloping shoulders Short clavicles Thoracic scoliosis Secondary amenorrhea Scleroderma Premature ovarian insufficiency Testicular dysgenesis Polycystic ovaries Ventricular tachycardia Short chin Hypergonadotropic hypogonadism Increased bone mineral density Telangiectasia Abnormality of the genital system Atrial fibrillation Convex nasal ridge Tachycardia Abnormality of the Leydig cells Clubbing of toes Wide nasal base Sclerodactyly Vascular tortuosity Recurrent urinary tract infections Dermal translucency Ascending tubular aorta aneurysm Ileus Bladder diverticulum Atelectasis Premature skin wrinkling Shawl scrotum Progressive sensorineural hearing impairment Delayed cranial suture closure Epiphyseal dysplasia Shock Wormian bones Bilateral sensorineural hearing impairment Primary testicular failure Overgrowth Vesicoureteral reflux Recurrent fractures Hemolytic anemia Pulmonic stenosis Joint laxity Hypothyroidism Skeletal muscle hypertrophy Aplasia of the phalanges of the 3rd toe Thyroid hemiagenesis Myofiber disarray Puberty and gonadal disorders Adrenal insufficiency Clinodactyly Albinism Hand polydactyly Missing ribs Multiple renal cysts Severe intrauterine growth retardation Arnold-Chiari type I malformation Severe combined immunodeficiency Syringomyelia Long nose Combined immunodeficiency Unilateral renal agenesis Anophthalmia Language impairment Aortic regurgitation Optic nerve coloboma Microretrognathia Hemivertebrae Pointed chin Short toe Renal agenesis Underdeveloped nasal alae Renal cyst Smooth philtrum Talipes Broad forehead Coloboma Hydrocele testis Pulmonary artery atresia Deeply set eye Kyphoscoliosis Highly arched eyebrow Everted lower lip vermilion Thick vermilion border Short distal phalanx of finger Thick eyebrow Joint hypermobility Neurological speech impairment Pectus carinatum Mental deterioration Pes planus Coarse facial features Mandibular prognathia Chorioretinitis Cerebral cortical atrophy Delayed skeletal maturation Hypertonia Hydrocephalus Frontal bossing Gait disturbance Downslanted palpebral fissures Optic atrophy Brachydactyly Peripheral neuropathy Absent nasal bridge Widely-spaced maxillary central incisors Autistic behavior EEG abnormality Delayed eruption of teeth Metabolic acidosis Hypoplastic toenails Polycystic kidney dysplasia Ventricular arrhythmia Hyperammonemia Knee flexion contracture Multicystic kidney dysplasia Elbow flexion contracture Renal dysplasia Sloping forehead Aciduria Coma Hepatic steatosis Hyperkalemia Bulbous nose Hepatic failure Abnormality of the foot Lethargy Hydronephrosis Elevated hepatic transaminase Acidosis Agenesis of corpus callosum Elevated serum creatine phosphokinase Renal insufficiency Hyperreflexia Cerebral hemorrhage Enlarged kidney Polydactyly Hepatic calcification Midface retrusion Recurrent infections Immunodeficiency Atrial septal defect Long-chain dicarboxylic aciduria Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Intracerebral periventricular calcifications Tapered toe Decreased plasma free carnitine Basal ganglia cysts Heart block Elevated long chain fatty acids Increased muscle lipid content Nonketotic hypoglycemia Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Biventricular hypertrophy Abnormality of nervous system morphology Long toe Ureteral duplication Cystic renal dysplasia Hypoketotic hypoglycemia Single transverse palmar crease Hypodontia Glucose intolerance Photophobia Short palm Infertility Genu valgum Carious teeth Hypermetropia Pruritus Dolichocephaly Leukemia Stroke Respiratory tract infection Abnormality of the nervous system Thin upper lip vermilion Short foot Weight loss Diabetes mellitus Hyporeflexia Syndactyly Abnormality of the dentition Vomiting Pain Failure to thrive Neoplasm Nystagmus Drumstick terminal phalanges Downturned corners of mouth Sleep disturbance Thick nasal septum Aortic valve stenosis Inflammation of the large intestine Emotional lability Radial deviation of finger Hyperinsulinemia Failure to thrive in infancy Nasal speech Poor suck Infantile muscular hypotonia Bicuspid aortic valve Hypogonadotrophic hypogonadism Increased body weight Bradycardia Hypopigmentation of the skin Insulin resistance Clumsiness Primary amenorrhea Cutaneous photosensitivity Type II diabetes mellitus Decreased fetal movement Narrow forehead Abnormality of the cardiovascular system Growth hormone deficiency Esotropia Gastrointestinal hemorrhage Sepsis Abnormality of the nasal alae Bifid sternum Hypoplasia of the maxilla Schizophrenia Abnormality of digit Progressive spasticity Broad hallux Loss of consciousness Abnormality of neuronal migration Cutis marmorata Aplasia/Hypoplasia of the cerebellum Abnormality of dental morphology Self-injurious behavior Prominent supraorbital ridges Coarse hair Aplasia/Hypoplasia of the corpus callosum Thickened calvaria Widely spaced teeth Abnormality of the hair Wide anterior fontanel Abnormality of retinal pigmentation Decreased body weight Abnormal form of the vertebral bodies Open mouth Cerebellar vermis hypoplasia Dental malocclusion Short metacarpal Tetraplegia Broad palm Atonic seizures Uterine prolapse Premature loss of primary teeth Lumbar kyphosis Retinoschisis Pseudoepiphyses of the metacarpals Stooped posture Cataplexy Hyperconvex fingernails Abnormal tricuspid valve morphology Broad finger Narrow iliac wings Thick nasal alae Abnormal diaphysis morphology Rectal prolapse Anteriorly placed anus Hyperextensibility of the finger joints Advanced eruption of teeth Myelopathy Abnormal aortic valve morphology Delayed closure of the anterior fontanelle Craniofacial hyperostosis Abnormal mitral valve morphology Restrictive cardiomyopathy Hypoplastic fingernail Soft skin Severe sensorineural hearing impairment Spinal canal stenosis Localized neuroblastoma


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Pulmonary hypoplasia, related diseases and genetic alterations Ptosis and Spina bifida, related diseases and genetic alterations Failure to thrive and Peripheral neuropathy, related diseases and genetic alterations Micrognathia and Hypothyroidism, related diseases and genetic alterations Sensorineural hearing impairment and Overgrowth, related diseases and genetic alterations Short stature and Abnormality of skin pigmentation, related diseases and genetic alterations