Congestive heart failure, and Full cheeks

Diseases related with Congestive heart failure and Full cheeks

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


Top matches:

High match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

High match DILATED CARDIOMYOPATHY-HYPERGONADOTROPIC HYPOGONADISM 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

High match AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1


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

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Other less relevant matches:

High match GELEOPHYSIC DYSPLASIA


Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

GELEOPHYSIC DYSPLASIA Is also known as geleophysic dwarfism

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA

High match MULTIPLE BENIGN CIRCUMFERENTIAL SKIN CREASES ON LIMBS


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

High match BARTH SYNDROME


Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay and organic aciduria.

BARTH SYNDROME Is also known as bths|3-methylglutaconic aciduria type 2|mgca2|x-linked cardioskeletal myopathy and neutropenia|cardioskeletal myopathy with neutropenia and abnormal mitochondria|mga2|mga, type ii|cardioskeletal myopathy-neutropenia syndrome|3-methylglutaconic aciduria, t

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Failure to thrive


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about BARTH SYNDROME

High match MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM


Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

High match FRANK-TER HAAR SYNDROME


Frank-ter Haar syndrome (formerly considered as an autosomal recessive form of Melnick-Needles syndrome; see this term) is defined by megalocornea, multiple skeletal anomalies, characteristic facial dysmorphism (wide fontanels, prominent forehead, hypertelorism, prominent eyes, full cheeks and micrognathia) and developmental delay.

FRANK-TER HAAR SYNDROME Is also known as ter haar syndrome|borrone dermatocardioskeletal syndrome|melnick-needles syndrome, autosomal recessive, formerly

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FRANK-TER HAAR SYNDROME

High match CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

High match PRADER-WILLI SYNDROME; PWS


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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Full cheeks

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Pectus excavatum Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability, mild Osteoporosis Osteopenia Wide nasal bridge Generalized hypotonia Motor delay Thickened skin Talipes equinovarus Umbilical hernia Inguinal hernia Hernia Cryptorchidism Scoliosis High palate Seizures Dilatation Anteverted nares Depressed nasal bridge Hepatomegaly Flexion contracture Abnormality of the skeletal system Arrhythmia Myopathy Cardiomyopathy Abnormal heart morphology Abnormality of cardiovascular system morphology Edema Delayed puberty Deeply set eye Epicanthus Abnormality of the skin Micrognathia Abnormality of the pinna Bicuspid aortic valve Spontaneous abortion Short palm Tricuspid regurgitation Upslanted palpebral fissure Hypertelorism Cutis laxa Microcephaly Abnormal facial shape Failure to thrive Hearing impairment High forehead Hypoglycemia Arachnodactyly Thin upper lip vermilion Cardiomegaly Protruding ear Mandibular prognathia Respiratory failure

Rare Symptoms - Less than 30% cases


Wide mouth Camptodactyly of finger Joint stiffness Cor pulmonale Talipes Hepatosplenomegaly Brachydactyly Long philtrum Short nose Intellectual disability, severe Smooth philtrum Kyphosis Clinodactyly of the 5th finger Delayed cranial suture closure Redundant skin Thoracolumbar kyphosis Wormian bones Abnormality of the face Oligohydramnios Joint hyperflexibility Joint laxity Dolichocephaly Radial deviation of finger Prominent forehead Recurrent respiratory infections Genu valgum Single transverse palmar crease Hypospadias Incisional hernia Febrile seizures Small hand Frontal bossing Nystagmus Myopia Abnormality of the dentition Hypoplasia of dental enamel Scrotal hypoplasia Clinodactyly Gait disturbance Narrow mouth Brachycephaly Stroke Broad forehead Sepsis Hip dysplasia Coarse facial features Short foot Short neck Postnatal growth retardation Hirsutism Delayed speech and language development Photophobia Low-set ears Abnormality of the cardiovascular system Wrist flexion contracture Short long bone Widely spaced teeth Aortic valve stenosis Protuberant abdomen Limb undergrowth Telecanthus Round face Specific learning disability Respiratory distress Ptosis Precocious puberty Skeletal myopathy Hepatic fibrosis Pain Amenorrhea Obesity Dilated cardiomyopathy Otitis media Muscle weakness Microtia Broad nasal tip Proximal muscle weakness Micropenis Hypogonadism Ventricular hypertrophy Short chin Hepatic failure Sensorineural hearing impairment Hypertrophic cardiomyopathy Hypertension Thin vermilion border Finger syndactyly Nephropathy High, narrow palate Retinal dystrophy Short distal phalanx of finger Stage 5 chronic kidney disease Narrow chest Tubulointerstitial nephritis Skeletal muscle atrophy Sparse hair Craniosynostosis Hypodontia Anodontia Malar flattening Renal insufficiency Immunodeficiency Elevated serum creatinine Midface retrusion Everted lower lip vermilion Thoracic hypoplasia Ectodermal dysplasia Abnormality of the fingernails Prominent occiput High hypermetropia Abnormality of dental morphology Cupped ear Short humerus Fibular hypoplasia Scaphocephaly Chronic kidney disease Abnormality of dental enamel Microdontia Taurodontia Hypocalcemia Short ribs Short toe Rhizomelia Omphalocele Abnormality of the metaphysis Fine hair Short thorax Hypotelorism Broad clavicles Anterior concavity of thoracic vertebrae Skeletal dysplasia Bowing of the long bones Interphalangeal joint contracture of finger Mitral valve prolapse Elevated serum creatine phosphokinase Dental malocclusion Delayed eruption of teeth Elevated hepatic transaminase Thick vermilion border Corneal opacity Short philtrum Camptodactyly Kyphoscoliosis Gingival overgrowth Proptosis Myalgia Glaucoma Carcinoma Abnormality of the liver Scarring Ventricular septal defect Downslanted palpebral fissures Cirrhosis Ridged cranial sutures Abnormality of the Eustachian tube Short phalanx of finger Wide anterior fontanel Cortical irregularity Genu recurvatum Serpentine fibula Prominent coccyx Multiple skeletal anomalies Hyperplasia of the maxilla Broad alveolar ridges Vacuolated lymphocytes Anterior segment developmental abnormality Buphthalmos Concave nasal ridge Beaking of vertebral bodies Abnormally large globe Double outlet right ventricle Gynecomastia Premature loss of teeth Megalocornea Aseptic necrosis Congenital glaucoma Flared metaphysis Metatarsus adductus Flat occiput Acne Cholelithiasis Abnormality of the metacarpal bones Osteolysis Abnormal toenail morphology Flattened epiphysis Slow-growing hair Skeletal muscle hypertrophy Hypopigmentation of hair Pulmonary embolism Striae distensae Impaired pain sensation Myeloid leukemia Narrow nasal bridge Polyphagia External genital hypoplasia Truncal obesity Decreased muscle mass Adrenal insufficiency Albinism Iris hypopigmentation Glucose intolerance Inflammation of the large intestine Large hands Emotional lability Hyperinsulinemia Failure to thrive in infancy Nasal speech Poor suck Infantile muscular hypotonia Sleep apnea Narrow palpebral fissure Hypoventilation Abnormality of lipid metabolism Increased body weight Frontal upsweep of hair Poor gross motor coordination Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Clitoral hypoplasia Central hypotonia Anteverted ears Poor fine motor coordination Abdominal obesity Generalized hypopigmentation Hypothermia Ocular albinism Chromosome breakage Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Hypogonadotrophic hypogonadism Bradycardia Sagittal craniosynostosis Strabismus Diabetes mellitus Hyporeflexia Syndactyly Behavioral abnormality Vomiting Ventriculomegaly Intrauterine growth retardation Fever Feeding difficulties Cognitive impairment Muscular hypotonia Neoplasm Weight loss Malformation of the hepatic ductal plate Broad distal phalanges of all fingers Renal magnesium wasting Broad toe Tubulointerstitial abnormality Short nail Interstitial pneumonitis Thin nail Abnormality of the abdominal wall Abnormal diaphysis morphology Hepatic cysts Hyperactivity Autism Insulin resistance Sleep disturbance Clumsiness Primary amenorrhea Cutaneous photosensitivity Psychosis Type II diabetes mellitus Decreased fetal movement Narrow forehead Growth hormone deficiency Esotropia Gastrointestinal hemorrhage Hypopigmentation of the skin Tapered finger Neonatal hypotonia Downturned corners of mouth Polymicrogyria Infertility Carious teeth Hypermetropia Pruritus Leukemia Attention deficit hyperactivity disorder Respiratory tract infection Apnea Abnormality of the nervous system Abnormality of nasopharyngeal adenoids Thenar muscle atrophy Restricted chest movement Increased bone mineral density Lack of skin elasticity Mitral stenosis Ovoid vertebral bodies Dysostosis multiplex Tracheal stenosis Right ventricular hypertrophy High pitched voice Bilateral talipes equinovarus Toe walking Cone-shaped epiphysis Hypergonadotropic hypogonadism Hypoplasia of the capital femoral epiphysis Aortic regurgitation Coxa valga Joint contracture of the hand Ventricular tachycardia Small nail Polycystic ovaries Lipodystrophy Bilateral ptosis Premature ovarian insufficiency Bilateral cryptorchidism Scleroderma Thickened helices Telangiectasia Thoracic scoliosis Microphthalmia Microcornea Flat face Severe global developmental delay Retinopathy Blepharophimosis Periportal fibrosis Low-set, posteriorly rotated ears Ketotic hypoglycemia Posteriorly rotated ears Retrognathia Hypoplasia of the corpus callosum Tip-toe gait Tachycardia Wide nose Convex nasal ridge Atrial fibrillation Mitral regurgitation Cleft palate Abnormality of the genital system Short metacarpals with rounded proximal ends Irregular capital femoral epiphysis Tricuspid stenosis J-shaped sella turcica Secondary amenorrhea Short clavicles Wide intermamillary distance Puberty and gonadal disorders Epiphyseal dysplasia Aortic aneurysm Wide nasal base Shock Testicular dysgenesis Sclerodactyly Primary testicular failure Recurrent urinary tract infections Bilateral sensorineural hearing impairment Congenital diaphragmatic hernia Overgrowth Poor wound healing Vesicoureteral reflux Recurrent fractures Hemolytic anemia Myofiber disarray Pulmonic stenosis Hip dislocation Thyroid hemiagenesis Aplasia of the phalanges of the 3rd toe Arthralgia Hypothyroidism Anemia Emphysema Progressive sensorineural hearing impairment Down-sloping shoulders Supravalvular aortic stenosis Poikiloderma Severe short stature Delayed skeletal maturation Abnormality of the testis Sparse pubic hair Respiratory insufficiency Elevated circulating follicle stimulating hormone level Abnormality of the ovary Renal diverticulum Bowel diverticulosis Arterial fibromuscular dysplasia Congenital hemolytic anemia Prematurely aged appearance Vascular tortuosity Dermal translucency Ascending tubular aorta aneurysm Arterial stenosis Ileus Bladder diverticulum Elevated circulating luteinizing hormone level Atelectasis Premature skin wrinkling Pulmonary artery stenosis Shawl scrotum Nevus Micronodular cirrhosis Recurrent upper and lower respiratory tract infections Pyoderma Progressive muscle weakness Macrocephaly Intermittent lactic acidemia Recurrent infections in infancy and early childhood Increased mitochondrial number Cyclic neutropenia Agranulocytosis Abnormal mitochondrial shape Abnormal mitochondrial morphology Monocytosis Prolonged QTc interval Conductive hearing impairment Abnormal endocardium morphology Granulocytopenia Abnormality of neutrophils 3-Methylglutaconic aciduria Hypocholesterolemia Abnormality of the mitochondrion Endocardial fibroelastosis Left ventricular failure Recurrent aphthous stomatitis Decreased plasma carnitine Left ventricular noncompaction Hypertriglyceridemia Pectus carinatum Mitochondrial myopathy Abnormality of the skull Tonsillitis Dermatan sulfate excretion in urine Abnormality of mucopolysaccharide metabolism Functional motor deficit Heparan sulfate excretion in urine Obstructive lung disease Expressive language delay Flared nostrils Mucopolysacchariduria Clubbing of fingers Papilledema Epistaxis Distal amyotrophy Rhinitis Abnormal heart valve morphology Short finger Bowel incontinence Multiple joint contractures Prominent supraorbital ridges Hoarse voice Osteoarthritis Prominent nose Urinary incontinence Organic aciduria Poor appetite Dandy-Walker malformation Hypoplastic nipples Localized neuroblastoma 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 Neuroblastoma Ketosis Hamartoma Cerebellar vermis atrophy Abnormality of the musculature Long fingers Overlapping toe Overfolded helix Optic nerve hypoplasia Recurrent corneal erosions Generalized hirsutism Hypertrichosis Short palpebral fissure Peripheral neuropathy Fatigue Myopathic facies Neutropenia Abnormality of mitochondrial metabolism Easy fatigability Ventricular arrhythmia Hyperammonemia Recurrent bacterial infections Exercise intolerance Hydrops fetalis Eczema Aciduria Sudden cardiac death Decreased liver function Lactic acidosis Diarrhea Ophthalmoplegia Lethargy Sinusitis Hyperlipidemia Progressive hearing impairment Feeding difficulties in infancy Facial palsy Macrotia Acidosis Recurrent sinusitis Recurrent infections Acromicria



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