Congestive heart failure, and Flat face

Diseases related with Congestive heart failure and Flat face

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


Top matches:

High match COG7-CDG


COG7-CDG is a congenital disorder of glycosylation characterised by dysmorphism, skeletal dysplasia, hypotonia, hepatosplenomegaly, jaundice, cardiac insufficiency, recurrent infections and epilepsy. To date, it has been described in two infants, both of whom died within the first three months of life. The syndrome is caused by a mutation in the gene encoding COG-7 (chromosome 16), a subunit of the oligomeric Golgi complex.

COG7-CDG Is also known as carbohydrate deficient glycoprotein syndrome type iie|congenital disorder of glycosylation type 2e|cdg iie|cdg syndrome type iie|cdg2e|congenital disorder of glycosylation type iie|cdg-iie|cdgiie

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about COG7-CDG

High match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

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

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Other less relevant matches:

High match TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY


Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

High match PROXIMAL 16P11.2 MICRODELETION SYNDROME


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

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

High match HENNEKAM SYNDROME


Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

High match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Low match CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27


CMH27 is a severe, early-onset cardiomyopathy with morphologic features of both dilated and hypertrophic disease, characterized by biventricular involvement and atypical distribution of hypertrophy. Heterozygotes are at increased risk of developing cardiomyopathy (Almomani et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of hypertrophic cardiomyopathy, see CMH1 (OMIM ).An oligogenic form of hypertrophic cardiomyopathy, involving heterozygous mutations in the ALPK3, TTN (OMIM ), and MYL3 (OMIM ) genes has also been reported in 1 family.

Related symptoms:

  • Abnormal facial shape
  • Low-set ears
  • High palate
  • Cardiomyopathy
  • Edema


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC 27; CMH27

Low match LEFT VENTRICULAR NONCOMPACTION


Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium|lvnc|left ventricular hypertrabeculation|left ventricular noncompaction 1 with or without congenital heart defects

Related symptoms:

  • Abnormal facial shape
  • Ventricular septal defect
  • Respiratory distress
  • Congestive heart failure
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION

Top 5 symptoms//phenotypes associated to Congestive heart failure and Flat face

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Hearing impairment Scoliosis Short neck Generalized hypotonia Cryptorchidism Muscular hypotonia Wide nasal bridge Micrognathia Cleft palate Broad forehead Hepatomegaly Hypertension Respiratory distress Midface retrusion Hernia Inguinal hernia Short stature Microcephaly Ventricular septal defect Respiratory insufficiency Depressed nasal bridge Intellectual disability, mild Hydrops fetalis Microtia Cataract Delayed skeletal maturation Myopia Narrow chest Talipes equinovarus Failure to thrive Motor delay Umbilical hernia Glaucoma Narrow mouth Brachycephaly Edema Malar flattening Short philtrum Hypertrophic cardiomyopathy Atrial septal defect Arrhythmia Intrauterine growth retardation Abnormal heart morphology Hepatosplenomegaly Abnormality of the pinna Dilatation Lymphedema Microretrognathia Abnormality of the kidney Anteverted nares Left ventricular hypertrophy

Rare Symptoms - Less than 30% cases


Cardiomyopathy Epicanthus Microphthalmia Long philtrum Delayed speech and language development Cerebral cortical atrophy High palate Acidosis Retrognathia Intellectual disability, moderate Pyloric stenosis Spina bifida occulta Long nose Wide mouth Camptodactyly of finger Hemivertebrae Smooth philtrum Hypospadias Retinopathy Talipes Spondyloepiphyseal dysplasia Small hand Microcornea Congenital diaphragmatic hernia Deeply set eye Coronal craniosynostosis Cutis laxa Macrotia Tricuspid regurgitation Pectus excavatum Hyperactivity Blepharophimosis External ear malformation Cognitive impairment Pointed chin Strabismus Flexion contracture Upslanted palpebral fissure Posteriorly rotated ears Vesicoureteral reflux Restrictive ventilatory defect Downslanted palpebral fissures Areflexia Abnormality of the foot Pulmonic stenosis Abnormality of the liver Conductive hearing impairment Sensorineural hearing impairment Hip dislocation Craniosynostosis Elevated hepatic transaminase Malabsorption Jaundice Polydactyly Abnormal lung morphology Pectus carinatum Prominent forehead Ventricular arrhythmia Genu valgum Diarrhea Left ventricular noncompaction Feeding difficulties Frontal bossing Fever Abnormal form of the vertebral bodies Abnormality of the skeletal system Behavioral abnormality Cholestasis Mitral regurgitation Recurrent infections Rhizomelia Respiratory tract infection Cardiomegaly Lumbar scoliosis Generalized edema Hypoproteinemia Hirsutism Knee dislocation Sparse axillary hair Nonimmune hydrops fetalis Talipes equinovalgus Arteriovenous malformation Hypoplastic iliac wing Multiple joint dislocation Edema of the lower limbs Abnormality of the abdominal wall Abnormal oral mucosa morphology Protein-losing enteropathy Lymphangioma Benign neoplasm of the central nervous system 11 pairs of ribs Conical incisor Severe hydrops fetalis Generalized osteoporosis Pulmonary lymphangiectasia Small face Erysipelas Endocardial fibroelastosis Intestinal lymphangiectasia Deep palmar crease Shoulder dislocation Primary hypothyroidism Chylothorax Rectal prolapse Periorbital edema Polysplenia Abnormality of dental morphology Hypertropia Bilateral single transverse palmar creases Camptodactyly Finger syndactyly Lymphadenopathy Cutaneous syndactyly Abnormal intestine morphology Narrow palate Horseshoe kidney Hypocalcemia Joint contracture of the hand Polyhydramnios Lymphopenia Short palm Gingival overgrowth Pachygyria Decreased antibody level in blood Thyroid lymphangiectasia Ascites Delayed eruption of teeth Short foot Hydronephrosis Oligodontia Accessory carpal bones Pleural effusion Enlarged metaphyses Palpebral edema Increased number of teeth Cutaneous finger syndactyly Prominent antitragus Spatulate thumbs Pericardial effusion Ectopic kidney Broad distal phalanges of all fingers Hypothyroidism Metacarpophalangeal joint hyperextensibility Bilateral elbow dislocations Hypoalbuminemia Reduced number of teeth Intellectual disability, severe Abnormality of the dentition Splenomegaly Syndactyly Recurrent respiratory infections Mild postnatal growth retardation Hypertriglyceridemia Pericardial lymphangiectasia Axenfeld anomaly Dilated cardiomyopathy Depressivity Butterfly vertebral arch Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Vitamin D deficiency Papillary thyroid carcinoma Cardiac arrest Band keratopathy Biliary atresia Abnormal anterior chamber morphology Butterfly vertebrae Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Ventricular hypertrophy Pterygium Pulmonary artery stenosis Left bundle branch block Noncompaction cardiomyopathy Left ventricular noncompaction cardiomyopathy Permanent atrial fibrillation Biventricular hypertrophy Right ventricular failure Abnormal thrombosis Abnormal left ventricle morphology Abnormal myocardium morphology Restrictive cardiomyopathy Concave nasal ridge Wolff-Parkinson-White syndrome Pulmonary embolism Right ventricular hypertrophy Hypoplastic left heart Right bundle branch block Bundle branch block Atrioventricular block Ventricular tachycardia Exercise intolerance Atrial fibrillation Syncope Sudden cardiac death Tachycardia Patent ductus arteriosus Multiple pterygia Intrahepatic cholestasis Abnormality of the vasculature Pleural lymphangiectasia Stage 5 chronic kidney disease Specific learning disability Gastrointestinal hemorrhage Prominent nose Round face Triangular face Hypodontia Hypopigmentation of the skin Short distal phalanx of finger Hepatic failure Cirrhosis Abnormality of skin pigmentation Anal atresia Tetralogy of Fallot Delayed puberty Pruritus Stroke Scarring Protruding ear Carcinoma Coarse facial features Clinodactyly of the 5th finger Visual loss Clinodactyly Renal insufficiency Neoplasm Pigmentary retinopathy Abnormality of the ribs Dilatation of the cerebral artery Heart murmur Hepatocellular carcinoma Exocrine pancreatic insufficiency Posterior embryotoxon Abnormality of the ureter Renal tubular acidosis Keratoconus Telangiectasia of the skin Prolonged neonatal jaundice Chorioretinal atrophy Vertebral segmentation defect Malnutrition Hypoplasia of the ulna Glomerulosclerosis Coarctation of aorta Portal hypertension Renal hypoplasia/aplasia Corneal dystrophy Hypercholesterolemia Finger clinodactyly Multicystic kidney dysplasia Abnormal vertebral morphology Exotropia Renal dysplasia Abnormally large globe Renal hypoplasia Nephrotic syndrome Overlapping fingers Unilateral renal agenesis Upper limb undergrowth Delayed pubic bone ossification Low-set, posteriorly rotated ears Telecanthus High forehead Abnormality of cardiovascular system morphology Hypoplasia of the corpus callosum Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Retinoschisis Full cheeks Limited hip movement Cervical myelopathy Flattened epiphysis Limited elbow movement Myelopathy Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Severe global developmental delay Nevus Short thorax Overfolded helix Periorbital fullness Lower limb asymmetry Irregular hyperpigmentation Hypoplastic nipples Neuroblastoma Hamartoma Cerebellar vermis atrophy Abnormality of the musculature Long fingers Overlapping toe Optic nerve hypoplasia Abnormality of the skin Scrotal hypoplasia Generalized hirsutism Thickened skin Hypoplasia of dental enamel Abnormality of the face Hypertrichosis Short palpebral fissure Dandy-Walker malformation Febrile seizures Wide intermamillary distance Progressive sensorineural hearing impairment Vestibular dysfunction Median cleft palate Protruding tongue Gait disturbance Pain Muscle weakness Nystagmus Mild proteinuria Abnormal glycosylation Areflexia of lower limbs Premature skin wrinkling Distal arthrogryposis Inverted nipples Abnormality of immune system physiology Severe short stature Adducted thumb Dehydration Delayed myelination Polyneuropathy Thick vermilion border Arthrogryposis multiplex congenita Proteinuria Thrombocytopenia Cerebral atrophy Anemia Kyphosis Skeletal dysplasia Bowing of the legs Limb undergrowth Back pain Genu varum Growth abnormality Sleep apnea Coxa vara Abnormality of epiphysis morphology Abnormality of the metaphysis Osteoarthritis Lumbar hyperlordosis High myopia Waddling gait Arthritis Limitation of joint mobility Retinal detachment Pulmonary hypoplasia Retinal degeneration Paresthesia Micromelia Platyspondyly Autoimmunity Hyperlordosis Apnea Broad eyebrow Upper limb asymmetry Aortic root aneurysm Chorioretinitis Abnormal cardiac septum morphology Joint laxity Pes planus Osteopenia Kyphoscoliosis Proptosis Osteoporosis Hydrocephalus Absent nasal bridge Widely-spaced maxillary central incisors Pulmonary artery atresia Arachnodactyly Optic nerve coloboma Hydrocele testis Missing ribs Multiple renal cysts Severe intrauterine growth retardation Arnold-Chiari type I malformation Severe combined immunodeficiency Syringomyelia Combined immunodeficiency Anophthalmia Hypermetropia Thick eyebrow Hand polydactyly Accelerated skeletal maturation Narrow nasal bridge Congenital glaucoma Thoracic hypoplasia Bilateral talipes equinovarus Metatarsus adductus Radioulnar synostosis Patent foramen ovale Hyperextensible skin Bicuspid aortic valve Sandal gap Joint dislocation Recurrent fractures Elbow flexion contracture Meningitis Amblyopia Blue sclerae Low posterior hairline Mitral valve prolapse Microdontia Webbed neck Esotropia Short metacarpal Language impairment Bilateral ptosis Abnormality of the scrotum Increased serum lactate Flat occiput Encephalitis Hyperammonemia Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Intention tremor Pulmonary arterial hypertension Interphalangeal joint contracture of finger Oligohydramnios Aciduria Premature birth Moderate global developmental delay Lactic acidosis Small for gestational age Neonatal hypotonia Respiratory failure Encephalopathy Cerebellar atrophy Tremor Ataxia Localized neuroblastoma Increased number of skin folds Abnormal aortic valve morphology 3-Methylglutaconic aciduria Aortic regurgitation EEG abnormality Narrow palpebral fissure Short toe Psychosis Renal agenesis Underdeveloped nasal alae Renal cyst Tapered finger Attention deficit hyperactivity disorder Coloboma Autistic behavior Gastroesophageal reflux Hyperalaninemia Autism Micropenis Obesity Immunodeficiency Short nose Ventriculomegaly Macrocephaly Ptosis Abnormal pulmonary valve morphology Gastroparesis Abnormality of the fascia



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