Congestive heart failure, and Brachycephaly

Diseases related with Congestive heart failure and Brachycephaly

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


Top matches:

Medium match URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU


URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU Is also known as faciocardiomusculoskeletal syndrome, uruguay type|fcms

Related symptoms:

  • Scoliosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Cardiomyopathy
  • Congestive heart failure


SOURCES: OMIM MESH MENDELIAN

More info about URUGUAY FACIOCARDIOMUSCULOSKELETAL SYNDROME; FCMSU

Medium match GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME


Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

Medium 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

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium 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

Medium match CATARACT-INTELLECTUAL DISABILITY-HYPOGONADISM SYNDROME


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

Medium match ROBERTS SYNDROME


Roberts syndrome (RBS) is characterized by pre- and postnatal growth retardation, severe symmetric limb reduction defects, craniofacial anomalies and severe intellectual deficit. SC phocomelia is a milder form of RBS.

ROBERTS SYNDROME Is also known as pseudothalidomide syndrome|roberts-sc phocomelia syndrome|sc pseudothalidomide syndrome|sc phocomelia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about ROBERTS SYNDROME

Medium 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

Medium 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 AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE


Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type is a rare, primary bone dysplasia characterized by intrauterine growth retardation, pre- and postnatal disproportionate short stature with short, rhizomelic limbs, facial dysmorphism, a short neck and small thorax. Hypotonia, cardiomegaly and global developmetal delay have also been associated. Several radiographic findings have been reported, including ribs with cupped ends, platyspondyly, square iliac bones, horizontal and trident acetabula, hypoplastic ischia, and delayed epiphyseal ossification.

AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE Is also known as chondrodysplasia, megarbane-dagher-melki type

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MÉGARBANÉ TYPE

Low match OSTEOGENESIS IMPERFECTA TYPE 2


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

Top 5 symptoms//phenotypes associated to Congestive heart failure and Brachycephaly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Downslanted palpebral fissures Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism Scoliosis High palate Cryptorchidism Seizures Short neck Microcephaly Generalized hypotonia Prominent forehead Wormian bones Hearing impairment Cataract Motor delay Flexion contracture Posteriorly rotated ears Proptosis Flat face Cardiomegaly Talipes equinovarus Ventricular septal defect Abnormality of the skeletal system Postnatal growth retardation Dilatation Frontal bossing Delayed skeletal maturation Microcornea Microtia Clinodactyly of the 5th finger Metatarsus adductus Inguinal hernia Abnormal heart morphology Pectus excavatum Mitral regurgitation Hernia Abnormality of cardiovascular system morphology Microphthalmia Abnormal facial shape Cleft palate Intellectual disability, mild Anteverted nares Wide nasal bridge Corneal opacity Blue sclerae Bowing of the long bones Short philtrum Glaucoma

Rare Symptoms - Less than 30% cases


Upslanted palpebral fissure Severe global developmental delay Broad forehead Retinopathy Cardiomyopathy Abnormality of the pinna Low-set, posteriorly rotated ears Umbilical hernia High forehead Genu valgum Short palm Short long bone Hypertension Round face Mitral valve prolapse Retrognathia Short phalanx of finger Wide anterior fontanel Long philtrum Congenital glaucoma Abnormally large globe Broad nasal tip Full cheeks Protruding ear Pes planus Intellectual disability, severe Osteoporosis Coarctation of aorta Kyphoscoliosis Brachydactyly Osteopenia Malar flattening Midface retrusion Cerebral cortical atrophy Epicanthus Joint laxity Pes cavus Muscular hypotonia of the trunk Kyphosis Tricuspid regurgitation Pectus carinatum Coarse facial features Cutis laxa Talipes Thickened skin Short metacarpal Low posterior hairline Deeply set eye External ear malformation Narrow mouth Knee flexion contracture Hydrocephalus Recurrent fractures Respiratory insufficiency Neoplasm Small for gestational age Pulmonic stenosis Narrow chest Heart murmur Radioulnar synostosis Prominent antitragus Respiratory distress Hepatomegaly Clinodactyly Platyspondyly Sandal gap Upper limb undergrowth Spasticity Strabismus Everted lower lip vermilion Lymphedema Hip dislocation Intrauterine growth retardation Aortic valve stenosis Hepatosplenomegaly Wide nose Prominent nose Hyperplasia of the maxilla Ventricular hypertrophy Premature birth Opacification of the corneal stroma Craniosynostosis Hyporeflexia Large fontanelles Accessory carpal bones Meningitis Hypertropia Phocomelia Shoulder dislocation Multiple joint dislocation Humeroradial synostosis Enlarged metaphyses Broad distal phalanges of all fingers Long penis Capillary hemangioma Underdeveloped supraorbital ridges Elevated hepatic transaminase Synostosis of carpal bones Jaundice Macrotia Acidosis Areflexia Severe intrauterine growth retardation Visual loss Renal insufficiency Atrial septal defect Subvalvular aortic stenosis Myopia Low hanging columella Fair hair Failure to thrive Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Aplasia of the ulna Spatulate thumbs Abnormality of the upper limb Patellar aplasia Wrist flexion contracture Abnormality of the abdominal wall Complete duplication of thumb phalanx Esotropia Bicuspid aortic valve Fever Abnormal cardiac septum morphology Hypermetropia Abnormality of the foot Arachnodactyly Thick eyebrow Accelerated skeletal maturation Webbed neck Patent foramen ovale Microdontia Congenital diaphragmatic hernia Abnormal lung morphology Left ventricular hypertrophy Amblyopia Microretrognathia Rhizomelia Joint dislocation Elbow flexion contracture Hyperextensible skin Muscular hypotonia Facial hemangioma Tetraphocomelia Absent earlobe Progressive flexion contractures Talipes equinovalgus Knee dislocation Lumbar scoliosis Endocardial fibroelastosis Deep palmar crease Mesomelic arm shortening Small face Generalized osteoporosis Spondyloepiphyseal dysplasia 11 pairs of ribs Overlapping fingers Midface capillary hemangioma Aortic root aneurysm Narrow nasal bridge Premature separation of centromeric heterochromatin Restrictive ventilatory defect Thoracic hypoplasia Bilateral talipes equinovarus Conductive hearing impairment Metaphyseal widening Carcinoma Abnormal anterior chamber morphology Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Biliary atresia Butterfly vertebrae Butterfly vertebral arch Arterial stenosis Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Intrahepatic cholestasis Broad long bones Coronal craniosynostosis Abnormality of calvarial morphology Reduced number of intrahepatic bile ducts Short nose Pulmonary artery stenosis Lens luxation Abnormality of pelvic girdle bone morphology Disproportionate short-limb short stature Thin skin Convex nasal ridge Pneumonia Abnormality of the dentition Iliac crest serration Dysplastic sacrum Severe platyspondyly Tibial bowing Nonimmune hydrops fetalis Pulmonary insufficiency Squared iliac bones Micromelia Hypoplastic ischia Multiple prenatal fractures Metaphyseal cupping Spondylometaphyseal dysplasia Delayed epiphyseal ossification Bell-shaped thorax Hypokinesia Deep philtrum Tachypnea Short ribs Pulmonary arterial hypertension Limb undergrowth Beaded ribs Abnormality of the vasculature Abnormality of the kidney Hypopigmentation of the skin Nephrotic syndrome Hip contracture Increased susceptibility to fractures Abnormality of the ribs Tetralogy of Fallot Pigmentary retinopathy Specific learning disability Gastrointestinal hemorrhage Vesicoureteral reflux Triangular face Hypodontia Short distal phalanx of finger Hypertriglyceridemia Hepatic failure Cirrhosis Abnormality of skin pigmentation Stage 5 chronic kidney disease Anal atresia Delayed puberty Crumpled long bones Malabsorption Pruritus Stroke Scarring Abnormality of the liver Renal hypoplasia Cholestasis Dilatation of the cerebral artery Hypoplasia of the ulna Hepatocellular carcinoma Exocrine pancreatic insufficiency Posterior embryotoxon Abnormality of the ureter Renal tubular acidosis Keratoconus Telangiectasia of the skin Prolonged neonatal jaundice Long nose Chorioretinal atrophy Vertebral segmentation defect Malnutrition Glomerulosclerosis Abnormal form of the vertebral bodies Portal hypertension Renal hypoplasia/aplasia Corneal dystrophy Hypercholesterolemia Spina bifida occulta Finger clinodactyly Multicystic kidney dysplasia Hemivertebrae Pointed chin Abnormal vertebral morphology Exotropia Renal dysplasia Absent radius Postnatal microcephaly Aplasia/Hypoplasia of the thumb Telecanthus Hypoplasia of dental enamel Abnormality of the face Hypertrichosis Short palpebral fissure Dandy-Walker malformation Febrile seizures Wide intermamillary distance Abnormality of the skin Nevus Blepharophimosis Hypospadias Scrotal hypoplasia Edema Hypoplasia of the corpus callosum Delayed speech and language development Cardiovascular calcification Aortic arch calcification Abnormal common carotid artery morphology Hypometric horizontal saccades Slowed horizontal saccades Cardiac valve calcification Abnormality of toe Decreased beta-glucocerebrosidase protein and activity Generalized hirsutism Optic nerve hypoplasia Calcification of the aorta Upper limb asymmetry Camptodactyly of finger Wide mouth Joint stiffness Camptodactyly Skeletal dysplasia Mandibular prognathia Respiratory failure Localized neuroblastoma Increased number of skin folds Abnormality of the scrotum Median cleft palate Overfolded helix Broad eyebrow Periorbital fullness Lower limb asymmetry Irregular hyperpigmentation Hypoplastic nipples Neuroblastoma Hamartoma Cerebellar vermis atrophy Abnormality of the musculature Long fingers Overlapping toe Bacterial endocarditis Elevated serum acid phosphatase Thin vermilion border Limited elbow movement Pallor Splenomegaly Hypertonia Dislocation of toes Pugilistic facies Marked muscular hypertrophy Broad nail Progressive pes cavus Camptodactyly of toe Brachyturricephaly Eclabion Ophthalmoplegia Broad palm Hallux valgus Skeletal muscle hypertrophy Abnormality of the voice Prominent supraorbital ridges Congenital hip dislocation Joint contracture of the hand Synophrys Hypertrophic cardiomyopathy Difficulty walking Elevated serum creatine phosphokinase Generalized tonic-clonic seizures Dry skin Abnormal aortic arch morphology Abnormal mitral valve morphology Spontaneous, recurrent epistaxis Supranuclear ophthalmoplegia Mitral valve calcification Corneal crystals Abnormal saccadic eye movements Aortic valve calcification Reticular hyperpigmentation Abnormal aortic morphology Abnormality of the pulmonary artery Abnormal aortic valve morphology Foam cells Pancytopenia Supranuclear gaze palsy Communicating hydrocephalus Mitral stenosis Abnormal EKG Abnormal heart valve morphology Exertional dyspnea Cachexia Aortic regurgitation Oculomotor apraxia Horizontal nystagmus Decreased body weight Smooth philtrum Hirsutism Absent thumb Ulnar deviation of finger 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 Thoracic scoliosis Prematurely aged appearance Slender ulna Spastic diplegia Bilateral cryptorchidism Epiphyseal dysplasia Abnormality of the hand Abnormal dermatoglyphics Intellectual disability, progressive Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Cardiac arrest Clonus Short toe Prominent nipples Nystagmus Hypotelorism Hemiparesis Short femoral neck Radial deviation of finger Proximal placement of thumb Clitoral hypertrophy Polycystic kidney dysplasia Hypoplasia of the radius Melanoma Hemangioma Bilateral single transverse palmar creases Short thumb Myocardial infarction Pain Underdeveloped nasal alae Chest pain Falls Cleft upper lip Hypotrichosis Finger syndactyly Prominent nasal bridge Sparse hair Paralysis Polyhydramnios Thrombocytopenia Lumbar hyperlordosis Growth hormone deficiency Thick vermilion border Flat occiput Buphthalmos Concave nasal ridge Beaking of vertebral bodies Genu recurvatum Double outlet right ventricle Premature loss of teeth Megalocornea Aseptic necrosis Delayed cranial suture closure Flared metaphysis Acne Vacuolated lymphocytes Cholelithiasis Abnormality of the metacarpal bones Osteolysis Short chin Gynecomastia Gingival overgrowth Interphalangeal joint contracture of finger Hip dysplasia Dental malocclusion Delayed eruption of teeth Single transverse palmar crease Anterior segment developmental abnormality Thoracolumbar kyphosis Hypoplasia of the maxilla Severe short stature Polyneuropathy Polymicrogyria Peripheral axonal neuropathy Congenital cataract Abnormal pyramidal sign Hyperlordosis Feeding difficulties in infancy Intellectual disability, moderate Micropenis Hypogonadism Recurrent respiratory infections Broad alveolar ridges Encephalopathy Cerebral atrophy Ventriculomegaly Optic atrophy Peripheral neuropathy Anterior concavity of thoracic vertebrae Cortical irregularity Serpentine fibula Prominent coccyx Broad clavicles Multiple skeletal anomalies Absent ossification of calvaria



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intellectual disability, severe and Open mouth, related diseases and genetic alterations Congestive heart failure and Hemolytic anemia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more