Congestive heart failure, and Congenital diaphragmatic hernia

Diseases related with Congestive heart failure and Congenital diaphragmatic hernia

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


Top matches:

Medium match AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS


Autosomal recessive spondylocostal dysostosis (ARSD) is a rare condition of variable severity associated with vertebral and rib segmentation defects and characterised by a short neck with limited mobility, winged scapulae, a short trunk, and short stature with multiple vertebral anomalies at all levels of the spine.

AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS Is also known as vertebral anomalies|jarcho-levin syndrome|spondylothoracic dysplasia|spondylothoracic dysostosis|costovertebral dysplasia

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Scoliosis
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPONDYLOCOSTAL DYSOSTOSIS

Medium 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

Medium match 3MC SYNDROME 3; 3MC3


The term '3MC syndrome' encompasses 4 rare autosomal recessive disorders that were previously designated the Carnevale, Mingarelli, Malpuech, and Michels syndromes, respectively. The main features of these syndromes are facial dysmorphism that includes hypertelorism, blepharophimosis, blepharoptosis, and highly arched eyebrows, which are present in 70 to 95% of cases. Cleft lip and palate, postnatal growth deficiency, cognitive impairment, and hearing loss are also consistent findings, occurring in 40 to 68% of cases. Craniosynostosis, radioulnar synostosis, and genital and vesicorenal anomalies occur in 20 to 30% of cases. Rare features include anterior chamber defects, cardiac anomalies, caudal appendage, umbilical hernia (omphalocele), and diastasis recti (summary by Rooryck et al., 2011).For a discussion of genetic heterogeneity of 3MC syndrome, see 3MC1 (OMIM ).

3MC SYNDROME 3; 3MC3 Is also known as malpuech facial clefting syndrome, formerly|facial clefting syndrome, gypsy type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about 3MC SYNDROME 3; 3MC3

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Other less relevant matches:

Medium 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

Medium match VACTERL/VATER ASSOCIATION


VACTERL/VATER is an association of congenital malformations typically characterized by the presence of at least three of the following: vertebral defects, anal atresia, cardiac defects, tracheo-esophageal fistula, renal anomalies, and limb abnormalities.

VACTERL/VATER ASSOCIATION Is also known as vacterl association|vater association

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about VACTERL/VATER ASSOCIATION

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 ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

Medium match C SYNDROME


C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

Medium match NAGER SYNDROME


Nager syndrome, also called Nager acrofacial dysostosis (NAFD) is a congenital malformation syndrome characterized by mandibulofacial dystosis (malar hypoplasia, micrognathia, external ear malformations) and variable preaxial limb defects.

NAGER SYNDROME Is also known as afd, nager type|mandibulofacial dysostosis, treacher collins type, with limb anomalies|preaxial acrodysostosis|nager acrofacial dysostosis|nager syndrome|mandibulofacial dysostosis with preaxial limb anomalies|nafd

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NAGER SYNDROME

Low match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I


Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I Is also known as lgmdr9|lgmd2i|muscular dystrophy-dystroglycanopathy, limb-girdle, frkp-related|muscular dystrophy, limb-girdle, autosomal recessive 9|limb-girdle muscular dystrophy due to fkrp deficiency|muscular dystrophy, limb-girdle, type 2i

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Motor delay
  • Respiratory insufficiency


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2I

Top 5 symptoms//phenotypes associated to Congestive heart failure and Congenital diaphragmatic hernia

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Scoliosis Common - Between 50% and 80% cases
Hernia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Cleft palate

Uncommon Symptoms - Between 30% and 50% cases


Growth delay

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Hearing impairment Intrauterine growth retardation Ptosis Talipes equinovarus Short stature Microcephaly Talipes Generalized hypotonia Ventricular septal defect Low-set ears Patent ductus arteriosus Respiratory insufficiency Hypertelorism Anteverted nares Short neck Respiratory distress Hip dislocation Atrial septal defect Inguinal hernia Muscular hypotonia Strabismus Motor delay Seizures Abnormality of cardiovascular system morphology Polydactyly Hypospadias Kyphoscoliosis Abnormal heart morphology Low-set, posteriorly rotated ears Radioulnar synostosis Posteriorly rotated ears Wide mouth Unilateral renal agenesis Midface retrusion Premature birth Failure to thrive Wide nasal bridge Hydrocephalus Syndactyly Renal agenesis Hypertension Anemia Cutis laxa Feeding difficulties Omphalocele Cleft lip Depressed nasal bridge Tetralogy of Fallot Preaxial polydactyly Macrocephaly Respiratory failure Umbilical hernia Agenesis of corpus callosum Hemivertebrae Clinodactyly

Rare Symptoms - Less than 30% cases


Hypoplasia of the radius Abnormality of the pinna Bifid scrotum Muscle weakness Hepatomegaly Cardiomyopathy Small hand Oral cleft Cleft upper lip Short thumb Blepharophimosis Craniosynostosis Postnatal growth retardation Abnormality of the kidney Restrictive ventilatory defect Proximal muscle weakness Muscular hypotonia of the trunk Conductive hearing impairment Micropenis Polyhydramnios Abnormality of the genital system Myalgia Brachydactyly Toe syndactyly Radial deviation of finger Choanal atresia Facial cleft Joint dislocation Triphalangeal thumb Short toe Pneumonia Non-midline cleft lip Absent radius Aplasia/Hypoplasia of the radius Dysphagia Hemifacial hypoplasia Missing ribs Flexion contracture Delayed skeletal maturation Hand polydactyly Microretrognathia Flat face Left ventricular hypertrophy Smooth philtrum Multicystic kidney dysplasia Proptosis Microtia Malar flattening Short nose Short metacarpal Preauricular skin tag Abnormal cardiac septum morphology Delayed speech and language development Abnormal lung morphology Cardiomegaly Downslanted palpebral fissures Edema Kyphosis Shock Wormian bones Recurrent urinary tract infections Vesicoureteral reflux Recurrent fractures Arachnodactyly Pulmonic stenosis Joint laxity Osteoporosis Pectus excavatum Dilatation Sensorineural hearing impairment Abnormality of the intervertebral disk Epiphyseal dysplasia Abnormality of female internal genitalia Long philtrum Recurrent respiratory infections Abnormality of immune system physiology Vertebral segmentation defect Scapular winging Spina bifida Abnormal vertebral morphology Abnormality of the ribs Hyperlordosis Respiratory tract infection Finger syndactyly Redundant skin Broad forehead Shawl scrotum Epicanthus Atelectasis Cognitive impairment Muscular dystrophy Leukoencephalopathy Poor eye contact Progressive spasticity Pericardial effusion Global brain atrophy Diaphragmatic weakness Adrenal insufficiency Oral-pharyngeal dysphagia Incoordination Ragged-red muscle fibers Exercise intolerance Pancreatitis Basal ganglia calcification Horizontal nystagmus Cardiac arrest Aspiration Leukodystrophy Wide anterior fontanel Ventricular hypertrophy Coarctation of aorta Optic disc pallor Pigmentary retinopathy Cyanosis Weak cry Renal tubular acidosis Pelvic girdle muscle weakness Stiff neck Acute necrotizing encephalopathy Abnormal mitochondria in muscle tissue Congenital lactic acidosis Necrotizing encephalopathy Progressive macrocephaly Cardiogenic shock Macrovesicular hepatic steatosis Infantile encephalopathy Biventricular hypertrophy Axial dystonia Decreased activity of mitochondrial respiratory chain Acute pancreatitis Increased serum lactate Cerebral edema Severe lactic acidosis Corpus callosum atrophy Wolff-Parkinson-White syndrome Increased CSF lactate Nemaline bodies Aspiration pneumonia Cardiorespiratory arrest Mitochondrial myopathy Progressive encephalopathy Optic neuropathy Febrile seizures Migraine Nocturnal hypoventilation Hyporeflexia Apnea Mental deterioration Abnormality of the eye Hypertrophic cardiomyopathy Severe short stature Reduced muscle fiber alpha dystroglycan Hypoglycemia Acidosis Myoclonus Babinski sign Areflexia Developmental regression Encephalopathy Renal insufficiency Dystonia Vomiting Cerebellar atrophy Myopathy Blindness Camptodactyly of finger Fatigue Optic atrophy Skeletal muscle atrophy Feeding difficulties in infancy Irritability High palate Hepatic failure Brain atrophy Gliosis Generalized myoclonic seizures Exercise-induced myoglobinuria Progressive cerebellar ataxia Abnormal cerebellum morphology Coma Abnormality of the Achilles tendon Metabolic acidosis Hepatic steatosis Dyskinesia Lactic acidosis Pallor Stage 5 chronic kidney disease Thigh hypertrophy Abnormality of movement Abnormality of eye movement Limb muscle weakness Lethargy Severe global developmental delay Stroke Abnormal pyramidal sign Retinopathy Abnormality of the liver Exercise-induced lactic acidemia Intellectual disability, severe Restrictive deficit on pulmonary function testing Frequent falls Aplasia/Hypoplasia of the eyebrow Broad hallux Hallux valgus Spastic diplegia Overlapping toe Urticaria Atresia of the external auditory canal Atrioventricular block Abnormal palate morphology Aortic valve stenosis Aganglionic megacolon Absent thumb Split hand Hemiparesis Limb-girdle muscular dystrophy Dental malocclusion Hypoplasia of the maxilla Polymicrogyria Prominent nasal bridge Joint stiffness Camptodactyly Skeletal dysplasia Retrognathia Limited elbow extension Aplasia/Hypoplasia of the thumb Pain Abnormality of the cervical spine Elevated serum creatine phosphokinase Hypoplasia of first ribs Sparse lower eyelashes Lower eyelid coloboma Absent toe Short distal phalanx of the thumb Laryngeal hypoplasia Hypoplasia of the epiglottis Velopharyngeal insufficiency Foot oligodactyly Mandibulofacial dysostosis Abnormal nasal morphology Hypoplasia of the zygomatic bone Dilated cardiomyopathy Gastroschisis Falls Muscle cramps Macroglossia Phocomelia Aqueductal stenosis Bicornuate uterus Abnormality of the lower limb Trismus Waddling gait Abnormality of the skeletal system Fused sternal ossification centers Difficulty walking Achilles tendon contracture Trigonocephaly Failure to thrive in infancy Renal hypoplasia/aplasia Sacral dimple Aplasia/Hypoplasia of the corpus callosum Short chin Horseshoe kidney Shoulder girdle muscle weakness Bilateral single transverse palmar creases Hyperreflexia Intellectual disability, profound Postaxial hand polydactyly Difficulty running Limb undergrowth Limitation of joint mobility Postaxial polydactyly Hirsutism Thin vermilion border Micromelia Left ventricular failure Neonatal hypotonia Upslanted palpebral fissure Constipation Clinodactyly of the 5th finger Clitoral hypertrophy Multiple joint contractures Thick anterior alveolar ridges Accessory oral frenulum Midline facial capillary hemangioma Congenital muscular dystrophy Right-to-left shunt Hypoplasia of the ear cartilage Renal cortical cysts Conotruncal defect Pseudohypoaldosteronism Female pseudohermaphroditism Metopic synostosis Toe walking Abnormality of the anus Broad alveolar ridges Biparietal narrowing Medulloblastoma Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the helix Abnormal hair pattern Postaxial foot polydactyly Calf muscle hypertrophy Anal stenosis Difficulty climbing stairs Vertebral fusion Ulnar deviation of finger Dislocated radial head Gingival overgrowth Shoulder dislocation Peripheral neuropathy Aortic regurgitation Severe intrauterine growth retardation Arnold-Chiari type I malformation Severe combined immunodeficiency Syringomyelia Long nose Combined immunodeficiency Anophthalmia Language impairment Joint hyperflexibility Bilateral ptosis Pyloric stenosis Narrow palpebral fissure Hydrocele testis Pointed chin Hemolytic anemia Psychosis Underdeveloped nasal alae Renal cyst Tapered finger Full cheeks Attention deficit hyperactivity disorder Coloboma Autistic behavior Deeply set eye Multiple renal cysts Optic nerve coloboma Macrotia Abnormality of the odontoid process Abnormality of the outer ear Anomalous pulmonary venous return Situs inversus totalis Urogenital fistula Large fontanelles Renal dysplasia Cervical C2/C3 vertebral fusion Small nail Ambiguous genitalia Hypoplasia of penis Block vertebrae Intestinal malrotation Pulmonary artery atresia Pulmonary hypoplasia Tachycardia Anal atresia Facial asymmetry Rib segmentation abnormalities Hydronephrosis Arrhythmia Hypothyroidism Arthralgia Absent nasal bridge Widely-spaced maxillary central incisors Chorioretinitis EEG abnormality Gastroesophageal reflux Rib fusion Bladder diverticulum Supernumerary nipple Progressive sensorineural hearing impairment Elbow dislocation Prematurely aged appearance Abnormality of the genitourinary system Scrotal hypoplasia Spontaneous abortion Pulmonary artery stenosis Highly arched eyebrow Premature skin wrinkling Cor pulmonale Ileus Irregular vertebral endplates Arterial stenosis Ascending tubular aorta aneurysm Dermal translucency Vascular tortuosity Congenital hemolytic anemia Intellectual disability, moderate Supravalvular aortic stenosis Telecanthus Arterial fibromuscular dysplasia Bowel diverticulosis Renal diverticulum Delayed cranial suture closure Broad foot Autism Myopia Hyperactivity Overgrowth Obesity Oligohydramnios Recurrent infections Microphthalmia Immunodeficiency Bilateral sensorineural hearing impairment Intellectual disability, mild Behavioral abnormality Ventriculomegaly Abnormality of the face Bilateral cleft lip Aortic aneurysm Emphysema Prominent coccyx Urethral valve Caudal appendage Penoscrotal hypospadias Epicanthus inversus Skin dimples Bilateral conductive hearing impairment Bilateral cleft lip and palate Diastasis recti Short 5th finger Tachypnea Laryngomalacia Visual impairment Lymphedema Thoracic hypoplasia Bilateral talipes equinovarus Metatarsus adductus Spondyloepiphyseal dysplasia Patent foramen ovale Hyperextensible skin Bicuspid aortic valve Sandal gap Accelerated skeletal maturation Elbow flexion contracture Meningitis Rhizomelia Confusion Amblyopia Abnormal form of the vertebral bodies Mitral regurgitation Blue sclerae Low posterior hairline Mitral valve prolapse Microdontia Webbed neck Esotropia Thick eyebrow Genu valgum Congenital glaucoma Narrow nasal bridge Narrow chest Depressivity Spasticity Nystagmus Ataxia Bilateral elbow dislocations Metacarpophalangeal joint hyperextensibility Broad distal phalanges of all fingers Spatulate thumbs Prominent antitragus Enlarged metaphyses Accessory carpal bones Hypertropia Multiple joint dislocation Aortic root aneurysm Talipes equinovalgus Knee dislocation Lumbar scoliosis Abnormality of the abdominal wall Endocardial fibroelastosis Deep palmar crease Small face Generalized osteoporosis 11 pairs of ribs Overlapping fingers Abnormally large globe Upper limb undergrowth Abnormality of the foot Hypermetropia Disproportionate short-trunk short stature Double outlet right ventricle Cavernous hemangioma Ureteropelvic junction obstruction Abnormality of the pancreas Rectovaginal fistula Duodenal atresia Tracheal stenosis Single umbilical artery Aplasia/Hypoplasia of the lungs Esophageal atresia Anencephaly Abnormality of the ureter Wheezing Supernumerary ribs Occipital encephalocele Transposition of the great arteries Abnormality of the sternum Meningocele Hypoplastic left heart Right bundle branch block Bundle branch block Ectopic kidney Dextrocardia Preaxial hand polydactyly Tracheoesophageal fistula Tethered cord Abnormal sacrum morphology Spina bifida occulta Prominent occiput Pectus carinatum Pes planus Osteopenia Abnormality of the urinary system Narrow mouth Cerebral cortical atrophy Glaucoma Brachycephaly Prominent forehead Short thorax Frontal bossing Fever Abnormality of the nasopharynx Patent urachus Asymmetric crying face Abnormal tracheobronchial morphology Perineal fistula Potter facies Abnormality of the gallbladder Absence of the sacrum Anorectal anomaly Abnormality of the urethra Lower limb undergrowth Vertebral clefting Laryngeal stenosis Reduced muscle fiber merosin



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