Congestive heart failure, and Omphalocele

Diseases related with Congestive heart failure and Omphalocele

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

Top matches:

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

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

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

Other less relevant matches:

High 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

Juvenile polyposis syndrome is an autosomal dominant condition that predisposes gene carriers to various types of tumors. The diagnosis is based on the occurrence of hamartomatous gastrointestinal polyps that turn into malignant lesions in approximately 20% of cases (Handra-Luca et al., 2005).It had been suggested that juvenile polyposis can be caused by mutations in the PTEN gene (OMIM ), the same gene that is mutant in Cowden syndrome-1 (OMIM ). In a comprehensive review of PTEN, Waite and Eng (2002) concluded that juvenile intestinal polyposis is not a so-called PTEN hamartoma-tumor syndrome (PHTS). They suggested that the discovery of the germline PTEN mutation in an individual considered to have JPS should raise a suspicion that the clinical diagnosis is incorrect and that such an individual should be managed medically in the same manner as all patients with PHTS.

JUVENILE POLYPOSIS SYNDROME; JPS Is also known as polyposis, juvenile intestinal|pji|jip|juvenile intestinal polyposis|polyposis, familial, of entire gastrointestinal tract

Related symptoms:

  • Seizures
  • Neoplasm
  • Failure to thrive
  • Pain
  • Cryptorchidism


SOURCES: OMIM MENDELIAN

More info about JUVENILE POLYPOSIS SYNDROME; JPS

Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D

Adams-Oliver syndrome (AOS) is a rare developmental disorder defined by the combination of aplasia cutis congenita of the scalp vertex and terminal transverse limb defects (e.g., amputations, syndactyly, brachydactyly, or oligodactyly). In addition, vascular anomalies such as cutis marmorata telangiectatica congenita, pulmonary hypertension, portal hypertension, and retinal hypervascularization are recurrently seen. Congenital heart defects have been estimated to be present in 20% of AOS patients; reported malformations include ventricular septal defects, anomalies of the great arteries and their valves, and tetralogy of Fallot (summary by Stittrich et al., 2014).For a discussion of genetic heterogeneity of Adams-Oliver syndrome, see AOS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Muscle weakness
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about ADAMS-OLIVER SYNDROME 5; AOS5

Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

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

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

AARSKOG-SCOTT SYNDROME Is also known as aarskog syndrome|faciodigitogenital syndrome|faciogenital dysplasia

Related symptoms:

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism


SOURCES: ORPHANET MENDELIAN

More info about AARSKOG-SCOTT SYNDROME

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

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Umbilical hernia Common - Between 50% and 80% cases
Abnormality of cardiovascular system morphology Uncommon - Between 30% and 50% cases
Ventricular septal defect Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Short stature Global developmental delay Cleft palate Failure to thrive Finger syndactyly Low-set, posteriorly rotated ears Abnormal heart morphology Seizures Anteverted nares Wide nasal bridge Microcephaly Congenital diaphragmatic hernia Inguinal hernia Hypertension Epicanthus Scoliosis Generalized hypotonia Growth delay Hypertelorism Clinodactyly Intrauterine growth retardation Hepatomegaly Brachydactyly Low-set ears Pectus excavatum Clinodactyly of the 5th finger Cutis laxa Syndactyly Talipes equinovarus Preaxial polydactyly Polydactyly Abnormality of the genital system Strabismus Motor delay Short neck Long philtrum Patent ductus arteriosus Cognitive impairment Atrial septal defect Oral cleft Craniosynostosis Talipes Hypospadias Postnatal growth retardation

Rare Symptoms - Less than 30% cases

Joint hyperflexibility Hirsutism Hepatic failure Portal hypertension Respiratory tract infection Macrotia Nephropathy Everted lower lip vermilion Single transverse palmar crease Polyhydramnios Micrognathia Protruding ear Pneumonia Limb undergrowth Abnormality of the kidney Depressed nasal bridge Respiratory failure Short thorax Cardiomyopathy Hypertrophic cardiomyopathy Downslanted palpebral fissures Triangular face Cavernous hemangioma Prominent occiput Abnormality of female internal genitalia Micropenis Telecanthus Radial deviation of finger Redundant skin Flexion contracture Cleft upper lip Anemia Blepharophimosis Abnormal cardiac septum morphology Abnormality of the intervertebral disk Attention deficit hyperactivity disorder Small nail Cleft lip Right bundle branch block Bundle branch block Abnormality of immune system physiology Macrocephaly Abnormal vertebral morphology Vertebral segmentation defect Broad foot Shawl scrotum Spina bifida Bifid scrotum Hemivertebrae Multicystic kidney dysplasia Radioulnar synostosis Abnormality of the ribs Clitoral hypertrophy Ptosis Splenomegaly Camptodactyly of finger Abnormality of the dentition Abnormal facial shape Broad forehead Small hand Tetralogy of Fallot Renal agenesis Stroke High palate Camptodactyly Wide nasal base Bulbous nose Entropion Polymicrogyria Narrow naris Pulmonic stenosis Cavum septum pellucidum Sepsis Retrognathia Abnormality of the cerebral white matter Disproportionate tall stature Severe global developmental delay Gliosis Mask-like facies Focal-onset seizure Convex nasal ridge Sloping forehead Proximal muscle weakness Encephalopathy Muscle weakness Pointed chin Narrow palpebral fissure Focal impaired awareness seizure Hyperactivity Myopathy Delayed eruption of teeth External ear malformation Abdominal pain Telangiectasia Epistaxis Cyanosis Gastrointestinal hemorrhage Chest pain Vertigo Cough Carcinoma Jaundice Dyspnea Headache Hypokalemia Diarrhea Respiratory distress Fatigue Pain Neoplasm Fused sternal ossification centers Thick anterior alveolar ridges Midline facial capillary hemangioma Right-to-left shunt Hypoplasia of the ear cartilage Renal cortical cysts Diplopia Hypoalbuminemia Hypoplasia of the corpus callosum Melena Ventriculomegaly Delayed speech and language development Cataract Hepatic vascular malformations Adenocarcinoma of the colon Duodenal adenocarcinoma Genu recurvatum Multiple gastric polyps Hip dysplasia High anterior hairline Intussusception Hematemesis Clubbing Hamartomatous polyposis Stomach cancer Rectal prolapse Intestinal polyposis Clubbing of fingers Hematochezia Abnormality of the cervical spine Hemoptysis Polycythemia Hamartoma Colon cancer Ascites Calcinosis Coarctation of aorta Decreased fertility in females Kyphosis Respiratory insufficiency Generalized muscular appearance from birth Labial hypertrophy Cystic angiomatosis of bone Reduced intrathoracic adipose tissue Insulin-resistant diabetes mellitus at puberty Prominent umbilicus Decreased serum leptin Congenital generalized lipodystrophy Generalized lipodystrophy Severe short stature Acute pancreatitis Glioma Bone cyst Abnormality of the ovary Angina pectoris Long foot Oligomenorrhea Abnormality of lipid metabolism Insulin-resistant diabetes mellitus Lipoatrophy Recurrent respiratory infections Kyphoscoliosis High pitched voice Rib fusion Hypoplasia of the maxilla Short palm Pes planus Behavioral abnormality Rib segmentation abnormalities Abnormality of the odontoid process Block vertebrae Cervical C2/C3 vertebral fusion Urogenital fistula Anomalous pulmonary venous return Disproportionate short-trunk short stature Hyperlordosis Meningocele Double outlet right ventricle Abnormality of the ureter Abnormality of the urinary system Spina bifida occulta Round face Scapular winging Hyperextensible skin Broad palm Abnormal form of the vertebral bodies Confusion Polyphagia Skeletal muscle hypertrophy Pulmonary arterial hypertension Dystrophic toenail Prominent scalp veins Portal vein thrombosis Pseudohypoaldosteronism Megalocornea Hypersplenism Aplasia cutis congenita of scalp Right ventricular failure Esophageal varix Prominent superficial veins Short foot Right ventricular hypertrophy Chronic hepatic failure Progressive proximal muscle weakness Oligodactyly Aplasia cutis congenita Spastic diplegia Abnormality of the coagulation cascade Cutis marmorata Patent foramen ovale Ischemic stroke Hyperammonemia Ventricular hypertrophy Cutis marmorata telangiectatica congenita Calcinosis cutis Large hands Hypertriglyceridemia Lipodystrophy Hyperinsulinemia Polycystic ovaries Hyperlipidemia Acanthosis nigricans Accelerated skeletal maturation Insulin resistance Nephrolithiasis Tall stature Hypertrichosis Epidermal acanthosis Right atrial enlargement Hepatic steatosis Cirrhosis Autoimmunity Elevated hepatic transaminase Hepatosplenomegaly Mandibular prognathia Diabetes mellitus Hyperhidrosis Dilatation Intellectual disability, mild Peripheral neuropathy Conotruncal defect Neonatal hypotonia Female pseudohermaphroditism Abnormality of dental morphology Anodontia Tubulointerstitial nephritis Taurodontia Scaphocephaly Protuberant abdomen Fibular hypoplasia Short humerus High hypermetropia Thoracic hypoplasia Cupped ear Abnormal toenail morphology Chronic kidney disease Bicuspid aortic valve Widely spaced teeth Abnormality of the fingernails Abnormality of dental enamel Hypocalcemia Short ribs Short toe Hepatic fibrosis Rhizomelia Elevated serum creatinine Slow-growing hair Abnormality of the metaphysis Broad distal phalanges of all fingers Vesicoureteral reflux Pulmonary hypoplasia Tachycardia Anal atresia Facial asymmetry Hydronephrosis Hydrocephalus Dysphagia Malformation of the hepatic ductal plate Incisional hernia Sagittal craniosynostosis Renal magnesium wasting Broad toe Tubulointerstitial abnormality Short nail Interstitial pneumonitis Thin nail Flattened epiphysis Abnormality of the abdominal wall Abnormal diaphysis morphology Hepatic cysts Hypoplasia of dental enamel Fine hair Premature birth Epiphyseal dysplasia Bilateral conductive hearing impairment Bilateral cleft lip and palate Diastasis recti Short 5th finger Bilateral cleft lip Irregular vertebral endplates Facial cleft Supernumerary nipple Elbow dislocation Abnormality of the genitourinary system Epicanthus inversus Scrotal hypoplasia Spontaneous abortion Wormian bones Edema Highly arched eyebrow Abnormality of the pinna Intellectual disability, moderate Muscular hypotonia of the trunk Conductive hearing impairment Depressivity Skin dimples Penoscrotal hypospadias Hypotelorism Sparse hair Microdontia Ectodermal dysplasia Full cheeks Hypodontia High, narrow palate Retinal dystrophy Short distal phalanx of finger Stage 5 chronic kidney disease Narrow chest Dolichocephaly Joint laxity Caudal appendage Photophobia High forehead Osteoporosis Renal insufficiency Abnormality of the skeletal system Frontal bossing Myopia Nystagmus Prominent coccyx Urethral valve Intestinal malrotation Hypoplasia of penis Metopic synostosis Proptosis Short metacarpal Limitation of joint mobility Postaxial polydactyly Thin vermilion border Micromelia Smooth philtrum Toe syndactyly Hip dislocation Wide mouth Upslanted palpebral fissure Intellectual disability, profound Posteriorly rotated ears Agenesis of corpus callosum Constipation Delayed skeletal maturation Short nose Intellectual disability, severe Hearing impairment Muscular hypotonia Patent urachus Asymmetric crying face Postaxial hand polydactyly Gingival overgrowth Perineal fistula Dislocated radial head Abnormality of the anus Accessory oral frenulum Broad alveolar ridges Medulloblastoma Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the helix Abnormal hair pattern Postaxial foot polydactyly Anal stenosis Ulnar deviation of finger Biparietal narrowing Bilateral single transverse palmar creases Multiple joint contractures Trigonocephaly Hand polydactyly Failure to thrive in infancy Renal hypoplasia/aplasia Sacral dimple Aplasia/Hypoplasia of the corpus callosum Short chin Joint dislocation Horseshoe kidney Abnormal tracheobronchial morphology Potter facies Ambiguous genitalia Triphalangeal thumb Transposition of the great arteries Abnormality of the sternum Non-midline cleft lip Hypoplastic left heart Ectopic kidney Dextrocardia Preaxial hand polydactyly Tracheoesophageal fistula Unilateral renal agenesis Laryngomalacia Wheezing Hypoplasia of the radius Tachypnea Abnormality of the outer ear Situs inversus totalis Preauricular skin tag Short thumb Large fontanelles Renal dysplasia Recurrent urinary tract infections Choanal atresia Occipital encephalocele Absent radius Abnormality of the gallbladder Tethered cord Hemifacial hypoplasia Absence of the sacrum Anorectal anomaly Abnormality of the urethra Lower limb undergrowth Vertebral clefting Laryngeal stenosis Abnormality of the nasopharynx Abnormal sacrum morphology Supernumerary ribs Ureteropelvic junction obstruction Aplasia/Hypoplasia of the radius Abnormality of the pancreas Atelectasis Rectovaginal fistula Duodenal atresia Tracheal stenosis Single umbilical artery Missing ribs Aplasia/Hypoplasia of the lungs Esophageal atresia Anencephaly Abnormal vertebral segmentation and fusion


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