Cardiomyopathy, and Omphalocele

Diseases related with Cardiomyopathy and Omphalocele

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


Top matches:

Medium match HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6


Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 6; CHNG6

Medium match SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Medium match BECKWITH-WIEDEMANN SYNDROME; BWS


Beckwith-Wiedemann syndrome is a pediatric overgrowth disorder involving a predisposition to tumor development. The clinical presentation is highly variable; some cases lack the hallmark features of exomphalos, macroglossia, and gigantism as originally described by Beckwith (1969) and Wiedemann (1969) (summary by Weksberg et al., 2010).Mussa et al. (2016) provided a review of Beckwith-Wiedemann syndrome, including the wide spectrum of phenotypic manifestations, delineation of the frequencies of manifestations according to genotype, and discussion of the molecular and epigenetic defects that underlie the disorder.

BECKWITH-WIEDEMANN SYNDROME; BWS Is also known as emg syndrome|exomphalos-macroglossia-gigantism syndrome|wiedemann-beckwith syndrome|wbs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME; BWS

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Other less relevant matches:

Medium match SIMPSON-GOLABI-BEHMEL SYNDROME


Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Low match PENOSCROTAL TRANSPOSITION


Penoscrotal transposition (PST) is a rare congenital genital anomaly in which the scrotum is positioned superior and anterior to the penis. PST may present with a broad spectrum of anomalies ranging from simple shawl scrotum (doughnut scrotum) to very complex extreme transposition with craniofacial, central nervous system, cardiac, gastrointestinal, urological, and other genital (undescended testicles, hypospadias, chordee) malformations. Growth deficiency and intellectual disability may also be noticed (60% of cases).

PENOSCROTAL TRANSPOSITION Is also known as dihydrotestosterone receptor deficiency|testicular feminization syndrome|androgen receptor deficiency|dhtr deficiency|ar deficiency|tfm

Related symptoms:

  • Intellectual disability
  • Neoplasm
  • Micrognathia
  • Cryptorchidism
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PENOSCROTAL TRANSPOSITION

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2


Congenital generalized lipodystrophy (CGL), also known as Berardinelli-Seip syndrome, is an autosomal recessive disorder characterized by marked paucity of adipose tissue, extreme insulin resistance, hypertriglyceridemia, hepatic steatosis and early onset of diabetes (Garg, 2004).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2 Is also known as berardinelli-seip congenital lipodystrophy, type 2|brunzell syndrome, bscl2-related|lipoatrophic diabetes, congenital|seip syndrome|lipodystrophy, total, and acromegaloid gigantism|lipodystrophy, berardinelli-seip congenital, type 2|berardinelli syndrome

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Hepatomegaly
  • Cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 2; CGL2

Low match CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D


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

Low match EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE


Ehlers-Danlos syndrome, kyphoscoliotic and deafness type is a form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment.

EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE Is also known as ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss|ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness|edskmh|eds with progressive kyphoscoliosis, myopathy, and deafness|eds, kyphoscoliotic and he

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, KYPHOSCOLIOTIC AND DEAFNESS TYPE

Low match LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE


Lethal polymalformative syndrome, Boissel type is a rare, genetic, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by failure to thrive, severe developmental delay, severe postanatal microcephaly, frequent congenital cardiac defects and characteristic facial dysmorphysm (including coarse face with anteverted nostrils, thin vermillion, prominent alveolar ridge and retro- or micrognatia). Additional common features include neurologic abnormalities (hyper-/hypotonia, sensorineural deafness, hydrocephalus, cerebral atrophy, seizures), as well as brachydactyly, cutis marmorata and genital anomalies.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LETHAL POLYMALFORMATIVE SYNDROME, BOISSEL TYPE

Low match MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C


Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Omphalocele

Symptoms // Phenotype % cases
Hernia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Umbilical hernia Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Omphalocele. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Hepatomegaly Inguinal hernia Coarse facial features Macroglossia Hearing impairment Hypertelorism Hypertrophic cardiomyopathy Wide mouth Obesity Accelerated skeletal maturation Cleft palate Neoplasm Global developmental delay Splenomegaly Macrocephaly Abnormal facial shape Motor delay Talipes equinovarus Hypothyroidism Hepatoblastoma Posterior helix pit Hyperactivity Anteverted nares Epicanthus Mandibular prognathia Polyhydramnios Diastasis recti Wide nasal bridge Ventricular septal defect Nephrolithiasis Hypoglycemia Depressed nasal bridge Nephroblastoma Dandy-Walker malformation Proptosis Large for gestational age Growth abnormality Prominent occiput Hypertension Relative macrocephaly Neuroblastoma Abnormality of the genital system Patent ductus arteriosus Enlarged kidney Atrial septal defect Tall stature

Rare Symptoms - Less than 30% cases


Macrotia Intrauterine growth retardation Micrognathia Bifid uvula Scoliosis Renal dysplasia Adrenocortical cytomegaly Short nose Hypertrichosis Triangular face Small nail Adrenocortical carcinoma Hirsutism Intellectual disability, mild Short neck Flexion contracture Overgrowth Failure to thrive Microcephaly Embryonal neoplasm Retrognathia Hypospadias Sloping forehead Cutis laxa Clinodactyly of the 5th finger Disproportionate tall stature Broad palm Sensorineural hearing impairment Large hands Kyphoscoliosis Abnormal heart morphology Nephroblastomatosis Low-set ears Downslanted palpebral fissures Hypoplasia of the corpus callosum Rhabdomyosarcoma Renal cyst Postaxial polydactyly Thin vermilion border Hydrocephalus Joint hypermobility Penoscrotal transposition Hydronephrosis Polydactyly Pseudohypoparathyroidism Hemihypertrophy Ureteral duplication Congenital hip dislocation Cardiomegaly Congenital diaphragmatic hernia Vesicoureteral reflux Neurological speech impairment Visceromegaly Abnormality of cardiovascular system morphology Congenital hypothyroidism Hoarse voice Bundle branch block Clumsiness Micropenis Intellectual disability, moderate Penoscrotal hypospadias Elevated serum creatine phosphokinase Cognitive impairment Growth delay Large fontanelles Midface retrusion Hypercalciuria Prominent metopic ridge Gonadoblastoma Cataract Narrow palpebral fissure Nevus flammeus Neonatal hypoglycemia Muscular hypotonia Epidermal acanthosis Ambiguous genitalia Decreased serum leptin Prominent umbilicus Insulin-resistant diabetes mellitus at puberty Bifid scrotum Labial hypertrophy Bilateral single transverse palmar creases Reduced intrathoracic adipose tissue Dimple chin Gynecomastia Abnormality of the urethra Cystic angiomatosis of bone Nephrogenic diabetes insipidus Generalized muscular appearance from birth Primary amenorrhea Renal agenesis Congenital generalized lipodystrophy Strabismus Wide intermamillary distance Pectus carinatum Cirrhosis Elevated hepatic transaminase Pancreatitis Cerebral cortical atrophy Two carpal ossification centers present at birth Scrotal hypospadias Cyst of the ductus choledochus Cleft lower lip Submucous cleft lip Acanthosis nigricans Incomplete male pseudohermaphroditism Diabetes insipidus Blind vagina Polycystic ovaries Absent facial hair Lipodystrophy Hyperinsulinemia Abnormal external genitalia Perineal hypospadias Elevated circulating luteinizing hormone level Female external genitalia in individual with 46,XY karyotype Aplasia of the uterus Clitoral hypertrophy Menstrual irregularities Skeletal muscle hypertrophy High pitched voice Polyphagia Patellar aplasia Decreased fertility Elevated circulating follicle stimulating hormone level Abnormality of the ureter Labial hypoplasia Hypertriglyceridemia Hepatic steatosis Lipoatrophy Sparse pubic hair Long foot Sparse axillary hair Male pseudohermaphroditism Bone cyst Thick hair Acute pancreatitis Insulin resistance Generalized lipodystrophy Decreased fertility in females Shawl scrotum Scarring Delayed speech and language development Delayed myelination Severe failure to thrive Protruding tongue Cutis marmorata Failure to thrive in infancy Lissencephaly Short chin Left ventricular hypertrophy Ventricular hypertrophy Severe global developmental delay Skull asymmetry Absent speech Long philtrum Hypertonia Brachydactyly Aortic rupture Abnormal eye morphology Arterial rupture High-frequency sensorineural hearing impairment Keloids Periorbital fullness Dysphagia Cleft soft palate Recurrent upper respiratory tract infections Dense calvaria Ovoid thoracolumbar vertebrae Thickened ribs Heparan sulfate excretion in urine Asymmetric septal hypertrophy Motor deterioration Dysostosis multiplex Loss of speech Restlessness Coarse hair Diarrhea Sleep disturbance Everted lower lip vermilion Synophrys Dolichocephaly Joint stiffness Respiratory tract infection Hepatosplenomegaly Rod-cone dystrophy Behavioral abnormality Bladder diverticulum Follicular hyperkeratosis Ventriculomegaly Convex nasal ridge Narrow naris Wide nasal base Cavum septum pellucidum Entropion Right bundle branch block Mask-like facies Focal impaired awareness seizure Pointed chin Focal-onset seizure Myopia Gliosis Sepsis Polymicrogyria Bulbous nose Blepharophimosis Protruding ear Camptodactyly Pneumonia Congestive heart failure Muscle weakness Skeletal muscle atrophy Soft skin Blue sclerae Atrophic scars Difficulty climbing stairs Congenital muscular dystrophy Increased susceptibility to fractures Poor suck Hyperextensible skin Easy fatigability Poor head control Severe muscular hypotonia Hypotelorism Gait disturbance Waddling gait Microcornea Bruising susceptibility Abnormality of the foot Muscular dystrophy Pes planus Osteopenia Hyperkeratosis Myopathy Six lumbar vertebrae Intestinal malrotation Duplication of renal pelvis Pain Abnormality of the kidney Carcinoma Conductive hearing impairment Respiratory failure Myoclonus Edema Respiratory distress Respiratory insufficiency Subchorionic septal cyst Pulmonary hypoplasia Large intestinal polyposis Abnormality of the shape of the midface Abnormality of pancreas morphology Congenital megaureter Large placenta Branchial cyst Infra-orbital crease Facial hemangioma Attention deficit hyperactivity disorder Postural instability Leiomyosarcoma Protuberant abdomen Diaphragmatic eventration Unilateral cryptorchidism Abnormality of the tongue Pancreatic cysts Hypoplasia of the thymus Nonimmune hydrops fetalis Ketosis Foot polydactyly Aniridia Abdominal distention Hamartoma Tibial bowing Abnormality of the ear Prominent supraorbital ridges Polycystic kidney dysplasia Abnormality of the outer ear Nephrocalcinosis Recurrent urinary tract infections Nevus Urogenital fistula Elevated alpha-fetoprotein Abdominal wall defect Delayed eruption of teeth Long thorax Drowsiness Hypercholesterolemia Coxa vara Wormian bones Increased body weight Broad-based gait Limb undergrowth Flat face No permanent dentition Dry skin Hip dislocation Joint laxity Skeletal dysplasia Constipation Delayed skeletal maturation Dilatation Anemia Thyroid hormone receptor defect Increased T3/T4 ratio Anterior creases of earlobe Melanocytic nevus Choroideremia Asymmetric growth Abnormality of earlobe Otosclerosis Multiple renal cysts Exocrine pancreatic insufficiency Polycythemia Neurodevelopmental delay Redundant skin Autism Arnold-Chiari malformation Sleep apnea Wide anterior fontanel Prominent nose Premature birth Nephropathy Long face Poor speech Feeding difficulties in infancy Teratoma Renal cortical cysts Birth length greater than 97th percentile Cupped ear Abnormality of digit Vertebral fusion Vertebral segmentation defect Prolonged QT interval Supernumerary nipple Hydroureter Bilateral talipes equinovarus Preauricular pit Abnormality of the voice Abnormal lung lobation Abnormality of the hand Multicystic kidney dysplasia Cardiac arrest Short toe Preauricular skin tag Cerebral visual impairment Broad thumb Cerebellar vermis hypoplasia Transposition of the great arteries Broad foot Hypoplasia of penis Pancreatic islet-cell hyperplasia Broad secondary alveolar ridge Narrow sacroiliac notch 2-3 finger syndactyly Short sacroiliac notch Short 2nd finger Broad toe Meckel diverticulum Cervical ribs Chordee Low hanging columella Increased IgE level Ankyloglossia Aplasia/Hypoplasia of the abdominal wall musculature Flared iliac wings Abnormality of the helix Furrowed tongue Renal neoplasm Duodenal atresia Polysplenia Abnormality of the ribs Postaxial hand polydactyly Prune belly Pancreatoblastoma Arrhythmia Pectus excavatum Syndactyly Abnormality of the dentition Blindness Intellectual disability, severe Abnormality of the skeletal system Congenital mesoblastic nephroma Fibrous hamartoma Upslanted palpebral fissure Pancreatic hyperplasia Overgrowth of external genitalia Vitreomacular adhesion Thymus hyperplasia Abdominal mass Opsoclonus Ganglioneuroma Flank pain Agenesis of corpus callosum Cleft lip Nail dysplasia Wide nose Webbed neck Dental malocclusion Short stature Broad nasal tip Short foot Retinal detachment High, narrow palate Thick vermilion border Short distal phalanx of finger Low-set, posteriorly rotated ears Short palm Cleft upper lip Facial asymmetry Pulmonic stenosis Toe syndactyly Congenital cataract Finger syndactyly Camptodactyly of finger Irritability Cellular metachromasia



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