Hepatomegaly, and Omphalocele

Diseases related with Hepatomegaly and Omphalocele

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

Top matches:

Related symptoms:

  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Hepatomegaly
  • Ventricular septal defect


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

GREENBERG DYSPLASIA Is also known as skeletal dysplasia, greenberg type|hem dysplasia|moth-eaten skeletal dysplasia|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|chondrodystrophy, hydropic and prenatally le

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GREENBERG DYSPLASIA

Other less relevant matches:

Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

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

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

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

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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Omphalocele

Symptoms // Phenotype % cases
Polyhydramnios Common - Between 50% and 80% cases
Polydactyly Common - Between 50% and 80% cases
Cleft palate Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Cryptorchidism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Enlarged kidney

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly Large for gestational age Diastasis recti Seizures Generalized hypotonia Macroglossia Brachydactyly Macrocephaly Limb undergrowth Epicanthus Abnormality of cardiovascular system morphology Postaxial polydactyly Hypoglycemia Global developmental delay Umbilical hernia Intellectual disability Inguinal hernia Ventricular septal defect Abnormal facial shape Edema Low-set ears Wide nasal bridge Patent ductus arteriosus Protuberant abdomen Postaxial hand polydactyly Abnormal heart morphology Redundant skin Broad palm Neuroblastoma Proptosis Coarse facial features Renal cyst Hemihypertrophy Short nose Nevus flammeus Wide mouth Nephroblastoma Visceromegaly Short neck Neoplasm Pulmonary hypoplasia Overgrowth Embryonal neoplasm Neonatal hypoglycemia Cardiomegaly Accelerated skeletal maturation Congenital diaphragmatic hernia Hypertension Intestinal malrotation Intrauterine growth retardation Craniosynostosis Short ribs Clinodactyly of the 5th finger Pectus excavatum Hernia Posterior helix pit Multicystic kidney dysplasia Upslanted palpebral fissure Hypothyroidism Hepatoblastoma Anteverted nares Respiratory failure Muscular hypotonia Prominent occiput Micromelia Abnormality of the kidney Anterior creases of earlobe Narrow chest Abdominal wall defect Dandy-Walker malformation Rhabdomyosarcoma Abnormality of the outer ear Abnormality of the face Premature birth Cleft lip Strabismus Syndactyly Short toe Micrognathia Midface retrusion Clinodactyly Talipes equinovarus High forehead Depressed nasal bridge

Rare Symptoms - Less than 30% cases

Bilateral single transverse palmar creases Nephroblastomatosis Neurological speech impairment Tall stature Nephrolithiasis Renal cortical cysts Nephropathy Large fontanelles Scoliosis Myopia Vesicoureteral reflux Pancreatic cysts Intellectual disability, severe Short thorax Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the helix Nystagmus Cutis laxa Abnormality of the pinna Talipes Frontal bossing Relative macrocephaly Respiratory distress Hydrocephalus Low-set, posteriorly rotated ears Toe syndactyly Thin vermilion border Cystic renal dysplasia Abnormality of the genital system Polysplenia Posteriorly rotated ears Obesity Ascites Oral cleft Hyperactivity Cleft upper lip Short palm Short foot Single transverse palmar crease Hepatic fibrosis Agenesis of corpus callosum Renal dysplasia Renal hypoplasia Mandibular prognathia Respiratory insufficiency Pancreatic islet-cell hyperplasia Hypercalciuria Congestive heart failure Broad toe Nonimmune hydrops fetalis Microcephaly Growth delay High palate Abnormality of the skeletal system Postaxial foot polydactyly Abnormal lung lobation Abnormality of the dentition High, narrow palate Supernumerary nipple Cystic hygroma Abnormality of earlobe Thoracic hypoplasia Disproportionate short-limb short stature Prune belly Abnormality of the fingernails Short distal phalanx of finger Finger syndactyly Hydrops fetalis Adrenocortical cytomegaly Rhizomelia Hearing impairment Prominent metopic ridge Radial deviation of finger Gonadoblastoma Ureteral duplication Hydronephrosis Facial asymmetry Auricular pit Atrial septal defect Cardiomyopathy Adrenocortical carcinoma Hypospadias Broad foot Cupped ear Slow-growing hair Sagittal craniosynostosis Abnormal toenail morphology Thymus hyperplasia Elevated serum creatinine Hepatic cysts Abdominal mass Chronic kidney disease Abnormal diaphysis morphology Flank pain Anodontia Opsoclonus Ganglioneuroma Short humerus Abnormality of dental morphology High hypermetropia Tubulointerstitial nephritis Diaphragmatic eventration Abnormality of the abdominal wall Scaphocephaly Teratoma Fibular hypoplasia Taurodontia Hamartoma Flattened epiphysis Intellectual disability, moderate Pain Polycystic kidney dysplasia Intellectual disability, mild Myoclonus Conductive hearing impairment Carcinoma Attention deficit hyperactivity disorder Malformation of the hepatic ductal plate Joint hypermobility Postural instability Growth abnormality Abdominal distention Nephrocalcinosis Recurrent urinary tract infections Prominent supraorbital ridges Broad distal phalanges of all fingers Unilateral cryptorchidism Thin nail Abnormality of the tongue Hypoplasia of the thymus Ketosis Foot polydactyly Aniridia Congenital hypothyroidism Interstitial pneumonitis Incisional hernia Nevus Short nail Tubulointerstitial abnormality Tibial bowing Abnormality of the ear Large hands Renal magnesium wasting Vitreomacular adhesion Failure to thrive in infancy Overgrowth of external genitalia Broad thumb Hydroureter Bilateral talipes equinovarus Preauricular pit Abnormality of the voice Abnormality of the hand Narrow palpebral fissure Congenital hip dislocation Cardiac arrest Hoarse voice Preauricular skin tag Cerebral visual impairment Clumsiness Prolonged QT interval Cerebellar vermis hypoplasia Small nail Abnormality of the ribs Hypoplasia of penis Nail dysplasia Webbed neck Dental malocclusion Bifid uvula Broad nasal tip Retinal detachment Thick vermilion border Bundle branch block Vertebral segmentation defect Pulmonic stenosis Short 2nd finger Cyst of the ductus choledochus Cleft lower lip Submucous cleft lip Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Broad secondary alveolar ridge Narrow sacroiliac notch 2-3 finger syndactyly Short sacroiliac notch Penoscrotal hypospadias Vertebral fusion Meckel diverticulum Cervical ribs Chordee Increased IgE level Ankyloglossia Flared iliac wings Furrowed tongue Renal neoplasm Duodenal atresia Low hanging columella Transposition of the great arteries Abnormality of digit Wide nose Congenital cataract Pancreatic hyperplasia Smooth philtrum Sacral dimple Aplasia/Hypoplasia of the corpus callosum Short chin Joint dislocation Horseshoe kidney Gingival overgrowth Intellectual disability, profound Tetralogy of Fallot Short metacarpal Limitation of joint mobility Hirsutism Hip dislocation Hand polydactyly Neonatal hypotonia Constipation Delayed skeletal maturation Long philtrum Motor delay Flexion contracture Failure to thrive Short stature Congenital mesoblastic nephroma Pancreatoblastoma Fibrous hamartoma Renal hypoplasia/aplasia Trigonocephaly Camptodactyly of finger Pseudohypoaldosteronism Irritability Arrhythmia Blindness Downslanted palpebral fissures Cataract Fused sternal ossification centers Thick anterior alveolar ridges Midline facial capillary hemangioma Right-to-left shunt Hypoplasia of the ear cartilage Conotruncal defect Female pseudohermaphroditism Clitoral hypertrophy Metopic synostosis Abnormality of the anus Accessory oral frenulum Broad alveolar ridges Medulloblastoma Abnormal hair pattern Anal stenosis Ulnar deviation of finger Abnormality of immune system physiology Dislocated radial head Biparietal narrowing Multiple joint contractures Bicuspid aortic valve Prominent nose Widely spaced teeth Abnormality of cholesterol metabolism Abnormality of the calcaneus Punctate vertebral calcifications Abnormal foot bone ossification Hepatic calcification Abnormal pelvis bone ossification Absent or minimally ossified vertebral bodies Short diaphyses Horizontal sacrum Abnormality of the scapula Abnormality of the orbital region Laryngeal calcification Ectopic ossification Aplasia/hypoplasia of the extremities Abnormal leukocyte morphology Severe hydrops fetalis Severe short-limb dwarfism Abnormally ossified vertebrae Multiple prenatal fractures Abnormal bone ossification Absent toenail Tracheal calcification Abnormality of the vertebral spinous processes Sclerosis of skull base Anal atresia Generalized hyperpigmentation Macular dystrophy Premature graying of hair Hemivertebrae Muscle stiffness Thickened skin Depressed nasal ridge Specific learning disability Hypopigmentation of the skin Rigidity Supernumerary vertebral ossification centers Recurrent respiratory infections Cerebellar hypoplasia Tremor Optic atrophy Spasticity Ataxia Patchy variation in bone mineral density Sternal punctate calcifications Anterior rib punctate calcifications Abnormal ossification involving the femoral head and neck Vertebral hypoplasia Hypoplastic vertebral bodies Rib fusion Skin tags Abnormal form of the vertebral bodies Hypoplasia of the maxilla Platyspondyly Hepatosplenomegaly Skeletal dysplasia Severe short stature Malar flattening Postauricular pit Tethered cord Abnormality of the vasculature Short phalanx of finger Central hypotonia Syringomyelia Psoriasiform dermatitis Apnea Abnormality of the ureter Autistic behavior Micropenis Delayed speech and language development Muscle weakness Bowing of the long bones Lymphedema Long clavicles Decreased skull ossification Ectopic calcification Diaphyseal thickening Metaphyseal cupping Extramedullary hematopoiesis Ulnar deviation of the hand Lethal skeletal dysplasia 11 pairs of ribs Large forehead Hypoplastic fingernail Misalignment of teeth Bone marrow hypocellularity Calvarial skull defect Preeclampsia Barrel-shaped chest Epiphyseal stippling Abnormal joint morphology Narrow nasal bridge Mesomelia Flared metaphysis Pleural effusion Sandal gap Broad neck Oxycephaly Abnormality of dental enamel Elevated alpha-fetoprotein Abnormality of the shape of the midface Abnormality of pancreas morphology Congenital megaureter Large placenta Branchial cyst Infra-orbital crease Facial hemangioma Urogenital fistula Leiomyosarcoma Choroideremia Subchorionic septal cyst Asymmetric growth Pseudohypoparathyroidism Otosclerosis Multiple renal cysts Exocrine pancreatic insufficiency Polycythemia Neurodevelopmental delay Melanocytic nevus Arnold-Chiari malformation Large intestinal polyposis Renal insufficiency Wide anterior fontanel Everted lower lip vermilion Hypocalcemia Hypoplasia of dental enamel Abnormality of the metaphysis Fine hair Hypotelorism Microdontia Ectodermal dysplasia Full cheeks Hypodontia Retinal dystrophy Osteoporosis Hepatic failure Stage 5 chronic kidney disease Joint hyperflexibility Dolichocephaly Sparse hair Protruding ear Postnatal growth retardation Joint laxity Telecanthus Photophobia Sleep apnea Long face Subcortical cerebral atrophy Ambiguous genitalia Short finger Milia Bowing of the legs Metaphyseal irregularity Anophthalmia Preaxial polydactyly Patent foramen ovale Short long bone Holoprosencephaly Wide intermamillary distance Hypoplastic nipples Flat face Extrapulmonary sequestrum Hypoplastic colon Hypoplasia of the small intestine Aplasia/Hypoplasia of the macula Cerebral cortical hemiatrophy Pancreatic fibrosis Abnormality of the cerebellar vermis Lymphangioma Natal tooth Anencephaly Poor speech Hamartoma of tongue Feeding difficulties in infancy Hypertrophic cardiomyopathy Autism Absent internal genitalia Intrahepatic bile duct cysts Bowing of the arm Pancreatic dysplasia Fetal ascites Periportal fibrosis Lobulated tongue Median cleft lip Accessory spleen Horizontal ribs Median cleft lip and palate Atelectasis Bifid tongue Preaxial foot polydactyly Thoracic dysplasia Hypoplastic scapulae Single umbilical artery Microglossia Two carpal ossification centers present at birth


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