Hepatomegaly, and Dandy-Walker malformation

Diseases related with Hepatomegaly and Dandy-Walker malformation

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

Top matches:

RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

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

Other less relevant matches:

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

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

BOHRING-OPITZ SYNDROME Is also known as c-like syndrome|bos syndrome|bohring syndrome|oberklaid-danks syndrome|opitz trigonocephaly-like syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BOHRING-OPITZ SYNDROME

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON 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

Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms.

CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE Is also known as dihydrofolate reductase deficiency|dhfr deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONSTITUTIONAL MEGALOBLASTIC ANEMIA WITH SEVERE NEUROLOGIC DISEASE

NPHP3-related Meckel-like syndrome is a rare, genetic, syndromic renal malformation characterized by cystic renal dysplasia with or without prenatal oligohydramnios, central nervous system abnormalities (commonly Dandy-Walker malformation), congenital hepatic fibrosis, and absence of polydactyly.

NPHP3-RELATED MECKEL-LIKE SYNDROME Is also known as renal-hepatic-pancreatic dysplasia with dandy-walker cyst|meckel-like syndrome type 1|renal-hepatic-pancreatic dysplasia-dandy-walker cysts syndrome|meckel syndrome type 7|goldston syndrome

Related symptoms:

  • Respiratory insufficiency
  • Atrial septal defect
  • Hypertonia
  • Dilatation
  • Patent ductus arteriosus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NPHP3-RELATED MECKEL-LIKE SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Dandy-Walker malformation

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Polyhydramnios Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Dandy-Walker malformation. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Atrial septal defect

Uncommon Symptoms - Between 30% and 50% cases

Renal cyst Polydactyly Seizures Growth delay Muscular hypotonia Syndactyly Intrauterine growth retardation Intestinal malrotation Cerebellar vermis hypoplasia Cryptorchidism Neoplasm Proptosis Pancreatic cysts Short toe Talipes equinovarus Ventriculomegaly Dilatation Broad palm Hearing impairment Agenesis of corpus callosum Inguinal hernia Abnormality of the kidney Hydrocephalus Macrocephaly Abnormal heart morphology Patent ductus arteriosus Respiratory insufficiency Pulmonary hypoplasia Short neck Cleft palate Abnormal facial shape Ventricular septal defect Upslanted palpebral fissure Abnormality of cardiovascular system morphology Talipes Cleft lip Feeding difficulties Edema Micrognathia Respiratory distress Short foot Scoliosis Wide nasal bridge Low-set ears Severe global developmental delay Cleft upper lip Hypertension Cardiomyopathy Hernia Biparietal narrowing Microcephaly Wide mouth Large fontanelles Nephroblastoma Pachygyria Overgrowth Omphalocele Nevus Intellectual disability, severe High forehead Pancreatic dysplasia High, narrow palate Enlarged kidney Polycystic kidney dysplasia Anteverted nares Hepatic fibrosis Postaxial polydactyly Multicystic kidney dysplasia Stage 5 chronic kidney disease Renal dysplasia Blindness Short stature

Rare Symptoms - Less than 30% cases

Short finger Congenital hepatic fibrosis Toe syndactyly Narrow chest Thin vermilion border Postaxial foot polydactyly Neuronal loss in central nervous system Cystic renal dysplasia Hypoplastic scapulae Broad foot Protuberant abdomen Small nail Short thorax Anemia Short ribs Abnormality of digit Oral cleft Wide intermamillary distance Single transverse palmar crease Irritability Broad secondary alveolar ridge Low-set, posteriorly rotated ears Encephalocele Short palm Postaxial hand polydactyly Hepatosplenomegaly Ataxia Short nose Long face Cerebellar hypoplasia Failure to thrive Abnormality of the pancreas Severe failure to thrive Posterior helix pit Nephroblastomatosis Supernumerary nipple Hypoplasia of the brainstem Strabismus Hepatoblastoma High palate Heterotopia Hypoplasia of the corpus callosum Congenital diaphragmatic hernia Tapered finger Apnea Embryonal neoplasm Cataract Hypothyroidism Cardiomegaly Hypospadias Umbilical hernia Hypoglycemia Hydronephrosis Macroglossia Vesicoureteral reflux Abnormality of the skeletal system Diastasis recti Accelerated skeletal maturation Depressed nasal bridge Large for gestational age Neuroblastoma Prominent metopic ridge Foot polydactyly Nevus flammeus Coarse facial features Camptodactyly of finger Abnormality of the pinna Coloboma Hemihypertrophy Abnormality of finger Jaundice Vertebral segmentation defect Prominent occiput Abnormality of dental morphology Hemangioma Aplasia/Hypoplasia of the corpus callosum Hypopigmentation of the skin Iris coloboma Facial asymmetry Attention deficit hyperactivity disorder Oligohydramnios Flexion contracture Carcinoma Microphthalmia Frontal bossing Cholestasis Multiple glomerular cysts Potter facies Hepatic cysts Bile duct proliferation Biliary cirrhosis Aortic valve stenosis Posteriorly rotated ears Polysplenia Preauricular pit Renal insufficiency Situs inversus totalis Splenomegaly Epicanthus Multiple small medullary renal cysts Bilateral external ear deformity Abnormal parietal bone morphology Tapered toe Abnormal pelvis bone morphology Short proximal phalanx of hallux Absence seizures with eyelid myoclonia Shortening of all distal phalanges of the toes Aplasia of the 1st metacarpal Slender long bones with narrow diaphyses Aplasia/Hypoplasia of the hallux Hypertonia Absent sternal ossification Abnormality of the occipital bone Generalized hypotrichosis Abnormality of the scapula Gingival recession Aplasia/Hypoplasia of the clavicles Hypoplastic facial bones Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Renal artery stenosis Renovascular hypertension Hypoplasia of the frontal lobes Eyelid myoclonus Aplasia/Hypoplasia of the scapulae Abnormality of dental structure Clinodactyly of the 5th finger Poor head control Wide nose Short distal phalanx of finger Central hypotonia Pulmonic stenosis Congenital cataract Finger syndactyly Neurological speech impairment Megaloblastic anemia Mandibular prognathia Arrhythmia Portal hypertension Pectus excavatum Obesity Abnormality of the dentition Methylmalonic aciduria Downslanted palpebral fissures Aplasia of the distal phalanx of the hallux Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the proximal phalanx of the hallux Narrow nasal base Multiple skeletal anomalies Generalized neonatal hypotonia Aplasia/Hypoplasia of the middle phalanges of the hand Sparse eyebrow Meningoencephalocele Absent thumb Aplasia/Hypoplasia of the eyebrow Anonychia Flared metaphysis Metatarsus adductus Short middle phalanx of finger Rocker bottom foot Absent eyebrow Clitoral hypertrophy Choroid plexus cyst Severe hearing impairment Pyloric stenosis Abnormality of the urinary system Abnormality of pelvic girdle bone morphology Abnormal biliary tract morphology Tented upper lip vermilion Sparse eyelashes Short chin Sparse and thin eyebrow Short thumb Hydrops fetalis Tapetoretinal degeneration Right ventricular hypertrophy Retinal detachment Aplasia/Hypoplasia of the nipples Short upper lip Increased nuchal translucency Wide cranial sutures Arrhinencephaly Congenital microcephaly Aplastic clavicle Small earlobe Bilateral microphthalmos Premature loss of primary teeth Absent nipple Redundant neck skin Thin ribs Abnormality of the neck Decreased skull ossification Hypoplastic labia majora Sclerocornea Glossoptosis Inverted nipples Short clavicles Aplasia/Hypoplasia of the thumb Abnormality of blood and blood-forming tissues Occipital encephalocele Thick vermilion border Absence seizures Renal corticomedullary cysts Nystagmus Retinal dystrophy Prominent nasal bridge Abnormality of the liver Autistic behavior Acidosis Dyspnea Behavioral abnormality Visual impairment Cerebral atrophy Ptosis Cirrhosis Cerebellar atrophy Thrombocytopenia Two carpal ossification centers present at birth Pallor Cyst of the ductus choledochus Cleft lower lip Submucous cleft lip Delayed myelination Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Hepatic steatosis Renal sodium wasting Narrow sacroiliac notch Congenital blindness Aplasia/Hypoplasia of the cerebellar vermis Tubulointerstitial fibrosis Dilated fourth ventricle Occipital meningocele Agenesis of cerebellar vermis Abnormality of the hypothalamus-pituitary axis Undetectable electroretinogram Tubular atrophy Brainstem dysplasia Severe vision loss Nephronophthisis Nephropathy Molar tooth sign on MRI Abnormality of neuronal migration Polyuria Chorioretinal coloboma Polydipsia Hand polydactyly Tachypnea Intellectual disability, progressive Aganglionic megacolon Diabetes mellitus Highly arched eyebrow Birth length greater than 97th percentile 2-3 finger syndactyly Broad nasal tip Tall stature Abnormality of the voice Abnormality of the hand Relative macrocephaly Narrow palpebral fissure Hepatic failure Congenital hip dislocation Cardiac arrest Hoarse voice Short phalanx of finger Cerebral visual impairment Broad thumb Bilateral talipes equinovarus Abnormality of the genital system Clumsiness Abnormality of the ribs Hypoplasia of penis Polymicrogyria Nail dysplasia Webbed neck Dental malocclusion Bifid uvula Pancytopenia Postnatal microcephaly Cupped ear Hydroureter Short sacroiliac notch Generalized-onset seizure Short 2nd finger Penoscrotal hypospadias Broad toe Meckel diverticulum Cervical ribs Pancreatic islet-cell hyperplasia Aciduria Chordee Increased IgE level Ankyloglossia Ureteral duplication Bundle branch block Aplasia/Hypoplasia of the abdominal wall musculature Flared iliac wings Abnormality of the helix Furrowed tongue Renal neoplasm Duodenal atresia Low hanging columella Abnormal lung lobation Transposition of the great arteries Vertebral fusion Prolonged QT interval Preauricular skin tag Microtia Sparse scalp hair Joint hypermobility Abnormality of the outer ear Precocious puberty Nephrocalcinosis Nephrolithiasis Rickets Recurrent urinary tract infections Melanocytic nevus Aplasia/Hypoplasia of the cerebellum Abdominal distention Postural instability Intellectual disability, moderate Prominent supraorbital ridges Conductive hearing impairment Basal cell carcinoma Neurofibromas Osteomalacia Irregular hyperpigmentation Dilatation of the cerebral artery Respiratory failure Hyperactivity Myoclonus Genu recurvatum Midface retrusion Growth abnormality Hypercalciuria Intellectual disability, mild Nonimmune hydrops fetalis Coarctation of aorta Abdominal wall defect Teratoma Diaphragmatic eventration Unilateral cryptorchidism Rhabdomyosarcoma Abnormality of the tongue Visceromegaly Hypoplasia of the thymus Gonadoblastoma Exotropia Abnormality of vision Ketosis Neonatal hypoglycemia Horseshoe kidney Plagiocephaly Aniridia Reduced tendon reflexes Congenital hypothyroidism Hamartoma Tibial bowing Abnormality of the ear Large hands Gangrene Hyperphosphaturia Renal cortical cysts Bilateral single transverse palmar creases Milia Epidermal nevus Bowing of the legs Metaphyseal irregularity Anophthalmia Preaxial polydactyly Patent foramen ovale Short long bone Disproportionate short-limb short stature Holoprosencephaly Nevus sebaceous Cranial asymmetry Abnormality of toe Odontoma Renal hypoplasia Ambiguous genitalia Limb undergrowth Odontogenic neoplasm Ascites Linear nevus sebaceous Nevus sebaceus Flat face Brachydactyly Hemimegalencephaly Natal tooth Pain Median cleft lip and palate Hypophosphatemic rickets Porencephalic cyst Absent internal genitalia Intrahepatic bile duct cysts Bowing of the arm Fetal ascites Periportal fibrosis Hamartoma of tongue Lobulated tongue Accessory spleen Horizontal ribs Cavernous hemangioma Hypoplastic nipples Atelectasis Bifid tongue Preaxial foot polydactyly Thoracic dysplasia Asymmetric growth Single umbilical artery Microglossia Adenoma sebaceum Median cleft lip Abnormality of dental color Anencephaly Cerebral calcification Prune belly Spontaneous abortion Capillary hemangioma Ulnar deviation of the wrist Accessory oral frenulum Atrophy of the spinal cord Deep plantar creases Broad alveolar ridges Abnormal anterior chamber morphology Thick hair Deep palmar crease Pancreatic fibrosis Abnormality of the optic nerve Thoracolumbar scoliosis Mesomelic/rhizomelic limb shortening Glutaric acidemia Severe intrauterine growth retardation Underdeveloped supraorbital ridges Ulnar deviation of finger Dislocated radial head Overlapping toe Ureteral atresia Elbow dislocation Trigonocephaly CNS hypomyelination Sleep apnea Facial hemangioma Nevus flammeus of the forehead Joint dislocation Sparse hair Pulmonary arterial hypertension Tetralogy of Fallot Type I diabetes mellitus Premature birth Hypodontia Hypotrichosis Dolichocephaly Hip dislocation Short philtrum Abnormal cardiac septum morphology Protruding ear Facial capillary hemangioma Postnatal growth retardation Asplenia Hypertrophic cardiomyopathy Thin upper lip vermilion Macrotia Narrow mouth Micropenis Short sternum Portal fibrosis Delayed peripheral myelination Hyperechogenic pancreas Sacral dimple Narrow palate Flank pain Pancreatoblastoma Telecanthus Recurrent infections Long philtrum Abnormality of the eye Optic atrophy Myopia Corneal opacity Ophthalmoplegia Ichthyosis Congenital mesoblastic nephroma Fibrous hamartoma Abnormality of the nervous system Pancreatic hyperplasia Overgrowth of external genitalia Adrenocortical cytomegaly Vitreomacular adhesion Recurrent fractures Thymus hyperplasia Abdominal mass Opsoclonus Generalized muscle weakness Ganglioneuroma Adrenocortical carcinoma Prominent forehead Cerebral cortical atrophy Elbow flexion contracture Full cheeks Low anterior hairline Bradycardia Decreased body weight Hyperreflexia Hypertrichosis Interphalangeal joint contracture of finger Intellectual disability, profound High myopia Narrow forehead Convex nasal ridge Limitation of joint mobility Everted lower lip vermilion Gastroesophageal reflux Alopecia Hirsutism Kyphoscoliosis Synophrys Platyspondyly Osteopenia EEG abnormality Retinopathy Camptodactyly Muscular hypotonia of the trunk Retrognathia Abnormal liver parenchyma morphology


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