Hepatomegaly, and Intestinal malrotation

Diseases related with Hepatomegaly and Intestinal malrotation

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

Top matches:

Biliary atresia is a rare, progressive obliterative cholangiopathy of the extrahepatic bile ducts, occuring in the embryonic/ perinatal period, leading to severe and persistent jaundice and acholic stool with an unfavorable course in the absence of treatment.

ISOLATED BILIARY ATRESIA Is also known as isolated atresia of bile ducts|non-syndromic biliary atresia

Related symptoms:

  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED BILIARY ATRESIA

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

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:

Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with congenital hepatic fibrosis (CHF).

JOUBERT SYNDROME WITH HEPATIC DEFECT Is also known as coach syndrome|cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis|cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, ocular coloboma, and hepatic fibrosis|js-h|joubert syndrome with congenital hepatic fibro

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JOUBERT SYNDROME WITH HEPATIC DEFECT

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

Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

High match ACROOSTEOLYSIS

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

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

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 Intestinal malrotation

Symptoms // Phenotype % cases
Hypertelorism Common - Between 50% and 80% cases
Ventricular septal defect Common - Between 50% and 80% cases
Patent ductus arteriosus Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Splenomegaly

Uncommon Symptoms - Between 30% and 50% cases

Inguinal hernia

Common Symptoms - More than 50% cases

Short neck

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Wide nasal bridge Short toe Polydactyly Hearing impairment Hypertension Cleft palate Micrognathia Hydrocephalus Scoliosis Hernia Dandy-Walker malformation Muscular hypotonia Abnormality of the kidney Abnormality of the dentition Long philtrum Renal cyst Abnormality of cardiovascular system morphology Atrial septal defect Hypospadias Polyhydramnios Intellectual disability Generalized hypotonia Brachydactyly Global developmental delay Downslanted palpebral fissures Broad palm Anteverted nares Cleft lip Intrauterine growth retardation Short stature Growth delay Cholestasis Intellectual disability, severe Oral cleft Iris coloboma Abnormal facial shape Edema Dilatation Talipes equinovarus Skeletal dysplasia Syndactyly Short foot Narrow chest Cleft upper lip Abnormality of the fingernails Decreased skull ossification Postaxial hand polydactyly Omphalocele Abnormality of the voice Bowing of the long bones Strabismus Agenesis of corpus callosum Cryptorchidism Upslanted palpebral fissure Seizures Synophrys Coarse facial features Postaxial polydactyly Full cheeks Polysplenia Umbilical hernia Aortic valve stenosis Thin vermilion border Wide nose Short distal phalanx of finger Portal hypertension Pulmonary hypoplasia Situs inversus totalis Low anterior hairline Hepatic failure Cirrhosis Abnormal heart morphology Downturned corners of mouth Myopia Elevated hepatic transaminase Cataract

Rare Symptoms - Less than 30% cases

Osteopenia Arthralgia Narrow mouth Epicanthus Posteriorly rotated ears Camptodactyly of finger Telecanthus Talipes Pectus carinatum Short palm Hydroureter Single transverse palmar crease High, narrow palate Osteoporosis Congenital diaphragmatic hernia Biparietal narrowing Multicystic kidney dysplasia Cerebellar vermis hypoplasia Nephroblastoma Long face Supernumerary nipple Abnormality of the liver Wide mouth Apnea Recurrent respiratory infections Headache Kyphosis Abnormality of the pancreas Peripheral neuropathy Dolichocephaly Coarse hair Wide intermamillary distance Hypothyroidism Thickened skin Hypoplasia of penis Clinodactyly of the 5th finger Patellar dislocation Bone pain Convex nasal ridge Multiple renal cysts Skin ulcer Recurrent fractures Generalized hirsutism Wormian bones Hydronephrosis Osteolysis Joint laxity Syringomyelia Prominent occiput Open bite Short nose Cardiomyopathy Proptosis Hypoplastic 5th lumbar vertebrae Short thorax Neoplasm Hypoplastic nipples Arnold-Chiari malformation Dental malocclusion Delayed puberty Recurrent infections Partial absence of toe Absent frontal sinuses Periodontitis Rough bone trabeculation Platybasia Biconcave vertebral bodies Joint hyperflexibility Dry skin Microcephaly Mitral stenosis Thick eyebrow Broad foot Frontal bossing Hypoplasia of the maxilla Diabetes mellitus Short ribs Intrahepatic biliary atresia Pancreatic islet-cell hyperplasia Flexion contracture Respiratory insufficiency Renal insufficiency Limb undergrowth Depressed nasal bridge Stage 5 chronic kidney disease Pancreatic cysts Renal dysplasia Hepatic fibrosis Disproportionate short-limb short stature Polycystic kidney dysplasia Enlarged kidney Pancreatic dysplasia Portal fibrosis Severe short stature Abnormal lung lobation Platyspondyly Jaundice Irritability High forehead Bile duct proliferation Abnormal cardiac septum morphology Hyperbilirubinemia Calvarial skull defect Asplenia Malar flattening Preauricular pit Low hanging columella Abnormality of digit Transposition of the great arteries Vertebral fusion Diastasis recti Hypoplasia of the zygomatic bone Neuroblastoma Duodenal atresia Vertebral segmentation defect Deep plantar creases Abnormality of the mandible Glomerulonephritis Premature loss of permanent teeth Basilar impression Flank pain Relative macrocephaly Respiratory arrest Osteolytic defects of the phalanges of the hand Delayed cranial suture closure Abnormality of the hand Prolonged QT interval Hematuria Joint hypermobility Paresthesia Respiratory tract infection Cupped ear Pain Bilateral talipes equinovarus Bundle branch block Large for gestational age Ureteral duplication Renal neoplasm Submucous cleft lip Broad secondary alveolar ridge Nephroblastomatosis Birth length greater than 97th percentile Penoscrotal transposition Duplication of renal pelvis Six lumbar vertebrae Cleft lower lip 2-3 finger syndactyly Cyst of the ductus choledochus Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Narrow sacroiliac notch Posterior helix pit Furrowed tongue Increased IgE level Abnormality of the skull Abnormality of the helix Flared iliac wings Aplasia/Hypoplasia of the abdominal wall musculature Osteolytic defects of the phalanges of the toes Ankyloglossia Chordee Short sacroiliac notch Cervical ribs Meckel diverticulum Hepatoblastoma Embryonal neoplasm Broad toe Penoscrotal hypospadias Short 2nd finger Basilar invagination Narrow palpebral fissure Accelerated skeletal maturation Finger syndactyly Prominent metopic ridge Mandibular prognathia Ulnar deviation of finger Dislocated radial head Hypoglycemia Low-set, posteriorly rotated ears Neurological speech impairment Overlapping toe Hypoplasia of the brainstem Congenital cataract Arrhythmia Toe syndactyly Pulmonic stenosis Elbow dislocation Trigonocephaly CNS hypomyelination Sleep apnea Hemangioma Facial asymmetry Sacral dimple Underdeveloped supraorbital ridges Nevus flammeus Joint dislocation Deep palmar crease Atrophy of the spinal cord Accessory oral frenulum Ulnar deviation of the wrist Facial hemangioma Mesomelic/rhizomelic limb shortening Abnormal anterior chamber morphology Thick hair Nevus flammeus of the forehead Facial capillary hemangioma Abnormality of the optic nerve Pectus excavatum Capillary hemangioma Thoracolumbar scoliosis Hyperechogenic pancreas Severe failure to thrive Severe intrauterine growth retardation Septate vagina Delayed peripheral myelination Abnormality of the skeletal system Blindness Obesity Thick vermilion border Narrow palate Broad alveolar ridges Cardiac arrest Abnormality of the genital system Retinopathy Broad thumb Tall stature Camptodactyly Cerebral visual impairment Preauricular skin tag Hoarse voice Muscular hypotonia of the trunk Retrognathia Small nail Gastroesophageal reflux Congenital hip dislocation Cerebral cortical atrophy Prominent forehead Hypoplasia of the corpus callosum Ventriculomegaly Optic atrophy Feeding difficulties High palate Clumsiness Abnormality of the ribs Elbow flexion contracture Narrow forehead Bradycardia Decreased body weight Heterotopia Hypertrichosis Interphalangeal joint contracture of finger Intellectual disability, profound Retinal detachment High myopia Macroglossia Limitation of joint mobility Overgrowth Vesicoureteral reflux Nevus Tapered finger Everted lower lip vermilion Broad nasal tip Hirsutism Severe global developmental delay Bifid uvula Webbed neck Nail dysplasia Anasarca Cognitive impairment Absent lacrimal punctum Abnormal leukocyte morphology 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 cholesterol metabolism Abnormality of the orbital region Ectopic ossification Aplasia/hypoplasia of the extremities Severe hydrops fetalis Abnormality of the calcaneus Severe short-limb dwarfism Abnormally ossified vertebrae Multiple prenatal fractures Abnormal bone ossification Absent toenail Vertebral hypoplasia Sclerosis of skull base Hypoplastic vertebral bodies Long clavicles Ectopic calcification Diaphyseal thickening Punctate vertebral calcifications Tracheal calcification Extramedullary hematopoiesis Tremor Nephropathy Retinal dystrophy Abnormality of eye movement Prominent nasal bridge Coloboma Feeding difficulties in infancy Abnormality of the eye Intellectual disability, moderate Abnormality of the nervous system Cerebellar hypoplasia Gait disturbance Hyperreflexia Laryngeal calcification Visual impairment Ptosis Spasticity Nystagmus Ataxia Patchy variation in bone mineral density Sternal punctate calcifications Anterior rib punctate calcifications Abnormal ossification involving the femoral head and neck Supernumerary vertebral ossification centers Abnormality of the vertebral spinous processes Metaphyseal cupping Ulnar deviation of the hand Round face Acidosis Multiple glomerular cysts Glutaric acidemia Pancreatic fibrosis Potter facies Hepatic cysts Short sternum Biliary cirrhosis Type I diabetes mellitus Spontaneous abortion Oligohydramnios Polymicrogyria Atretic gallbladder Midface retrusion Extrahepatic biliary duct atresia Acholic stools Unconjugated hyperbilirubinemia Increased total bilirubin Dark urine Biliary atresia Conjugated hyperbilirubinemia Right ventricular hypertrophy Increased body weight Ventricular hypertrophy Scarring Ureteral atresia Hepatosplenomegaly Lethal skeletal dysplasia Narrow nasal bridge 11 pairs of ribs Large forehead Hypoplastic fingernail Nonimmune hydrops fetalis Misalignment of teeth Preeclampsia Barrel-shaped chest Postaxial foot polydactyly Epiphyseal stippling Abnormal joint morphology Cystic hygroma Mesomelia Micromelia Thoracic hypoplasia Flared metaphysis Pleural effusion Sandal gap Bone marrow hypocellularity Lymphedema Hydrops fetalis Rhizomelia Short phalanx of finger Abnormal form of the vertebral bodies Cardiomegaly Highly arched eyebrow Gastrointestinal hemorrhage Increased VLDL cholesterol concentration Malabsorption Hypocalcemia Abnormality of the nail Cafe-au-lait spot Sparse scalp hair Microdontia Growth hormone deficiency Underdeveloped nasal alae Generalized muscle weakness Abdominal distention Delayed eruption of teeth Anal atresia Hypotrichosis Severe muscular hypotonia Dilated cardiomyopathy Small for gestational age Postnatal growth retardation Micropenis Alopecia Delayed skeletal maturation Fatigue Anemia Sensorineural hearing impairment Absent internal genitalia Intrahepatic bile duct cysts Pointed chin Widely spaced teeth Fetal ascites Fair hair Colonic diverticula Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Rectovaginal fistula Hypoproteinemia Abnormal hair pattern Exocrine pancreatic insufficiency Oligodontia Anal stenosis Facial cleft Hypopituitarism Anteriorly placed anus Glycosuria Agenesis of permanent teeth Steatorrhea Dextrocardia Congenital sensorineural hearing impairment Clitoral hypertrophy Abnormality of the genitourinary system Bowing of the arm Periportal fibrosis Apraxia Neoplasm of the liver Flat face Abnormality of the pinna Respiratory distress Chronic hepatic failure Multiple small medullary renal cysts Aplasia/Hypoplasia of the cerebellar vermis Abnormal pattern of respiration Congenital hepatic fibrosis Abnormality of the hypothalamus-pituitary axis Cholestatic liver disease Esophageal varix Optic nerve coloboma Ambiguous genitalia Abnormality of abdomen morphology Occipital encephalocele Nephronophthisis Molar tooth sign on MRI Abnormality of neuronal migration Aplasia/Hypoplasia of the cerebellum Chorioretinal coloboma Chronic kidney disease Aplasia/Hypoplasia of the corpus callosum Oculomotor apraxia Encephalocele Ascites Renal hypoplasia Hamartoma of tongue Microglossia Lobulated tongue Accessory spleen Horizontal ribs Median cleft lip and palate Cystic renal dysplasia Atelectasis Bifid tongue Preaxial foot polydactyly Thoracic dysplasia Hypoplastic scapulae Single umbilical artery Median cleft lip Bilateral single transverse palmar creases Protuberant abdomen Anencephaly Natal tooth Short finger Milia Bowing of the legs Metaphyseal irregularity Anophthalmia Preaxial polydactyly Patent foramen ovale Short long bone Holoprosencephaly Two carpal ossification centers present at birth


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Diabetes mellitus, related diseases and genetic alterations Intellectual disability, severe and Brachycephaly, related diseases and genetic alterations