Hepatomegaly, and Facial asymmetry

Diseases related with Hepatomegaly and Facial asymmetry

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

Top matches:

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO 11P15 MICRODELETION

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

Other less relevant matches:

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

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

Medium match CLOVES SYNDROME

CLOVE syndrome is characterized by Congenital Lipomatous Overgrowth, progressive, complex and mixed truncal Vascular malformations, and Epidermal nevi.

CLOVES SYNDROME Is also known as cloves syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome|congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome|clove syndrome|congenital lipomatous overgrowth,

Related symptoms:

  • Seizures
  • Scoliosis
  • Nystagmus
  • Cataract
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CLOVES SYNDROME

The combination of a propensity for venous thrombosis and seizures has been reported in two unrelated kindreds. Transmission is autosomal recessive. It results from a point mutation of PIGM, which reduces transcription of PIGM and blocks mannosylation of glycosylphosphatidylinositol (GPI), leading to partial but severe deficiency of GPI.

HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY Is also known as pigm-cdg|congenital disorder of glycosylation due to pigm deficiency|glycosylphosphatidylinositol biosynthesis defect 1|gpibd1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Abnormal facial shape
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about HYPERCOAGULABILITY SYNDROME DUE TO GLYCOSYLPHOSPHATIDYLINOSITOL DEFICIENCY

Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Anemia


SOURCES: OMIM MENDELIAN

More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Facial asymmetry

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Overgrowth Umbilical hernia Scoliosis Neoplasm Growth delay Global developmental delay Epicanthus Hemihypertrophy Macroglossia Abnormality of the skeletal system Cryptorchidism Polyhydramnios Cleft palate Cataract Proptosis Intrauterine growth retardation Patent ductus arteriosus Talipes equinovarus Ventriculomegaly Abnormal heart morphology Inguinal hernia Syndactyly Finger syndactyly Ptosis Micrognathia Agenesis of corpus callosum Hydrocephalus Diastasis recti Short stature Abnormality of the kidney Enlarged kidney Ventricular septal defect Large for gestational age Nephroblastoma Hearing impairment Hypoglycemia Mandibular prognathia

Rare Symptoms - Less than 30% cases

Coarse facial features Anemia Hypertrophic cardiomyopathy Abnormality of vision Congenital cataract Blindness Horseshoe kidney Severe short stature Abnormality of the genital system Dandy-Walker malformation Nevus Postnatal growth retardation Failure to thrive Hypopigmentation of the skin Nystagmus Renal agenesis Wide nasal bridge Arrhythmia Cranial asymmetry Short neck Abnormality of cardiovascular system morphology Generalized hypotonia Thrombocytopenia Hypospadias Clinodactyly of the 5th finger Upslanted palpebral fissure Cardiomyopathy Epidermal nevus Hemimegalencephaly Atrial septal defect Hernia Hypothyroidism Irritability Abnormality of the liver Small for gestational age Corneal opacity Irregular hyperpigmentation Toe syndactyly Hypertension Depressed nasal bridge Short nose Vertebral segmentation defect Insulin resistance Carcinoma Clinodactyly Abnormality of the face Embryonal neoplasm Anterior creases of earlobe Abdominal wall defect Hydroureter Visceromegaly Cardiac arrest Webbed neck Nevus flammeus Neonatal hypoglycemia Abnormality of the ureter Abnormality of the outer ear Posterior helix pit Renal hypoplasia/aplasia Abnormality of the dentition Muscular hypotonia Microcephaly Omphalocele Premature birth Bone marrow hypocellularity Abnormality of the eye Vertigo Abnormality of the nervous system Meckel diverticulum Kyphoscoliosis Hyperreflexia Wide nose Respiratory distress Dilatation Microphthalmia Macrocephaly Frontal bossing Auricular pit Short palm Hypoplasia of penis Abnormality of the ribs Cerebellar vermis hypoplasia Wide mouth Renal cyst Postaxial hand polydactyly Neurological speech impairment Cleft upper lip Short distal phalanx of finger Pulmonic stenosis Small nail Postaxial polydactyly Thick vermilion border High, narrow palate Retinal detachment Nail dysplasia Short foot Thin vermilion border Broad nasal tip Bifid uvula Intestinal malrotation Camptodactyly of finger Dental malocclusion Congenital diaphragmatic hernia Absent testis Low-set, posteriorly rotated ears Abnormal aortic valve morphology Low-grade fever Duplicated collecting system Duodenal stenosis Primary hypothyroidism Abnormality of nervous system morphology Abnormal aortic morphology Reticulocytopenia Abnormality of chromosome stability Abnormal localization of kidney Abnormal renal morphology Abnormality of the hypothalamus-pituitary axis Complete duplication of thumb phalanx Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Aplasia/Hypoplasia of the iris Partial duplication of thumb phalanx Cleft lip Aplasia/Hypoplasia of the uvula Hydronephrosis Polydactyly Pectus excavatum Obesity Intellectual disability, severe Anteverted nares Downslanted palpebral fissures Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Neoplasm of head and neck Clubbing of toes Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Almond-shaped palpebral fissure Compensated hypothyroidism Broad thumb Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clumsiness Ankyloglossia Renal dysplasia Macrodactyly Portal vein thrombosis Hemoglobinuria Atonic seizures Portal hypertension Venous thrombosis Absence seizures Pelvic mass Enlarged peripheral nerve Splayed toes Epididymal cyst Encephalomalacia Capillary malformation Diarrhea Venous malformation Cranial hyperostosis Spinal dysraphism Tethered cord Lower limb asymmetry Lipoma Lipoatrophy Partial agenesis of the corpus callosum Sandal gap Horizontal nystagmus Generalized-onset seizure Paroxysmal nocturnal hemoglobinuria Immunodeficiency Two carpal ossification centers present at birth Chronic hepatitis Prolonged bleeding time Radial deviation of finger Trigonocephaly Pyloric stenosis Abnormality of the cardiovascular system Long philtrum Low-set ears Decreased serum iron Uncombable hair Pili canaliculi Intractable diarrhea Bloody diarrhea Prominent forehead Hypochromic microcytic anemia Trichorrhexis nodosa Villous atrophy Woolly hair Microcytic anemia Colitis Brittle hair Chronic diarrhea Hepatitis Cirrhosis Sparse hair Constipation Cyst of the ductus choledochus Tall stature Preauricular pit Broad foot Abnormal lung lobation Neuroblastoma Transposition of the great arteries Broad palm Abnormality of digit Vertebral fusion Prolonged QT interval Supernumerary nipple Bundle branch block Bilateral talipes equinovarus Cupped ear Polysplenia Abnormality of the voice Abnormality of the hand Relative macrocephaly Accelerated skeletal maturation Narrow palpebral fissure Multicystic kidney dysplasia Congenital hip dislocation Hoarse voice Short toe Preauricular skin tag Cerebral visual impairment Low hanging columella Duodenal atresia Cleft lower lip Penoscrotal hypospadias Submucous cleft lip Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Nephroblastomatosis Broad secondary alveolar ridge Narrow sacroiliac notch 2-3 finger syndactyly Short sacroiliac notch Short 2nd finger Broad toe Renal neoplasm Hepatoblastoma Cervical ribs Pancreatic islet-cell hyperplasia Chordee Increased IgE level Abnormal eyelid morphology Ureteral duplication Aplasia/Hypoplasia of the abdominal wall musculature Flared iliac wings Abnormality of the helix Furrowed tongue Abnormality of the ulna Leukemia Chromosome breakage Asymmetric growth Spasticity Nevus sebaceus Linear nevus sebaceous Odontogenic neoplasm Odontoma Abnormality of toe Nevus sebaceous Abnormality of dental color Adenoma sebaceum Cavernous hemangioma Flexion contracture Porencephalic cyst Hypophosphatemic rickets Hyperphosphaturia Abnormality of finger Gangrene Genu recurvatum Dilatation of the cerebral artery Osteomalacia Biparietal narrowing Cognitive impairment Motor delay Basal cell carcinoma Pectus carinatum Hip dysplasia Tetraplegia Ascites Neurodegeneration Hirsutism Thick eyebrow Genu valgum Poor speech Platyspondyly Respiratory tract infection Edema Hyperlordosis Intellectual disability, moderate Muscular hypotonia of the trunk Hepatosplenomegaly Skeletal dysplasia Dyspnea Recurrent infections Kyphosis Intellectual disability, mild Hypertonia Neurofibromas Prominent occiput Lumbar hyperlordosis Hematuria Hemifacial hypertrophy Asymmetry of the thorax Mild global developmental delay Abnormal eyebrow morphology Capillary hemangioma Cardiomegaly Prominent nose Full cheeks Abdominal distention Synophrys Alopecia Deeply set eye Jaundice Brachycephaly Malar flattening Rhabdomyosarcoma Autistic behavior Micropenis Delayed speech and language development Muscle weakness Congenital megaureter Osteopenia Abnormality of dental morphology Pachygyria Aplasia/Hypoplasia of the cerebellum Melanocytic nevus Rickets Precocious puberty Hemangioma Aplasia/Hypoplasia of the corpus callosum Reduced tendon reflexes Plagiocephaly Exotropia Coarctation of aorta EEG abnormality Cerebral calcification Generalized muscle weakness Recurrent fractures Iris coloboma Ichthyosis Talipes Ophthalmoplegia Attention deficit hyperactivity disorder Coloboma Telecanthus Spastic tetraplegia Hypertrichosis Hearing abnormality Oligohydramnios Abnormal vertebral morphology Short thumb Cafe-au-lait spot Telangiectasia Recurrent urinary tract infections Aganglionic megacolon Choanal atresia Short palpebral fissure Pancytopenia Sloping forehead Hypergonadotropic hypogonadism Tetralogy of Fallot Lymphoma Neutropenia Bruising susceptibility Abnormality of skin pigmentation Astigmatism Anal atresia Abnormality of the foot Dolichocephaly Spina bifida Type I diabetes mellitus Abnormal cardiac septum morphology Squamous cell carcinoma External ear malformation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Acute myeloid leukemia Multiple cafe-au-lait spots Myeloid leukemia Absent thumb Ectopic kidney Hypoplasia of the ulna Leukopenia Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Myelodysplasia Hyperinsulinemia Abnormality of the urinary system Reduced bone mineral density Hypopigmented skin patches Cranial nerve paralysis Azoospermia Hip dislocation Pes planus Broad-based gait Hyperactive deep tendon reflexes Pulmonary insufficiency Recurrent ear infections Broad ribs Nonimmune hydrops fetalis Dysostosis multiplex Thoracolumbar scoliosis Spinal cord compression Thoracic kyphosis Hypoplasia of the odontoid process Abnormal heart valve morphology Acetabular dysplasia Mild short stature Metatarsus adductus Spondyloepiphyseal dysplasia Pleural effusion Pterygium Recurrent upper respiratory tract infections Widely spaced teeth Opacification of the corneal stroma Hydrops fetalis Gingival overgrowth Thoracolumbar kyphosis Prominent sternum Weight loss Strabismus Diabetes mellitus Hypogonadism Headache Renal insufficiency Congestive heart failure Fatigue Fever Visual impairment High palate Ataxia Thoracic kyphoscoliosis Anterior beaking of lower thoracic vertebrae Proximal tapering of metacarpals Decreased pulmonary function Anterior beaking of lumbar vertebrae Dermatan sulfate excretion in urine Pseudoarthrosis Snoring Heparan sulfate excretion in urine Narrow greater sacrosciatic notches J-shaped sella turcica Megakaryocyte dysplasia


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