Hepatomegaly, and Frontal bossing

Diseases related with Hepatomegaly and Frontal bossing

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

Top matches:

Acute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME

BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4 Is also known as cholestasis, intrahepatic, with defective conversion of trihydroxycoprostanic acid to cholic acid|trihydroxycoprostanic acid in bile

Related symptoms:

  • Failure to thrive
  • Epicanthus
  • Hepatomegaly
  • Frontal bossing
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

More info about BILE ACID SYNTHESIS DEFECT, CONGENITAL, 4; CBAS4

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Other less relevant matches:

Related symptoms:

  • Failure to thrive
  • Strabismus
  • Anemia
  • Feeding difficulties
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about OSTEOPETROSIS, AUTOSOMAL RECESSIVE 8; OPTB8

Congenital bile acid synthesis defect type 4 (BAS defect type 4) is an anomaly of bile acid synthesis (see this term) characterized by mild cholestatic liver disease, fat malabsorption and/or neurological disease.

CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4 Is also known as 2-methylacyl-coa racemase deficiency|amacr deficiency|basd4|alpha-methyl-acyl-coa racemase deficiency|liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Cataract
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL BILE ACID SYNTHESIS DEFECT TYPE 4

High match CINCA SYNDROME

Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

High match SIALURIA

Sialuria is an extremely rare metabolic disorder described in fewer than 10 patients to date and characterized by variable signs and symptoms, mostly in infancy, including transient failure to thrive, slightly prolonged neonatal jaundice, equivocal or mild hepatomegaly, microcytic anemia, frequent upper respiratory infections, gastroenteritis, dehydration and flat and coarse facies. Learning difficulties and seizures may occur in childhood.

SIALURIA Is also known as sialuria, french type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIALURIA

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

Peroxisomal acyl-CoA oxidase deficiency is a rare neurodegenerative disorder that belongs to the group of inherited peroxisomal disorders and is characterized by hypotonia and seizures in the neonatal period and neurological regression in early infancy.

PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY Is also known as pseudoneonatal adrenoleukodystrophy|pseudo-neonatal adrenoleukodystrophy|pseudo-nald|pseudoadrenoleukodystrophy|straight-chain acyl-coa oxidase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PEROXISOMAL ACYL-COA OXIDASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Frontal bossing

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
Low-set ears Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Splenomegaly Macrocephaly Epicanthus Elevated hepatic transaminase Abnormality of the liver Optic atrophy Abnormal facial shape Hearing impairment Anemia Prominent forehead Hepatosplenomegaly Sensorineural hearing impairment Irritability

Rare Symptoms - Less than 30% cases

Brain atrophy Spasticity Ataxia Vomiting Dysarthria Hypoplasia of the corpus callosum Gait disturbance Feeding difficulties Strabismus Visual impairment Intellectual disability Developmental regression Depressed nasal bridge Coarse facial features Hyperactivity Abnormality of metabolism/homeostasis Wide nasal bridge Hypertelorism Dysostosis multiplex Flexion contracture Dysphagia Retinopathy Wide mouth EEG abnormality Blindness Chronic diarrhea Muscular hypotonia Respiratory insufficiency Pigmentary retinopathy Migraine Short chin Synophrys Malabsorption Proptosis Cirrhosis Depressivity Hepatitis Cholestasis Hypergonadotropic hypogonadism Fat malabsorption Diarrhea Respiratory failure Abnormality of the coagulation cascade Hepatic failure Microcephaly Lactic acidosis Camptodactyly Memory impairment Thick eyebrow Anteverted nares Short neck Behavioral abnormality Absent speech Difficulty walking Aggressive behavior Joint stiffness Inverted nipples Joint hypermobility Hirsutism Hand polydactyly Smooth philtrum Sleep disturbance Thick lower lip vermilion Hypertrichosis Progressive hearing impairment Drooling Recurrent upper respiratory tract infections Coarse hair Abnormal electroretinogram Abnormality of visual evoked potentials CNS demyelination Decreased light- and dark-adapted electroretinogram amplitude Hypoplastic nipples No social interaction Low posterior hairline Hoarse voice Abnormality of nervous system morphology Generalized hirsutism Sleep apnea Hyperkinesis Macroglossia Cholelithiasis 2-3 toe syndactyly Thoracic hypoplasia Protuberant abdomen Expressive language delay Episodic abdominal pain Tapetoretinal degeneration Upper airway obstruction High, narrow palate Prolonged partial thromboplastin time Periorbital fullness Abnormality of the mitochondrion Growth abnormality Prolonged prothrombin time Long hallux Spinal deformities Osteopenia Cellular metachromasia Asymmetric septal hypertrophy Tetraplegia Generalized-onset seizure Spontaneous abortion Severe muscular hypotonia Hyperammonemia Rocker bottom foot Severe failure to thrive Severe lactic acidosis 3-Methylglutaconic aciduria Peripheral demyelination Nystagmus Hyperreflexia Hypodontia Cardiac arrest Myopia Retinal degeneration Intellectual disability, severe Abnormality of the cerebral white matter Severe global developmental delay Hypertonia Dystonia Babinski sign Myoclonus Brachycephaly Neurological speech impairment Polydactyly Bilateral sensorineural hearing impairment Spastic tetraplegia Heparan sulfate excretion in urine Hypospadias Thickened ribs Ovoid thoracolumbar vertebrae Neonatal hypotonia Short stature Micrognathia Cryptorchidism Hypertension Intellectual disability, progressive Cardiomyopathy Congestive heart failure Abnormality of cardiovascular system morphology Abnormal heart morphology Aortic valve stenosis Acidosis Retrognathia Hypertrophic cardiomyopathy Short philtrum Prominent nasal bridge Pulmonic stenosis Metabolic acidosis Increased serum lactate Aciduria Oligohydramnios Cardiomegaly Leukodystrophy Renal hypoplasia Progressive sensorineural hearing impairment Attention deficit hyperactivity disorder Headache Thrombocytopenia Facial palsy Triangular face Leukopenia Short femoral neck Osteopetrosis Increased head circumference Uncontrolled eye movements Increased density of long bones Cataract Peripheral neuropathy Tremor Encephalopathy Interstitial pneumonitis Rod-cone dystrophy Hypogonadism Gait ataxia Photophobia Mental deterioration Confusion Unsteady gait Peripheral axonal neuropathy Nausea Distal sensory impairment Sensory neuropathy Polyneuropathy Hydrocephalus Chronic lung disease Sensory impairment Prolonged neonatal jaundice Hepatic steatosis Full cheeks Delayed gross motor development Long fingers Microcytic anemia Macrocytic anemia Acute hepatic failure Long toe Jaundice Single transverse palmar crease Hyperbilirubinemia Steatorrhea Intrahepatic cholestasis Prominent occiput Giant cell hepatitis Clinodactyly Posteriorly rotated ears Diabetes mellitus Hypothyroidism Autoimmunity Dolichocephaly Asthma Abnormal lung morphology Type I diabetes mellitus Abnormal intestine morphology Relative macrocephaly Coma Type II diabetes mellitus Thin upper lip vermilion Elevated C-reactive protein level Increased intracranial pressure Reduced bone mineral density Urticaria Leukocytosis Elevated erythrocyte sedimentation rate Abnormal joint morphology Arthropathy Amyloidosis Uveitis Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Inflammatory abnormality of the eye Joint dislocation Abnormality of neutrophils Pseudopapilledema Retrobulbar optic neuritis Abnormal granulocyte morphology Scoliosis Pain Cognitive impairment High palate Intellectual disability, mild Long philtrum Inguinal hernia Abdominal pain Purpura Vasculitis Status epilepticus Brachydactyly Intention tremor Hemiparesis Sensorimotor neuropathy Bilateral single transverse palmar creases Paraparesis Spastic paraparesis Apathy Agitation Atrophy/Degeneration affecting the brainstem Iris hypopigmentation Biliary tract abnormality Growth delay Fever Meningitis Fatigue Edema Skeletal dysplasia Arthralgia Myalgia Arthritis Skin rash Papule Nausea and vomiting Lymphadenopathy Premature birth Overgrowth Diffuse hepatic steatosis


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