Hepatomegaly, and Macroglossia

Diseases related with Hepatomegaly and Macroglossia

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

Top matches:

Glycogen storage disease due to acid maltase deficiency, infantile onset is the most severe form of glycogen storage disease due to acid maltase deficiency, characterized by cardiomegaly with respiratory distress, muscle weakness and feeding difficulties. It is often fatal.

GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET Is also known as glycogenosis due to acid maltase deficiency, infantile onset|glycogen storage disease type ii, infantile onset|gsd type 2, infantile onset|alpha-1,4-glucosidase acid deficiency, infantile onset|gsd type ii, infantile onset|glycogenosis type ii, infantile

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Muscular hypotonia
  • Cognitive impairment
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO ACID MALTASE DEFICIENCY, INFANTILE ONSET

FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE Is also known as fatal congenital hypertrophic cardiomyopathy due to glycogenosis|fatal congenital hypertrophic cardiomyopathy due to gsd|phosphorylase kinase deficiency of heart|glycogen storage disease of heart

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FATAL CONGENITAL HYPERTROPHIC CARDIOMYOPATHY DUE TO GLYCOGEN STORAGE DISEASE

Other less relevant matches:

Infantile mitochondrial myopathy due to reversible COX deficiency is a rare mitochondrial disorder characterized by onset in infancy of severe hypotonia and generalized muscle weakness associated with lactic acidosis, but is distinguished from other mitochondrial disorders in that affected individuals recover spontaneously after 1 year of age (summary by Mimaki et al., 2010).See also transient infantile liver failure (LFIT ), which is a similar disorder.

MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY Is also known as mitochondrial myopathy with reversible complex iv deficiency|mitochondrial myopathy with reversible cox deficiency|cox deficiency myopathy, infantile, transient|benign cox deficiency|mitochondrial myopathy, infantile, transient, due to respiratory chain d

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • High palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY

Nakajo-Nishimura syndrome (NNS) is a rare autoinflammatory disorder belonging to the proteasome disability syndrome (see this term) group, and characterized by pernio-like lesions appearing in infancy followed by recurrent fever, nodular skin eruption, partial lipodystrophy (mainly in upper extremities and face) and joint contractures.

NAKAJO-NISHIMURA SYNDROME Is also known as nns|secondary hypertrophic osteoperiostosis with pernio|amyotrophy-fat tissue anomaly syndrome

Related symptoms:

  • Muscle weakness
  • Hepatomegaly
  • Fever
  • Skeletal muscle atrophy
  • Respiratory insufficiency


SOURCES: ORPHANET MENDELIAN

More info about NAKAJO-NISHIMURA SYNDROME

Paternal uniparental disomy of chromosome 6 is an uniparental disomy of paternal origin characterized by intrauterine growth retardation, transient neonatal diabetes mellitus, and macroglossia.

PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6 Is also known as upd(6)pat

Related symptoms:

  • Micrognathia
  • Cryptorchidism
  • High palate
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: ORPHANET MENDELIAN

More info about PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 6

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Salt and pepper developmental regression syndrome, also known as Amish infantile epilepsy syndrome, is an autosomal recessive neurocutaneous disorder characterized by infantile onset of refractory and recurrent seizures associated with profoundly delayed psychomotor development and/or developmental regression as well as abnormal movements and visual loss (summary by Fragaki et al., 2013). Affected individuals develop hypo- or hyperpigmented skin macules on the trunk, face, and extremities in early childhood (summary by Boccuto et al., 2014). Not all patients have overt seizures (Lee et al., 2016).

AMISH INFANTILE EPILEPSY SYNDROME Is also known as epilepsy syndrome, infantile-onset symptomatic|infantile-onset symptomatic epilepsy syndrome-developmental stagnation-blindness syndrome|gm3 synthase deficiency|salt and pepper mental retardation syndrome|amish infantile epilepsy syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMISH INFANTILE EPILEPSY 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

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Macroglossia

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Coarse facial features Uncommon - Between 30% and 50% cases
Cardiomegaly Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Inguinal hernia Umbilical hernia Abnormal facial shape Abnormality of the face Failure to thrive Abdominal wall defect Neonatal hypoglycemia Hypoglycemia High palate Enlarged kidney Ventricular septal defect Muscle weakness Cryptorchidism Global developmental delay Scoliosis Feeding difficulties Respiratory insufficiency Gingival overgrowth

Rare Symptoms - Less than 30% cases

Increased serum lactate Abnormality of the outer ear Abnormality of earlobe Mandibular prognathia Abnormality of the kidney Premature birth Hepatosplenomegaly Overgrowth Omphalocele Developmental regression Large for gestational age Pes planus Nevus flammeus Diastasis recti Patent ductus arteriosus Hemihypertrophy Visceromegaly Prominent nose Anterior creases of earlobe Hypertelorism Embryonal neoplasm Joint stiffness Wide nasal bridge Auricular pit Intellectual disability, mild Delayed speech and language development Intellectual disability Cleft palate Motor delay Hypertrophic cardiomyopathy Elevated serum creatine phosphokinase Arrhythmia Micrognathia Respiratory distress Myopathy Congestive heart failure Myalgia Increased muscle glycogen content Muscular hypotonia Cognitive impairment Blindness Global brain atrophy Inability to walk Generalized-onset seizure Status epilepticus Tetraparesis Progressive neurologic deterioration Choreoathetosis Cerebral visual impairment Loss of consciousness Lower limb hyperreflexia Hypermelanotic macule Hearing impairment Abnormal retinal morphology Developmental stagnation Multifocal epileptiform discharges Large face Hyporeflexia of upper limbs Developmental stagnation at onset of seizures Abnormal cortical bone morphology Pain Low-set ears Abnormality of skin pigmentation Generalized tonic-clonic seizures Retinal degeneration Visual impairment Hypertonia Midface retrusion Absent speech Hernia Visual loss Myoclonus Cerebral cortical atrophy Intellectual disability, severe Optic atrophy Abnormality of amino acid metabolism Vomiting Anterior beaking of lumbar vertebrae Flexion contracture Nystagmus Feeding difficulties in infancy Epicanthus Microcephaly Irritability Pallor Vascular skin abnormality Beaking of vertebral bodies Frontal bossing Macroorchidism Neurological speech impairment Dysostosis multiplex Abnormal vertebral morphology Sleep disturbance Upper airway obstruction Dyskinesia Prolonged partial thromboplastin time Thick vermilion border Periorbital fullness Malabsorption Carious teeth Microtia Protuberant abdomen Pectus carinatum Abnormality of the mitochondrion Prolonged prothrombin time Arthritis Recurrent respiratory infections Long hallux Spinal deformities Delayed skeletal maturation Expressive language delay Abnormality of the dentition Short nose Postauricular pit Hypoplastic nipples Macrocephaly Smooth philtrum Abnormality of the ulna Behavioral abnormality Long philtrum Abnormality of metabolism/homeostasis Prominent forehead Abdominal pain Hyperactivity Thin upper lip vermilion Elevated hepatic transaminase Attention deficit hyperactivity disorder Synophrys Joint hypermobility Thoracic hypoplasia High, narrow palate Memory impairment Low posterior hairline Thickened calvaria Hoarse voice Generalized hirsutism Sleep apnea Hyperkinesis Cholelithiasis Chronic otitis media 2-3 toe syndactyly Episodic abdominal pain Postnatal growth retardation Prune belly Facial palsy Autistic behavior Facial asymmetry Nephroblastoma Abnormality of the ureter Rhabdomyosarcoma Ptosis Areflexia Hyporeflexia Pneumonia Hypothyroidism Acidosis Hyperlordosis Micropenis Lactic acidosis Hepatic failure Generalized muscle weakness Waddling gait Lumbar hyperlordosis Respiratory insufficiency due to muscle weakness Ragged-red muscle fibers Myopathic facies Neck muscle weakness Mitochondrial myopathy Severe lactic acidosis Polyhydramnios Abnormal heart morphology Increased serum pyruvate Cardiomyopathy Dysphagia Dilatation Gastroesophageal reflux Limb muscle weakness Urinary incontinence Left ventricular hypertrophy Progressive muscle weakness Bowel incontinence Abnormality of refraction Diaphragmatic weakness Abnormality of lysosomal metabolism Ascites Clinodactyly Hypotension Cyanosis Bradycardia Exercise intolerance Heart murmur Myoglobinuria Sinus bradycardia Pulmonary edema Biventricular hypertrophy Shortened PR interval Neoplasm Decreased plasma carnitine Cytochrome C oxidase-negative muscle fibers Tethered cord Abnormality of the placenta Generalized myoclonic seizures Dehydration Oligohydramnios Precocious puberty Neonatal respiratory distress Prominent occiput Shallow orbits Hypoplastic fingernail Small anterior fontanelle Neonatal insulin-dependent diabetes mellitus Labial hypertrophy Strabismus Retrognathia Hypospadias Polydactyly Apnea Renal cyst Psoriasiform dermatitis Supernumerary nipple Neuroblastoma Syringomyelia Central hypotonia Abnormality of the vasculature Skin tags Joint laxity Intrauterine growth retardation Increased muscle lipid content Thick lower lip vermilion Muscle fiber hypertrophy Fever Skeletal muscle atrophy Hyperhidrosis Macrotia Arthralgia Abnormal pyramidal sign Skin rash Arthrogryposis multiplex congenita Arachnodactyly Lymphadenopathy Subcutaneous nodule Abnormality of the Leydig cells Lipodystrophy Hyperostosis Right bundle branch block Increased antibody level in blood Elevated erythrocyte sedimentation rate Microcytic anemia Lipoatrophy Episodic fever Clubbing of fingers Erythema nodosum Clubbing of toes Aspartylglucosaminuria


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