Hepatomegaly, and Overgrowth

Diseases related with Hepatomegaly and Overgrowth

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

Top matches:

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

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about BECKWITH-WIEDEMANN SYNDROME DUE TO CDKN1C MUTATION

Other less relevant matches:

Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

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

High match MULIBREY NANISM

MULIBREY nanism (MUL) is a prenatal onset growth disorder with multiorgan manifestations.

MULIBREY NANISM Is also known as mulibrey dwarfism|pericardial constriction and growth failure|muscle-liver-brain-eye nanism|perheentupa syndrome|pericardial constriction-growth failure syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULIBREY NANISM

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

High match PERLMAN SYNDROME

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.

ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME

Aspartylglucosaminuria is a severe autosomal recessive lysosomal storage disorder that involves the central nervous system and causes skeletal abnormalities as well as connective tissue lesions. The most characteristic feature is progressive mental retardation. The disorder is caused by deficient activity of the lysosomal enzyme glycosylasparaginase, which results in body fluid and tissue accumulation of a series of glycoasparagines, i.e., glycoconjugates with an aspartylglucosamine moiety at the reducing end. AGU belongs to the group of disorders commonly referred to as the Finnish disease heritage (summary by Mononen et al., 1993 and Arvio and Arvio, 2002).

ASPARTYLGLUCOSAMINURIA; AGU Is also known as glycoasparaginase|aga deficiency|aspartylglucosaminidase deficiency|aspartylglycosaminuria|glycosylasparaginase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA; AGU

Top 5 symptoms//phenotypes associated to Hepatomegaly and Overgrowth

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Macroglossia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Hepatosplenomegaly Abnormal facial shape Visceromegaly Large for gestational age Muscular hypotonia Polyhydramnios Cardiomyopathy Macrocephaly Edema Cleft palate Hemihypertrophy Umbilical hernia Enlarged kidney Short stature Nephroblastoma Neoplasm Cryptorchidism Inguinal hernia Premature birth Abnormality of the kidney Scoliosis Depressed nasal bridge Frontal bossing Blindness Wide nasal bridge Cerebral atrophy Hernia Ascites Strabismus Coarse facial features Hypertelorism Growth delay Abdominal distention Patent ductus arteriosus Hearing impairment Anterior creases of earlobe Diastasis recti Nevus flammeus Neonatal hypoglycemia Facial asymmetry Abnormality of the face Abdominal wall defect Abnormality of the outer ear Ventricular septal defect Auricular pit Hypoglycemia

Rare Symptoms - Less than 30% cases

Abnormality of the nervous system Dilatation Neutropenia Hypospadias High palate Polydactyly Nevus Apnea Hyperreflexia Hypoplastic frontal sinuses Developmental regression Abnormality of the ureter Broad forehead Omphalocele Thick lower lip vermilion Dolichocephaly Failure to thrive Feeding difficulties Epicanthus Sensorineural hearing impairment Gingival overgrowth Reduced tendon reflexes Recurrent infections Growth abnormality Intellectual disability, progressive Muscular hypotonia of the trunk Agenesis of corpus callosum Microcephaly Respiratory distress Motor delay Intellectual disability, severe Abnormality of the skeletal system Hemangioma Cataract EEG abnormality Cranial asymmetry Proptosis Ventriculomegaly Embryonal neoplasm Adenoma sebaceum Fever Brachydactyly Anemia Delayed speech and language development Cardiomegaly Capillary hemangioma Cavernous hemangioma Anteverted nares Hydronephrosis Congestive heart failure High forehead Brachycephaly Posteriorly rotated ears Wide mouth Deeply set eye Mandibular prognathia Synophrys Decreased antibody level in blood Renal hamartoma Nephrogenic rest Femoral hernia Naevus flammeus of the eyelid Intestinal atresia Broad alveolar ridges Hypophosphatemic rickets Pancreatic islet-cell hyperplasia Abnormality of pancreas morphology Interrupted aortic arch Prominent xiphoid process Fetal ascites Porencephalic cyst Nephroblastomatosis Lumbar scoliosis Abnormality of upper lip Hypoplasia of the abdominal wall musculature Ileal atresia Distal ileal atresia Thymus hyperplasia Long upper lip Hepatic fibrosis Thickened helices Micrognathia Abnormality of the pinna Hyperlordosis Retrognathia Prominent forehead Abnormality of finger Renal insufficiency Short nose Low-set ears Ptosis Nevus sebaceus Flat face Linear nevus sebaceous Odontogenic neoplasm Odontoma Abnormality of toe Nevus sebaceous Epidermal nevus Hemimegalencephaly Abnormality of dental color Asymmetric growth Smooth philtrum High, narrow palate Hypoxemia Tented upper lip vermilion Volvulus Thick upper lip vermilion Renal neoplasm Polysplenia Hamartoma Neurodevelopmental delay Global brain atrophy Hyperinsulinemia Polycystic kidney dysplasia Bilateral single transverse palmar creases Round face Gangrene Hyperphosphaturia Tall stature Renal dysplasia Open mouth Status epilepticus Lumbar hyperlordosis Congenital diaphragmatic hernia Hypoplasia of penis Specific learning disability Abnormality of the cardiovascular system Accelerated skeletal maturation Hypertension Nyctalopia Involuntary movements Mitral regurgitation Progressive neurologic deterioration Psychosis Neuronal loss in central nervous system Gliosis Generalized myoclonic seizures Wide nose Platyspondyly Erythema Hydrops fetalis Mental deterioration Joint laxity Gait ataxia Hyperactivity Myoclonus Recurrent respiratory infections Delayed skeletal maturation Visual loss Abnormality of metabolism/homeostasis Long philtrum Chronic diarrhea Aspiration Behavioral abnormality Spondylolisthesis Angiofibromas Oligosacchariduria Spondylolysis Angiokeratoma corporis diffusum Methemoglobinemia Angiokeratoma Facial edema Vacuolated lymphocytes Abnormality of the ovary Broad face Hoarse voice Macroorchidism Beaking of vertebral bodies Dysostosis multiplex Palpebral edema Thickened calvaria Muscle fibrillation Pathologic fracture Emotional lability Acne Widely spaced teeth Kyphosis Diarrhea Myopia Delayed eruption of teeth Dilatation of the cerebral artery Hemivertebrae Generalized hirsutism Thickened skin Nephrolithiasis Hypertrichosis Small nail Intellectual disability, profound Bilateral sensorineural hearing impairment Thick vermilion border Metaphyseal widening Hirsutism Short distal phalanx of finger Thick eyebrow Bulbous nose Joint hypermobility Congenital cataract Protruding ear Macrotia Dyspnea Downslanted palpebral fissures Spina bifida occulta Anonychia Short neck Everted upper lip vermilion Gait disturbance Cognitive impairment Spasticity Nystagmus Ataxia Mesiodens Short distal phalanx of toe Prominent eyelashes Aortic arch aneurysm Generalized hypertrichosis Pericardial effusion Biliary atresia Hyperextensibility of the finger joints Gingival fibromatosis Long penis Colpocephaly Thin bony cortex Dystrophic fingernails Broad ribs Protruding tongue Aortic root aneurysm Genu recurvatum J-shaped sella turcica Irregular hyperpigmentation Arrhythmia Metabolic acidosis Lactic acidosis Lethargy Stroke Feeding difficulties in infancy Acidosis Osteoporosis Constipation Encephalopathy Aciduria Thrombocytopenia Immunodeficiency Dystonia Vomiting Postauricular pit Prune belly Tethered cord Abnormality of earlobe Skin tags Coma Dehydration Central hypotonia Ketonuria Propionyl-CoA carboxylase deficiency Increased level of hippuric acid in urine Cerebellar hemorrhage Hyperglycinuria Acute encephalopathy Hyperglycinemia Episodic vomiting Methylmalonic aciduria Organic aciduria Ketoacidosis Eczema Ketosis Limb hypertonia Poor appetite Abnormality of immune system physiology Ischemic stroke Hyperammonemia Tachypnea Pancreatitis Pancytopenia Abnormality of the vasculature Syringomyelia Propionicacidemia Myalgia Vasculitis Meningitis Migraine Lymphadenopathy Nausea and vomiting Papule Skin rash Arthritis Arthralgia Purpura Skeletal dysplasia Fatigue Visual impairment Rhabdomyosarcoma Autistic behavior Micropenis Abnormal heart morphology Clinodactyly Muscle weakness Joint dislocation Increased intracranial pressure Neuroblastoma Delayed closure of the anterior fontanelle Supernumerary nipple Psoriasiform dermatitis Renal cyst Abnormal granulocyte morphology Retrobulbar optic neuritis Pseudopapilledema Abnormality of neutrophils Inflammatory abnormality of the eye Elevated C-reactive protein level Abnormal thrombocyte morphology Reduced bone mineral density Juvenile rheumatoid arthritis Uveitis Amyloidosis Arthropathy Abnormal joint morphology Progressive sensorineural hearing impairment Elevated erythrocyte sedimentation rate Leukocytosis Urticaria Intolerance to protein Abnormality of the dentition Osteomalacia Osteopenia Talipes Ophthalmoplegia Corneal opacity Attention deficit hyperactivity disorder Coloboma Abnormality of the eye Telecanthus Carcinoma Kyphoscoliosis Iris coloboma Alopecia Microphthalmia Syndactyly Talipes equinovarus Pericardial constriction Constrictive pericarditis Absent frontal sinuses Peripheral edema Fibroma Ichthyosis Hypopigmentation of the skin Prominent superficial veins Precocious puberty Biparietal narrowing Neurofibromas Basal cell carcinoma Vertebral segmentation defect Prominent occiput Abnormality of dental morphology Aplasia/Hypoplasia of the cerebellum Melanocytic nevus Rickets Abnormality of vision Recurrent fractures Aplasia/Hypoplasia of the corpus callosum Plagiocephaly Horseshoe kidney Exotropia Pachygyria Coarctation of aorta Cerebral calcification Dandy-Walker malformation Generalized muscle weakness Weak voice Myocardial fibrosis Malar flattening Dysarthria Small for gestational age Retinopathy Intellectual disability, moderate Diabetes mellitus Hypogonadism Severe short stature Depressivity Hypoplasia of the corpus callosum Intrauterine growth retardation Congenital megaureter Infertility Posterior helix pit Hemifacial hypertrophy Asymmetry of the thorax Mild global developmental delay Abnormal eyebrow morphology Prominent nose Full cheeks Hematuria Jaundice Delayed puberty Astigmatism Microglossia Pointed chin Scaphocephaly Insulin-resistant diabetes mellitus Pericarditis Slender long bone Pulmonary fibrosis High pitched voice Premature ovarian insufficiency Cachexia Acanthosis nigricans Increased body weight Cirrhosis Insulin resistance Dental crowding Epidermal acanthosis Type II diabetes mellitus Pigmentary retinopathy Cyanosis Growth hormone deficiency Triangular face Hypodontia Aspartylglucosaminuria


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