Hepatomegaly, and Brachycephaly

Diseases related with Hepatomegaly and Brachycephaly

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

Top matches:

Common variable immunodeficiency (CVID) comprises a heterogeneous group of diseases characterized by a significant hypogammaglobulinemia of unknown cause, failure to produce specific antibodies after immunizations and susceptibility to bacterial infections, predominantly caused by encapsulated bacteria.

COMMON VARIABLE IMMUNODEFICIENCY Is also known as primary antibody deficiency|cvid|antibody deficiency due to icos defect|idiopathic immunoglobulin deficiency|primary hypogammaglobulinemia

Related symptoms:

  • Hepatomegaly
  • Diarrhea
  • Splenomegaly
  • Immunodeficiency
  • Recurrent infections


SOURCES: ORPHANET OMIM MENDELIAN

More info about COMMON VARIABLE IMMUNODEFICIENCY

INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE Is also known as imnepd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about INFANTILE MULTISYSTEM NEUROLOGIC-ENDOCRINE-PANCREATIC DISEASE

High match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Other less relevant matches:

Gaucher disease - ophthalmoplegia - cardiovascular calcification is a variant of Gaucher disease, also known as a Gaucher-like disease that is characterized by cardiac involvement.

GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME Is also known as cardiovascular gaucher disease|gaucher-like disease|gaucher disease type 3c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about GAUCHER DISEASE-OPHTHALMOPLEGIA-CARDIOVASCULAR CALCIFICATION SYNDROME

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

High match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Cleft palate
  • Cryptorchidism
  • Epicanthus


SOURCES: ORPHANET MENDELIAN

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

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

High match ALG9-CDG

ALG9-CDG is a form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis (see this term). The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).

ALG9-CDG Is also known as cdg syndrome type il|cdg-il|carbohydrate deficient glycoprotein syndrome type 1l|cdg il|cdgil|congenital disorder of glycosylation type 1l|cdg1l|mannosyltransferase 7-9 deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALG9-CDG

High match FUCOSIDOSIS

Fucosidosis is an extremely rare lysosomal storage disorder characterized by a highly variable phenotype with common manifestations including neurologic deterioration, coarse facial features, growth retardation, and recurrent sinopulmonary infections, as well as seizures, visceromegaly, angiokeratoma and dysostosis.

FUCOSIDOSIS Is also known as alpha-l-fucosidase deficiency

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about FUCOSIDOSIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Brachycephaly

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Short stature Failure to thrive Hearing impairment Generalized hypotonia Cerebellar atrophy Delayed speech and language development Spasticity Growth delay Cardiomegaly Muscular hypotonia Hyperreflexia Muscle weakness Hepatosplenomegaly Dystonia Abnormal facial shape Hypertonia Strabismus Hyporeflexia Hypothyroidism Epicanthus Frontal bossing Gait disturbance Kyphosis Elevated hepatic transaminase Recurrent infections Abnormality of the dentition Scoliosis Skeletal dysplasia

Rare Symptoms - Less than 30% cases

Hydrocephalus Carious teeth Prominent nose Abnormality of the face Abnormality of the nail Abnormality of pelvic girdle bone morphology Macroglossia Generalized-onset seizure Respiratory distress Visceromegaly Cerebral atrophy Hyperkeratosis Poor speech Telangiectasia Pancytopenia Abnormality of the skeletal system Wide nasal bridge Delayed skeletal maturation Hyperlordosis Proptosis Corneal opacity Depressed nasal bridge Hypodontia Abnormality of the cerebral white matter EEG abnormality Spastic tetraplegia Intellectual disability, severe Inverted nipples Micrognathia Myopia Low-set ears Brain atrophy Pain Decreased body weight Macrocephaly Dry skin Generalized tonic-clonic seizures Malar flattening Prominent forehead Osteoporosis Cryptorchidism Cognitive impairment Restrictive ventilatory defect Decreased fetal movement Lymphoma Hip dislocation Chronic otitis media Recurrent respiratory infections Immunodeficiency Lymphadenopathy Midface retrusion Motor delay Sensorineural hearing impairment Flexion contracture Ataxia Abnormality of the liver Hemihypertrophy Fatigue Tremor Intrauterine growth retardation Dysarthria Feeding difficulties Anterior creases of earlobe Cataract Congenital megaureter Auricular pit Posterior helix pit Abdominal wall defect Hemifacial hypertrophy Asymmetry of the thorax Progressive microcephaly Arthralgia Myopathy Pneumonia Hip dysplasia Focal-onset seizure Waddling gait Chorea Muscle cramps Hepatic steatosis Inability to walk Unsteady gait Abnormality of movement Congenital cataract Diastasis recti Muscular dystrophy Attention deficit hyperactivity disorder Myalgia Proximal muscle weakness Difficulty walking Cerebral cortical atrophy Constipation Elevated serum creatine phosphokinase Absent speech Mild global developmental delay Neonatal hypoglycemia Abnormal eyebrow morphology Delayed eruption of permanent teeth Cleft palate Abnormal pelvis bone ossification Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Persistence of primary teeth Patent ductus arteriosus Abnormal pattern of respiration Low back pain Small face Ridged nail Spondylolisthesis Osteolytic defects of the phalanges of the hand Osteopetrosis Abnormality of the clavicle Abnormality of the vertebral column Ventricular septal defect Mandibular prognathia Capillary hemangioma Premature birth Nevus flammeus Enlarged kidney Lower limb spasticity Abnormality of the ureter Large for gestational age Nephroblastoma Abnormality of the outer ear Overgrowth Full cheeks Polyhydramnios Autoimmunity Abdominal distention Hematuria Facial asymmetry Synophrys Abnormality of the kidney Deeply set eye Jaundice Umbilical hernia Apraxia Limb-girdle muscular dystrophy Truncal ataxia Spastic gait Dysostosis multiplex Acrocyanosis Hypoplasia of the odontoid process Lipoatrophy Neurodevelopmental delay Decreased muscle mass Anhidrosis Coxa valga Gingival overgrowth Mucopolysacchariduria Abnormal form of the vertebral bodies Abnormality of the cardiovascular system Highly arched eyebrow Dysmetria Abnormal pyramidal sign Conductive hearing impairment Coarse facial features Kyphoscoliosis Hyperhidrosis Abnormal cornea morphology Vacuolated lymphocytes Skeletal muscle atrophy Abnormality of mucopolysaccharide metabolism Glycopeptiduria Tortuosity of conjunctival vessels Elevated sweat chloride Abnormality of central motor function Eye of the tiger anomaly of globus pallidus Anterior beaking of lumbar vertebrae Increased hepatic glycogen content Abnormality of the acetabulum Abnormal globus pallidus morphology Abnormality of the abdominal wall Angiokeratoma corporis diffusum Oligosacchariduria Abnormality of the gallbladder Progressive psychomotor deterioration Angiokeratoma Broad long bones Generalized hyperkeratosis Vascular skin abnormality Cerebral hypomyelination Hernia Delayed CNS myelination Scapular winging Speech apraxia Exophoria Cerebral white matter atrophy Abnormal levels of creatine kinase in blood Intellectual disability, borderline Right ventricular dilatation Alacrima Muscle fiber atrophy Recurrent ear infections Achalasia Atrial septal defect Esophagitis Progressive proximal muscle weakness Adrenal insufficiency Athetosis Impulsivity Gowers sign Prominent occiput CNS hypomyelination Infantile muscular hypotonia Edema Short nose Nonimmune hydrops fetalis Broad thumb Central hypotonia Aplasia cutis congenita Pericardial effusion Global brain atrophy Cutis marmorata Tricuspid regurgitation Lipodystrophy Hydrops fetalis Epileptic encephalopathy Long philtrum Wide intermamillary distance Esotropia Delayed myelination Asthma Ascites Hepatic failure Abnormal cardiac septum morphology Wide mouth Encephalopathy Agenesis of permanent teeth Anal atresia Osteomyelitis Cachexia Foam cells Supranuclear gaze palsy Communicating hydrocephalus Mitral stenosis Abnormal EKG Abnormal heart valve morphology Exertional dyspnea Heart murmur Aortic regurgitation Abnormal aortic valve morphology Oculomotor apraxia Opacification of the corneal stroma Horizontal nystagmus Aortic valve stenosis Recurrent infection of the gastrointestinal tract Mitral regurgitation Ventricular hypertrophy Autoimmune neutropenia Abnormal mitral valve morphology Abnormality of the pulmonary artery Ophthalmoplegia Bacterial endocarditis Cardiovascular calcification Aortic arch calcification Abnormal common carotid artery morphology Hypometric horizontal saccades Slowed horizontal saccades Cardiac valve calcification Abnormality of toe Decreased beta-glucocerebrosidase protein and activity Calcification of the aorta Abnormal aortic morphology Elevated serum acid phosphatase Abnormal aortic arch morphology Spontaneous, recurrent epistaxis Supranuclear ophthalmoplegia Mitral valve calcification Corneal crystals Abnormal saccadic eye movements Aortic valve calcification Reticular hyperpigmentation Humoral immunodeficiency Posterior pharyngeal cleft Gastrointestinal stroma tumor Progressive cerebellar ataxia Malabsorption Leukemia Erythema Telecanthus Abnormality of the nervous system Upslanted palpebral fissure Clinodactyly of the 5th finger Thrombocytopenia Postnatal microcephaly Hypoplasia of penis Exotropia Hepatic fibrosis Pancreatic fibrosis Ankle contracture Exocrine pancreatic insufficiency Shawl scrotum Steatorrhea Proximal placement of thumb Thin vermilion border Type II diabetes mellitus Pallor Abnormality of chromosome stability Pes cavus Congestive heart failure Peripheral neuropathy Talipes equinovarus Thin upper lip vermilion Large beaked nose Bird-like facies Abnormality of bone marrow cell morphology Acute leukemia Cutaneous photosensitivity Severe combined immunodeficiency Biparietal narrowing Telangiectasia of the skin Combined immunodeficiency Leukocytosis Psoriasiform dermatitis Myelodysplasia Low anterior hairline Distal muscle weakness Nystagmus Impaired T cell function Abnormality of dental morphology Recurrent otitis media Delayed eruption of teeth Short distal phalanx of finger Narrow chest Craniosynostosis Decreased antibody level in blood Apnea Otitis media High forehead Bronchiectasis Postural instability Sinusitis Lymphopenia Vasculitis Recurrent pneumonia Recurrent bacterial infections Brachydactyly Anemia Diarrhea Recurrent fractures Hypoplasia of the maxilla Purpura Wormian bones Abnormality of the thorax Back pain Increased susceptibility to fractures Sensorimotor neuropathy Sleep apnea Osteolysis Abnormality of the fingernails Narrow palate Increased bone mineral density Neutropenia Short toe Bone pain Abnormal vertebral morphology Abnormality of epiphysis morphology Hemolytic anemia Small nail Blue sclerae Abnormality of the skin Growth hormone deficiency Conjunctivitis Diffuse hepatic steatosis B lymphocytopenia IgA deficiency Neonatal hypotonia Recurrent sinusitis Osteopenia Respiratory failure Polydactyly Myoclonus Babinski sign Abnormality of metabolism/homeostasis Blindness Irritability Autoimmune thrombocytopenia Hypoplasia of the corpus callosum Respiratory insufficiency Dysphagia IgG deficiency Recurrent bronchitis Optic atrophy Lymphoproliferative disorder IgM deficiency Developmental regression Retinopathy No social interaction Intellectual disability, progressive Abnormality of nervous system morphology Tapetoretinal degeneration CNS demyelination Decreased light- and dark-adapted electroretinogram amplitude Abnormality of visual evoked potentials Abnormal intestine morphology Hand polydactyly Abnormal electroretinogram Leukodystrophy Neurological speech impairment Failure to thrive in infancy Bilateral sensorineural hearing impairment Pigmentary retinopathy Peripheral demyelination Emphysema Tetraplegia Retinal degeneration Bronchitis Severe global developmental delay Anterior beaking of thoracic vertebrae


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Autoimmunity and Hepatosplenomegaly, related diseases and genetic alterations Motor delay and Inguinal hernia, related diseases and genetic alterations