Hepatomegaly, and Hyperlordosis

Diseases related with Hepatomegaly and Hyperlordosis

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


Top matches:

High match GLYCOGEN STORAGE DISEASE IV; GSD4


GLYCOGEN STORAGE DISEASE IV; GSD4 Is also known as andersen disease|brancher deficiency|gbe1 deficiency|amylopectinosis|gsd iv|glycogen branching enzyme deficiency|cirrhosis, familial, with deposition of abnormal glycogen|glycogenosis iv

Related symptoms:

  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE IV; GSD4

High match MITOCHONDRIAL MYOPATHY WITH REVERSIBLE CYTOCHROME C OXIDASE DEFICIENCY


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

High match SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE


Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE Is also known as semd, shohat type

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE

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Other less relevant matches:

High match GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY


Fanconi-Bickel glycogenosis (FBG) is a rare glycogen storage disease characterized by hepatorenal glycogen accumulation, severe renal tubular dysfunction and impaired glucose and galactose metabolism.

GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY Is also known as gsd due to glut2 deficiency|glycogenosis due to glut2 deficiency|gsd type 11|glycogen storage disease type 11|gsd type xi|glycogenosis, fanconi type|fanconi-bickel disease|hepatorenal glycogenosis with renal fanconi syndrome|hepatic glycogenosis with fanc

Related symptoms:

  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLUT2 DEFICIENCY

High match RIGID SPINE SYNDROME


Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

High match NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME


A syndrome associating neonatal diabetes, congenital hypothyroidism, congenital glaucoma, hepatopathy evolving to fibrosis and polykystic kidneys has been described in two sibs. Minor facial anomalies were also observed. Two other families presented incomplete forms of this syndrome. Mutations in GLIS3 encoding for the transcription factor GLI similar 3 seem to be responsible of the syndrome.

NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME Is also known as ndh syndrome

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NEONATAL DIABETES-CONGENITAL HYPOTHYROIDISM-CONGENITAL GLAUCOMA-HEPATIC FIBROSIS-POLYCYSTIC KIDNEYS SYNDROME

High match MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A


Mucopolysaccharidosis type IVA is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system (CNS) involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life (Montano et al., 2008).McKusick (1972) noted that between 1929 and 1959, a miscellany of skeletal disorders was included in the Morquio category, including various types of spondyloepiphyseal dysplasia (see, e.g., {183900}) and multiple epiphyseal dysplasia (see, e.g., {132400}).Nelson et al. (1988) proposed the division of MPS IVA into 3 subgroups: severe classic, intermediate, and mild, reflecting clinical variability observed in 12 enzymatically proven cases. Those who were only mildly affected showed a relatively high residual enzyme activity.

MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A Is also known as galactosamine-6-sulfatase deficiency|mps iva|galns deficiency|morquio a disease|morquio syndrome a

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hepatomegaly
  • Abnormality of the dentition


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A

High match MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B


Mucopolysaccharidosis type IVB is an autosomal recessive disorder characterized by skeletal dysplasia and corneal clouding. There is no central nervous system involvement and intelligence is normal. There is increased urinary keratan sulfate excretion (Suzuki et al., 2001).See mucopolysaccharidosis type IVA (OMIM ), also known as Morquio syndrome A, a genetically distinct disorder with overlapping clinical features caused by mutation in the GALNS gene (OMIM ) on chromosome 16q24.There may also be a nonkeratansulfate-excreting form of Morquio syndrome, so-called type C (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B Is also known as morquio syndrome b|mps ivb

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IVB; MPS4B

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

High match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S


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

Top 5 symptoms//phenotypes associated to Hepatomegaly and Hyperlordosis

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Hyporeflexia Uncommon - Between 30% and 50% cases
Pain Uncommon - Between 30% and 50% cases
Waddling gait Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Carious teeth Failure to thrive Hepatosplenomegaly Global developmental delay Generalized hypotonia Myopathy Muscle weakness Osteoporosis Growth delay Platyspondyly Joint laxity Severe short stature Kyphosis Splenomegaly Hearing impairment Metaphyseal widening Motor delay Hypertension Muscular dystrophy Abnormality of the liver Skeletal dysplasia Proximal muscle weakness Apnea Pneumonia Restrictive ventilatory defect

Rare Symptoms - Less than 30% cases


Neck muscle weakness Disproportionate short-trunk short stature Recurrent upper respiratory tract infections Depressed nasal bridge Gait disturbance Spondyloepiphyseal dysplasia Hypoplasia of the odontoid process Prominent sternum Flaring of rib cage Abdominal distention Constricted iliac wings Brachycephaly Hepatic steatosis Osteopenia Constipation Fever Cataract Respiratory failure Abnormal vertebral morphology Gowers sign Pointed proximal second through fifth metacarpals Cervical myelopathy Epiphyseal deformities of tubular bones Keratan sulfate excretion in urine Grayish enamel Widely spaced teeth Wormian bones Cervical subluxation Abnormality of epiphysis morphology Thoracolumbar scoliosis Ulnar deviation of the wrist Lumbar hyperlordosis Ovoid vertebral bodies Opacification of the corneal stroma Hepatic failure Mandibular prognathia Limb-girdle muscular dystrophy Portal hypertension Inguinal hernia Abnormality of the dentition Hepatic fibrosis Craniosynostosis Ascites Cirrhosis Coarse facial features Limb muscle weakness Generalized muscle weakness Difficulty walking Congestive heart failure Edema Cardiomyopathy Skeletal muscle atrophy Flexion contracture Muscular hypotonia Myopathic facies Arthrogryposis multiplex congenita Wide mouth High palate Coxa valga Esophageal varix Myalgia Hypothyroidism Facial palsy Genu valgum Respiratory insufficiency Feeding difficulties Elevated serum creatine phosphokinase Corneal opacity Intrauterine growth retardation Abnormality of the skeletal system Acidosis Narrow chest Hiatus hernia Prominent nose Macrocephaly Hypoplasia of the maxilla Frontal bossing Buphthalmos Hypodontia Postural instability Hydrocephalus Recurrent fractures Malar flattening Short distal phalanx of finger Prominent forehead Epiphyseal dysplasia Delayed eruption of teeth Proptosis High forehead Abnormal heart valve morphology Midface retrusion Intimal thickening in the coronary arteries Sagittal craniosynostosis Chondroitin sulfate excretion in urine Corneal crystals Atlantoaxial dislocation Avascular necrosis of the capital femoral epiphysis Pectus carinatum Multiple epiphyseal dysplasia Cervical cord compression Splenic cyst Pancreatic hypoplasia Abnormality of the skin Beaking of vertebral bodies Large elbow Brachydactyly Abnormality of the nervous system Pancreatic cysts Aortic valve stenosis Dysostosis multiplex Thoracolumbar kyphosis Hip pain Decreased beta-galactosidase activity Cystic renal dysplasia Micrognathia Cognitive impairment Anemia Growth hormone deficiency Spondylolisthesis Blue sclerae Attention deficit hyperactivity disorder Chorea Muscle cramps Inability to walk Unsteady gait Abnormality of movement Poor speech Congenital cataract Generalized tonic-clonic seizures Elevated hepatic transaminase Hip dysplasia EEG abnormality Hyperkeratosis Cerebral cortical atrophy Absent speech Cerebral atrophy Dystonia Cerebellar atrophy Fatigue Focal-onset seizure Generalized-onset seizure Myopia Achalasia Cerebral white matter atrophy Abnormal levels of creatine kinase in blood Intellectual disability, borderline Right ventricular dilatation Alacrima Muscle fiber atrophy Recurrent ear infections Speech apraxia Esophagitis Apraxia Progressive proximal muscle weakness Adrenal insufficiency Athetosis Impulsivity CNS hypomyelination Infantile muscular hypotonia Scapular winging Truncal ataxia Lower limb spasticity Tremor Dysarthria Small nail Abnormality of pelvic girdle bone morphology Abnormality of the vertebral column Agenesis of permanent teeth Prominent occiput Osteomyelitis Abnormality of dental morphology Abnormality of the thorax Back pain Increased susceptibility to fractures Sleep apnea Osteopetrosis Osteolysis Abnormality of the fingernails Narrow palate Abnormality of the nail Increased bone mineral density Short toe Bone pain Abnormality of the face Abnormality of the clavicle Osteolytic defects of the phalanges of the hand Delayed speech and language development Osteolytic defects of the distal phalanges of the hand Spasticity Strabismus Ataxia Microcephaly Seizures Intellectual disability Abnormal pelvis bone ossification Persistent open anterior fontanelle Spondylolysis Congenital hypothyroidism Snoring Absent frontal sinuses Delayed eruption of primary teeth Delayed eruption of permanent teeth Persistence of primary teeth Abnormal pattern of respiration Low back pain Small face Ridged nail Enlarged kidney Muscle fiber necrosis Congenital glaucoma Disproportionate short stature Spondyloepimetaphyseal dysplasia Upper airway obstruction Short femur Vertebral compression fractures Flat acetabular roof Delayed epiphyseal ossification Bell-shaped thorax Short thorax Vertebral hypoplasia Thoracic hypoplasia Short femoral neck Flared metaphysis Metaphyseal irregularity Genu varum Coxa vara Short ribs Hoarse voice Abnormality of the abdominal wall Narrow greater sacrosciatic notches Limb undergrowth Nephropathy Hypokalemia Hypercholesterolemia Hyperlipidemia Pancreatitis Aminoaciduria Increased body weight Metabolic acidosis Malabsorption Narrow vertebral interpedicular distance Proteinuria Hypoglycemia Obesity Vomiting Abnormal epiphyseal ossification Central vertebral hypoplasia Fibular overgrowth Short iliac bones Abnormality of the ribs Round face Hypercalciuria Exercise intolerance Tubulointerstitial fibrosis Generalized edema Fetal akinesia sequence Exertional dyspnea Difficulty climbing stairs Akinesia Reduced tendon reflexes Decreased liver function Ptosis Hydrops fetalis Decreased fetal movement Sudden cardiac death Dilated cardiomyopathy Polyhydramnios Dyspnea Talipes equinovarus Peripheral neuropathy Limb joint contracture Respiratory distress Thin vermilion border Increased serum pyruvate Micromelia Joint hyperflexibility Arthralgia Short neck Muscle fiber hypertrophy Increased muscle glycogen content Increased muscle lipid content Cytochrome C oxidase-negative muscle fibers Decreased plasma carnitine Areflexia Severe lactic acidosis Mitochondrial myopathy Ragged-red muscle fibers Respiratory insufficiency due to muscle weakness Increased serum lactate Macroglossia Lactic acidosis Pes planus Elevated alkaline phosphatase Polydipsia Polycystic kidney dysplasia Nocturnal hypoventilation Type 1 and type 2 muscle fiber minicore regions Abnormality of skeletal morphology Limited neck flexion Hamstring contractures Minicore myopathy Crackles Orthopnea Peroneal muscle atrophy Cardiac conduction abnormality Reduced vital capacity Respiratory arrest Axial muscle weakness Abnormality of the rib cage Restrictive deficit on pulmonary function testing Cor pulmonale Right ventricular hypertrophy Malignant hyperthermia Abnormality on pulmonary function testing Sensorineural hearing impairment Hip contracture Thin upper lip vermilion Wide anterior fontanel Cholestasis Choanal atresia Bilateral sensorineural hearing impairment Hepatitis Sepsis Renal cyst Abnormality of the kidney Umbilical hernia Abnormal facial shape Glaucoma Diabetes mellitus Hernia Recurrent infections Long philtrum Atrial septal defect Epicanthus Low-set ears Hypoventilation Spinal rigidity Rickets Poor appetite Microalbuminuria Fasting hypoglycemia Hyperphosphaturia Ketonuria Renal tubular dysfunction Ketosis Protuberant abdomen Renal tubular acidosis Hypouricemia Hyperuricemia Osteomalacia Glycosuria Reduced subcutaneous adipose tissue Hypophosphatemia Bowing of the legs Polyuria Hyperglycemia Generalized aminoaciduria Hypergalactosemia Generalized amyotrophy Abnormality of the cerebral white matter High pitched voice Increased variability in muscle fiber diameter Congenital muscular dystrophy Nasal speech Poor head control Elbow flexion contracture Progressive muscle weakness Ventricular hypertrophy Cough Mild proteinuria Neonatal hypotonia Rigidity Chronic acidosis Galactose intolerance Impairment of galactose metabolism Hyperuricosuria Galactosuria Albuminuria Exophoria



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