Hepatomegaly, and Hyperglycemia

Diseases related with Hepatomegaly and Hyperglycemia

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


Top matches:

High match FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE


Familial partial lipodystrophy, Köbberling type, is a very rare form of familial partial lipodystrophy (FPLD; see this term) of unknown etiology characterized by lipoatrophy that is confined to the limbs and a normal or increased fat distribution of the face, neck, and trunk. Arterial hypertension and diabetes have also been associated. Inheritance is thought to be autosomal dominant.

FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE Is also known as fpld1|familial partial lipodystrophy type 1|lipodystrophy, familial partial, kobberling type

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Obesity
  • Diabetes mellitus
  • Hepatic steatosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, KÖBBERLING TYPE

High match PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY


This type can be caused by mutation in the gene encoding PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR GAMMA.

PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY Is also known as familial partial lipodystrophy type 3|fpld3|pparg-related fpld|lipodystrophy, familial partial, associated with pparg mutations

Related symptoms:

  • Hypertension
  • Hepatomegaly
  • Myopathy
  • Congestive heart failure
  • Splenomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about PPARG-RELATED FAMILIAL PARTIAL LIPODYSTROPHY

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

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Other less relevant matches:

High match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

High match FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

High match WOLCOTT-RALLISON SYNDROME


Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure.

WOLCOTT-RALLISON SYNDROME Is also known as iddm-med syndrome|med-iddm syndrome|wolcott-rallison syndrome|wrs|early-onset diabetes mellitus with multiple epiphyseal dysplasia

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about WOLCOTT-RALLISON SYNDROME

High match H SYNDROME


H syndrome is a systemic inherited histiocytosis, with characteristic cutaneous findings accompanying systemic manifestations. H syndrome refers to the major clinical findings of hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, hypogonadism, low height, and occasionally, hyperglycemia/diabetes mellitus. Due to overlapping clinical features, H syndrome is now considered to include pigmented hypertrichosis with insulin dependent diabetes mellitus syndrome (PHID), Faisalabad histiocytosis (FHC) and familial sinus histiocytosis with massive lymphadenopathy (FSHML).

H SYNDROME Is also known as sinus histiocytosis and massive lymphadenopathy|hjcd|shml|hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, and hypogonadism with or without hearing loss|h syndrome|faisalabad histiocytosis|pigmented hypertrichosis wi

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about H SYNDROME

High match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

High match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Medium match GLYCOGEN STORAGE DISEASE VI; GSD6


GLYCOGEN STORAGE DISEASE VI; GSD6 Is also known as phosphorylase deficiency glycogen-storage disease of liver|hers disease|gsd vi

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE VI; GSD6

Top 5 symptoms//phenotypes associated to Hepatomegaly and Hyperglycemia

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Growth delay Common - Between 50% and 80% cases
Diabetes mellitus Common - Between 50% and 80% cases
Epidermal acanthosis Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Hypertriglyceridemia

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive Hyperuricemia Splenomegaly Hepatosplenomegaly Insulin-resistant diabetes mellitus Lipoatrophy Hypertension Lipodystrophy Pancreatitis Hyperlipidemia Acanthosis nigricans Hepatic steatosis Obesity Hypoglycemia Severe short stature Cardiomyopathy Renal insufficiency Reduced subcutaneous adipose tissue Myalgia Hyperkeratosis Congestive heart failure Seizures Intellectual disability Hyperinsulinemia Insulin resistance Hypercholesterolemia Polycystic ovaries Osteoporosis Delayed skeletal maturation Decreased HDL cholesterol concentration Dilatation Cognitive impairment Muscular hypotonia Strabismus Nystagmus Hypothyroidism Osteopenia Glycosuria Irritability Hypermetropia Epicanthus Motor delay Hypertelorism Cataract Hyperpigmentation of the skin Generalized hypotonia Nephropathy Alopecia Elevated hepatic transaminase Abnormal heart morphology Hirsutism Postnatal growth retardation Loss of subcutaneous adipose tissue in limbs Xanthomatosis Prominent superficial veins Ketoacidosis Myopathy Hypertrophic cardiomyopathy Infertility Acute pancreatitis Delayed puberty Atherosclerosis Coronary artery atherosclerosis Hypogonadism Thin skin Apnea Generalized hirsutism Neurodevelopmental delay Growth hormone deficiency

Rare Symptoms - Less than 30% cases


Feeding difficulties Pain Anemia Myocarditis High palate Depressed nasal bridge Delayed speech and language development Brachydactyly Sparse hair Glomerulopathy Micrognathia Kyphoscoliosis Hematemesis Melena Scoliosis Abnormality of the dentition Respiratory failure Gastroesophageal reflux Round face Fatigue Thin vermilion border High forehead Pectus excavatum Abnormality of the skeletal system Hyperhidrosis Respiratory insufficiency Short neck Gynecomastia Kyphosis Conductive hearing impairment Intellectual disability, mild Hernia Clinodactyly Patent ductus arteriosus Pneumonia Posteriorly rotated ears Proptosis Dyspnea Pes planus Low-set, posteriorly rotated ears Atrial septal defect Abnormality of the kidney Cardiomegaly Retinopathy Pectus carinatum Hypotrichosis Lymphadenopathy Mitral valve prolapse Overgrowth Decreased testicular size Edema Hydrocephalus Weight loss Acute hepatic failure Jaundice Hepatic failure Recurrent fractures Hepatitis Blue sclerae Type I diabetes mellitus Multifocal atrial tachycardia Exocrine pancreatic insufficiency Barrel-shaped chest Severe sensorineural hearing impairment Anteverted nares Pancreatic hypoplasia Chronic hepatic failure Hypergonadotropic hypogonadism Tachycardia Hearing impairment Sensorineural hearing impairment Ptosis Frontal bossing Ventricular septal defect Ventriculomegaly Pulmonic stenosis Microcytic anemia Full cheeks Dysmenorrhea Dilated cardiomyopathy Cerebral cortical atrophy Ketosis Aplasia/Hypoplasia of the skin Secondary amenorrhea Oligomenorrhea Maternal diabetes Arrhythmia Absent speech Malabsorption Hyperlipoproteinemia Polydipsia Ichthyosis Eclampsia Polyuria Abnormality of skeletal muscle fiber size Hyperlordosis Fever Vomiting Albuminuria Constipation Proteinuria Fasting hypoglycemia Acidosis Dry skin Skeletal muscle hypertrophy Neutropenia Abdominal distention Increased body weight Glucose intolerance Truncal obesity Sleep disturbance Abnormality of the musculature Recurrent pneumonia Aspiration Ascites Tetraplegia Absence of subcutaneous fat Increased adipose tissue around the neck Renal tubular dysfunction Loss of gluteal subcutaneous adipose tissue Elevated alkaline phosphatase Primary amenorrhea Myocardial infarction Cyanosis Cirrhosis Amenorrhea Increased facial adipose tissue Abnormal adipose tissue morphology Abnormal retinal artery morphology Granular macular appearance Abnormality of prothrombin EEG with occipital slowing Hyperostosis frontalis interna Receptive language delay Precocious puberty in females Widely-spaced incisors Glue ear Recurrent cystitis Chronic active hepatitis Thickened ears Pericarditis Nonproductive cough Unilateral breast hypoplasia Dilatation of the bladder Macrocephaly Abnormality of renal calyx morphology Progressive sensorineural hearing impairment Hydroureter Talipes equinovarus Urinary urgency Abnormal retinal morphology Pericardial effusion Dysphagia Chorioretinal atrophy Downslanted palpebral fissures Polyphagia Short finger Agenesis of permanent teeth Bronchitis Localized hirsutism Increased circulating androgen level Myopia Dysarthria Increased number of teeth Subcapsular cataract Low-set ears Cryptorchidism Abnormal facial shape Neoplasm Abnormality of the femoral head Vitreous haze Exudative retinopathy Endocardial fibroelastosis High-frequency sensorineural hearing impairment Frontal balding Abnormality of female external genitalia Multinodular goiter Bull's eye maculopathy Esophageal varix Vertical nystagmus Increased total bilirubin First degree atrioventricular block Urethral stenosis Abnormality of the optic disc Decreased glomerular filtration rate Abnormal spermatogenesis Chronic obstructive pulmonary disease Chronic infection Abnormality of the urethra Hepatic encephalopathy Restrictive cardiomyopathy Myocardial fibrosis Arteriosclerosis Disinhibition Abnormal renal physiology Abnormal left ventricle morphology Testicular atrophy Tubulointerstitial fibrosis Elevated C-reactive protein level Urinary retention High-frequency hearing impairment Abnormal renal morphology Poor fine motor coordination Pyelonephritis Chills Achromatopsia Menstrual irregularities Ovarian cyst Chronic fatigue Male hypogonadism Childhood-onset truncal obesity Hypoventilation Peripheral visual field loss Female hypogonadism Abnormal muscle tone Retinal atrophy Renovascular hypertension Squared iliac bones Urethral obstruction Hyperventilation Retinal pigment epithelial atrophy Hypoplastic male external genitalia Autoimmune thrombocytopenia Hepatic necrosis Facial hirsutism ST segment depression Thoracic scoliosis Alopecia of scalp Poor coordination Lumbar scoliosis Right ventricular hypertrophy Oligospermia Abnormality of dental color Tubular atrophy Epigastric pain Recurrent bronchitis Elevated serum creatinine Attenuation of retinal blood vessels Impaired temperature sensation Tubulointerstitial nephritis Pendular nystagmus Gingivitis Abnormal chorioretinal morphology Broad foot Posterior subcapsular cataract Urethral stricture Abnormality of the pituitary gland Abnormal dermatoglyphics Short nose Concave nail Labial hypoplasia Deep palmar crease Asymmetric septal hypertrophy Abnormal mitral valve morphology Broad philtrum Hypoplasia of teeth Pneumothorax Abnormality of the testis Hyperextensibility of the finger joints Rhabdomyosarcoma Broad femoral neck Schwannoma Abnormality of earlobe Limited elbow movement Fetal distress Redundant neck skin Lack of skin elasticity Papilloma Fragile nails Neonatal hypoglycemia Soft skin Obstructive sleep apnea Severe postnatal growth retardation Microscopic hematuria Thickened nuchal skin fold Megalencephaly Central apnea Progeroid facial appearance Woolly hair Large earlobe Thick upper lip vermilion Achilles tendon contracture Large forehead Verrucae Bronchomalacia Large face Syringomyelia Myofiber disarray Choroid plexus papilloma Bladder carcinoma Cardiomyocyte hypertrophy Loose anagen hair Macrocephaly at birth Enlarged cerebellum Vitreomacular adhesion Embryonal rhabdomyosarcoma Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Congenital neuroblastoma Thickened Achilles tendon Systolic heart murmur Increased corneal curvature Neonatal sepsis Deep-set nails Thin nail Ulnar deviation of the wrist Deep plantar creases Triangular mouth Capillary malformation Bladder neoplasm Abnormal pulmonary valve morphology Duodenal ulcer Body odor Vestibular Schwannoma Postprandial hyperglycemia Shyness Hypopnea Concentric hypertrophic cardiomyopathy Transitional cell carcinoma of the bladder Ganglioneuroblastoma Frontal hirsutism Arnold-Chiari type I malformation Central hypotonia Long philtrum Webbed neck High, narrow palate Postural instability Macroglossia Sepsis Nevus Premature birth Abnormality of the skin Thick vermilion border Hip dysplasia Eczema Apraxia Thick lower lip vermilion Atrial fibrillation Hypoplasia of dental enamel Decreased body weight Hematuria Wide nose Wide anterior fontanel Carcinoma Cerebral atrophy Abnormality of cardiovascular system morphology Inguinal hernia Pes cavus Polyhydramnios Coarse facial features Abnormality of the nervous system Joint hypermobility Joint laxity Intellectual disability, moderate Feeding difficulties in infancy Wide mouth Arthrogryposis multiplex congenita Joint hyperflexibility Astigmatism Long eyelashes Lymphedema Tracheomalacia Tricuspid regurgitation Failure to thrive in infancy Aortic aneurysm Pleural effusion Heart murmur Bilateral cryptorchidism Hypoplastic toenails Rocker bottom foot Pyloric stenosis Large for gestational age Keratoconus Curly hair Neuroblastoma Rhabdomyolysis Ulnar deviation of finger Generalized hyperpigmentation Redundant skin Hyperextensible skin Hydrops fetalis Short chin Cafe-au-lait spot Abnormality of the hair Hoarse voice Pointed chin Narrow palate Abnormality of dental enamel Abnormality of the fingernails Poor suck Cutis laxa Emphysema Infantile muscular hypotonia Hemangioma Arnold-Chiari malformation Relative macrocephaly Laryngomalacia Pulmonary fibrosis Cervical lymphadenopathy Diabetes insipidus Labial pseudohypertrophy Coma Genu valgum Platyspondyly Hip dislocation Joint stiffness Brachycephaly Upslanted palpebral fissure Hypertonia Diarrhea Gait disturbance Intrauterine growth retardation Spasticity Microcephaly Increased intramuscular fat Myelin tomacula Microdontia Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Sunken cheeks Abnormality of complement system Adipose tissue loss Osteopoikilosis Increased intraabdominal fat Congenital generalized lipodystrophy Generalized lipodystrophy Abnormality of the menstrual cycle Advanced eruption of teeth Angina pectoris Peripheral arterial stenosis Osteolytic defects of the phalanges of the hand Triangular face Dehydration Short clavicles Enlarged thorax Abnormality of pancreas morphology Reduced pancreatic beta cells Irregular carpal bones Bilateral coxa valga Transient neonatal diabetes mellitus Shortening of all middle phalanges of the fingers Atlantoaxial dislocation Decreased hip abduction Hip subluxation Central hypothyroidism Flattened epiphysis Narrow iliac wings Thoracolumbar kyphosis Carpal bone hypoplasia Small epiphyses Abnormality of the metaphysis Abnormality of neuronal migration Abnormality of epiphysis morphology Coxa valga Wormian bones Epiphyseal dysplasia Preauricular pit Spondyloepiphyseal dysplasia Short thorax Thin bony cortex Steatorrhea Hypoplasia of the odontoid process Overweight Irregular vertebral endplates Cone-shaped epiphyses of the phalanges of the hand Multiple epiphyseal dysplasia Abnormality of lipid metabolism Cellulitis Intracerebral periventricular calcifications Rickets Galactosuria Mild proteinuria Hypergalactosemia Hypouricemia Generalized aminoaciduria Microalbuminuria Hyperphosphaturia Ketonuria Protuberant abdomen Poor appetite Renal tubular acidosis Osteomalacia Hypophosphatemia Bowing of the legs Hypercalciuria Impairment of galactose metabolism Preeclampsia Abnormality of the cardiovascular system Abdominal obesity Premature coronary artery atherosclerosis Eruptive xanthomas Increased subcutaneous truncal adipose tissue Abnormality of the face Abnormality of the neck Hypokalemia Calf muscle pseudohypertrophy Loss of facial adipose tissue Prominent veins on trunk Marked muscular hypertrophy Metabolic acidosis Aminoaciduria Hyperuricosuria Galactose intolerance Cranial nerve paralysis Abnormality of coagulation Spontaneous abortion Abnormality of the nail Narrow chest Papule Skeletal muscle atrophy Aplasia of the fingers Adactyly Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Type I transferrin isoform profile Aplasia/Hypoplasia of the nipples Congenital hepatic fibrosis Hypoketotic hypoglycemia Epileptic spasms Bilateral talipes equinovarus Chronic acidosis Sparse and thin eyebrow Muscle weakness Elevated serum creatine phosphokinase Abnormal bleeding Hypsarrhythmia Inflammatory abnormality of the skin Postnatal microcephaly Bradycardia Ventricular fibrillation Sparse eyelashes Severe muscular hypotonia Leukopenia Ventricular tachycardia Sacral dimple Erythroderma Ivory epiphyses of the phalanges of the hand Irregular tarsal ossification Hyperostosis Generalized tonic-clonic seizures Pigmentary retinopathy Specific learning disability Progressive visual loss Otitis media Gastrointestinal hemorrhage Urinary incontinence Vesicoureteral reflux Asthma Retinal dystrophy Nausea Stage 5 chronic kidney disease Retinal degeneration Carious teeth Ophthalmoplegia Cough Type II diabetes mellitus Nyctalopia Scarring Abnormality of the liver Autistic behavior Pallor Respiratory tract infection Deeply set eye Photophobia Autism Polydactyly Abdominal pain Myoclonus Rod-cone dystrophy Recurrent respiratory infections Optic disc pallor Pulmonary arterial hypertension Visual loss Macular degeneration Acne Impaired vibratory sensation Constriction of peripheral visual field Aplasia/Hypoplasia of the cerebellum Obsessive-compulsive behavior Chronic otitis media Nephritis Portal hypertension Precocious puberty Cholelithiasis Abnormality of the hand Goiter Cone/cone-rod dystrophy Tachypnea Accelerated skeletal maturation Recurrent otitis media Abnormality of retinal pigmentation Involuntary movements Recurrent urinary tract infections Left ventricular hypertrophy Thickened skin Chronic diarrhea Anorexia Decreased liver function Absence seizures Hepatic fibrosis Sinusitis Short toe Horizontal nystagmus Hypogonadotrophic hypogonadism Nephrocalcinosis Hyporeflexia Encephalopathy Ivory epiphyses of the toes Gingival overgrowth Episodic fever Polycythemia Scleroderma Elevated erythrocyte sedimentation rate Increased antibody level in blood Hallux valgus Leukocytosis Stridor Psoriasiform dermatitis Sleep apnea Azoospermia Plagiocephaly Osteolysis Elbow flexion contracture Telangiectasia Abnormal eyebrow morphology Abnormality of the foot Flexion contracture Hyperreflexia Wide nasal bridge Micropenis Camptodactyly Abnormal cardiac septum morphology Cleft upper lip Bronchiectasis Flat face Polyneuropathy Wide intermamillary distance Bilateral sensorineural hearing impairment Epistaxis Hypertrichosis Enlarged kidney Aspiration pneumonia Depressivity Episcleritis Dystonia Behavioral abnormality Blindness Respiratory distress Optic atrophy Peripheral neuropathy Visual impairment Ataxia Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Stiff skin Snoring Panniculitis Varicose veins Reticulocytopenia Communicating hydrocephalus Decreased serum testosterone level Recurrent pharyngitis Nasal obstruction Skin nodule Histiocytosis Chronic rhinitis Facial telangiectasia Abnormality of cardiovascular system physiology Broad finger Hyperplasia of the maxilla Corneal arcus Generalized lymphadenopathy Myelofibrosis Increased hepatic glycogen content



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