Hepatomegaly, and Tapered finger

Diseases related with Hepatomegaly and Tapered finger

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

Top matches:

Cronkhite-Canada syndrome (CCS) is a rare gastrointestinal (GI) polyposis syndrome characterized by the association of non-hereditary GI polyposis with the cutaneous triad of alopecia, nail changes and hyperpigmentation.

CRONKHITE-CANADA SYNDROME Is also known as gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome|gastrointestinal polyposis-ectodermal changes syndrome|cronkhite-canada syndrome

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CRONKHITE-CANADA SYNDROME

Deafness - lymphedema - leukemia is a very rare, serious syndromic genetic disorder characterized by primary lymphedema, immunodeficiency, and hematological disorders.

DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME Is also known as emberger syndrome

Related symptoms:

  • Hearing impairment
  • Neoplasm
  • Sensorineural hearing impairment
  • Anemia
  • Epicanthus


SOURCES: OMIM ORPHANET MENDELIAN

More info about DEAFNESS-LYMPHEDEMA-LEUKEMIA SYNDROME

High match OPSISMODYSPLASIA

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

Other less relevant matches:

The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.

CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Muscular hypotonia
  • Cataract


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

Bohring-Opitz syndrome is characterised by intrauterine growth retardation (IUGR), failure to thrive, facial dysmorphism (prominent metopic suture and forehead nevus flammeus, a low frontal and temporal hairline with hirsutism, puffy cheeks, upslanting palpebral fissures, exophthalmos, hypertelorism, cleft lip and palate, retrognathia and low set ears), flexion deformities of the elbows and wrists, camptodactyly, ulnar deviation of the fingers, foot anomalies and severe developmental delay. Less than 20 patients have been described so far. Although the large majority of reported cases occurred sporadically, autosomal recessive inheritance has also been reported.

BOHRING-OPITZ SYNDROME Is also known as c-like syndrome|bos syndrome|bohring syndrome|oberklaid-danks syndrome|opitz trigonocephaly-like syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about BOHRING-OPITZ SYNDROME

Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

Acute infantile liver failure-multisystemic involvement syndrome is a rare, genetic, parenchymal hepatic disease characterized by acute liver failure, that occurs in the first year of life, which manifests with failure to thrive, hypotonia, moderate global developmental delay, seizures, abnormal liver function tests, microcytic anemia and elevated serum lactate. Other associated features include hepatosteatosis and fibrosis, abnormal brain morphology, and renal tubulopathy. Minor illness exacerbates deterioration of liver failure.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACUTE INFANTILE LIVER FAILURE-MULTISYSTEMIC INVOLVEMENT SYNDROME

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

Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.

CLASSIC HOMOCYSTINURIA Is also known as cystathionine beta-synthase deficiency|homocystinuria due to cystathionine beta-synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Cataract
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC HOMOCYSTINURIA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Tapered finger

Symptoms // Phenotype % cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
High palate Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Microcephaly Anemia Muscular hypotonia Edema Failure to thrive Cataract Global developmental delay Hearing impairment Cryptorchidism Syndactyly Growth delay Hypertension Cardiomegaly Sensorineural hearing impairment Elevated hepatic transaminase Respiratory distress Recurrent infections Agenesis of corpus callosum Recurrent respiratory infections Respiratory failure Hernia Ventriculomegaly Feeding difficulties Low-set ears Joint stiffness Polyhydramnios Hypertelorism Atrial septal defect Short stature Neoplasm Muscle weakness Macrocephaly Sparse scalp hair Fatigue Intellectual disability

Rare Symptoms - Less than 30% cases

Short toe Macrotia Severe failure to thrive Flexion contracture Pectus carinatum Dandy-Walker malformation Broad thumb Full cheeks High, narrow palate Cardiomyopathy Large fontanelles Microcytic anemia Short foot Narrow chest Platyspondyly Severe global developmental delay Pectus excavatum Long philtrum Short neck Anteverted nares Frontal bossing Depressed nasal bridge Arachnodactyly Congestive heart failure Upslanted palpebral fissure Proptosis Hepatic steatosis Single transverse palmar crease Wide nasal bridge Pulmonary arterial hypertension Cleft palate Tented upper lip vermilion Tapered toe Abnormality of the optic nerve Narrow palate Elbow flexion contracture Scoliosis Wide intermamillary distance Hepatic failure Arrhythmia Apnea Hydronephrosis Micrognathia Myopia Intrauterine growth retardation High forehead Optic atrophy Prominent forehead Ventricular septal defect Posteriorly rotated ears Hypoplasia of the corpus callosum Kyphosis Long toe Long fingers Leukopenia Lymphadenopathy Thrombocytopenia Aplasia/Hypoplasia of the eyebrow Fever Intracranial hemorrhage Hypoplastic toenails Clubbing of fingers Lymphedema Anorexia Weight loss Toe syndactyly Hypotrichosis Dolichocephaly Hip dislocation Microtia Verrucae Abnormal cardiac septum morphology Short philtrum Hypopigmentation of the skin Sparse hair Protruding ear Postnatal growth retardation Abnormality of the pinna Irritability Hypertrophic cardiomyopathy Thin upper lip vermilion Diarrhea Narrow mouth Thin vermilion border Neuronal loss in central nervous system Hypodontia Abnormality of pelvic girdle bone morphology Anonychia Flared metaphysis Metatarsus adductus Short middle phalanx of finger Rocker bottom foot Absent eyebrow Abnormality of dental morphology Clitoral hypertrophy Sparse eyebrow Pyloric stenosis Abnormality of the urinary system Sparse eyelashes Premature birth Short chin Short ribs Sparse and thin eyebrow Short thumb Hydrops fetalis Short phalanx of finger Pachygyria Small nail Cerebellar vermis hypoplasia Tetralogy of Fallot Cerebellar hypoplasia Micropenis Microphthalmia Abnormal heart morphology Hemangioma Biparietal narrowing Broad palm Short thorax Supernumerary nipple Overlapping toe Hypoplasia of the brainstem Nephroblastoma Elbow dislocation Trigonocephaly CNS hypomyelination Sleep apnea Sacral dimple Ulnar deviation of finger Joint dislocation Low anterior hairline Bradycardia Abdominal pain Decreased body weight Heterotopia Hypertrichosis Interphalangeal joint contracture of finger Intellectual disability, profound High myopia Congenital diaphragmatic hernia Dislocated radial head Prominent metopic ridge Hypospadias Accessory oral frenulum Absent thumb Hydrocephalus Abnormality of the skeletal system Abnormal facial shape Delayed peripheral myelination Hyperechogenic pancreas Facial capillary hemangioma Nevus flammeus of the forehead Mesomelic/rhizomelic limb shortening Facial hemangioma Ulnar deviation of the wrist Atrophy of the spinal cord Underdeveloped supraorbital ridges Deep plantar creases Broad alveolar ridges Abnormal anterior chamber morphology Thick hair Deep palmar crease Abnormality of the pancreas Capillary hemangioma Thoracolumbar scoliosis Alopecia Severe intrauterine growth retardation Nevus flammeus Short finger Abnormality of blood and blood-forming tissues Abnormality of digit Arthrogryposis multiplex congenita Increased antibody level in blood Right bundle branch block Hyperostosis Lipodystrophy Subcutaneous nodule Abnormality of the face Thick lower lip vermilion Prominent nose Macroglossia Pain Skin rash Lipoatrophy Abnormal pyramidal sign Arthralgia Hyperhidrosis Intellectual disability, mild Skeletal muscle atrophy Acute hepatic failure Macrocytic anemia Vomiting Abnormality of the coagulation cascade Delayed gross motor development Lactic acidosis Elevated erythrocyte sedimentation rate Episodic fever Aplasia of the distal phalanx of the hallux Abnormality of retinal pigmentation Subcutaneous hemorrhage Arterial thrombosis Cerebral ischemia Esophageal varix Arteriovenous malformation Pulmonary embolism Disproportionate tall stature Hemiplegia/hemiparesis Ectopia lentis Urticaria Venous thrombosis Amblyopia Erythema nodosum Dental crowding Psychosis Gastrointestinal hemorrhage Recurrent fractures Retinal detachment Genu valgum Glaucoma Osteoporosis Behavioral abnormality Abnormality of the Leydig cells Clubbing of toes Abnormality of the liver Aplasia/hypoplasia of the 1st metatarsal Severe hearing impairment Aplasia/Hypoplasia of the nipples Short upper lip Increased nuchal translucency Wide cranial sutures Arrhinencephaly Congenital microcephaly Aplastic clavicle Small earlobe Bilateral microphthalmos Premature loss of primary teeth Absent nipple Redundant neck skin Aplasia/Hypoplasia of the middle phalanges of the hand Abnormality of the neck Decreased skull ossification Hypoplastic scapulae Hypoplastic labia majora Abnormality of finger Sclerocornea Glossoptosis Inverted nipples Short clavicles Aplasia/Hypoplasia of the thumb Thin ribs Generalized neonatal hypotonia Multiple skeletal anomalies Aplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the hallux Aplasia/Hypoplasia of the proximal phalanx of the hallux Narrow nasal base Aplasia/Hypoplasia of the scapulae Abnormality of dental structure Abnormality of the occipital bone Abnormal parietal bone morphology Abnormal pelvis bone morphology Short proximal phalanx of hallux Shortening of all distal phalanges of the toes Aplasia of the 1st metacarpal Slender long bones with narrow diaphyses Bilateral external ear deformity Hypoplasia of the frontal lobes Absent sternal ossification Broad secondary alveolar ridge Generalized hypotrichosis Abnormality of the scapula Gingival recession Aplasia/Hypoplasia of the clavicles Hypoplastic facial bones Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Renal artery stenosis Renovascular hypertension Narrow forehead Autoimmunity Convex nasal ridge Neurological speech impairment Hypoglycemia Acidosis Cerebellar atrophy Immunodeficiency Elevated serum creatine phosphokinase Visual loss Renal insufficiency Pallor Scarring Leukemia Hyperreflexia Neonatal hypotonia Nausea and vomiting Vertigo Cirrhosis Bruising susceptibility Posterior rib cupping Severe platyspondyly Squared iliac bones Abnormally ossified vertebrae Hypoplastic pubic bone Anterior rib cupping Epicanthus Decreased taste sensation Hypoplastic vertebral bodies Sloping forehead Polycystic kidney dysplasia Ventricular arrhythmia Hyperammonemia Protein-losing enteropathy Knee flexion contracture Multicystic kidney dysplasia Stomach cancer Renal dysplasia Hamartomatous polyposis Oligohydramnios Peripheral edema Gastrointestinal carcinoma Aciduria Coma Metabolic acidosis Patchy alopecia Bulbous nose Polymicrogyria Glossitis Abnormality of the foot Lethargy Dilated cardiomyopathy Feeding difficulties in infancy Vertebral hypoplasia Hypoplastic ischia Cerebral hemorrhage Chronic otitis media Hypotelorism Wide mouth Pancytopenia Respiratory tract infection Skeletal dysplasia Bone marrow hypocellularity Severe short stature Delayed skeletal maturation Short nose Myelodysplasia Leukocytosis Micromelia Brachydactyly Prolonged bleeding time Cellulitis Myeloid leukemia Acute myeloid leukemia Acute leukemia Abnormal neutrophil count Macronodular cirrhosis Erysipelas Granulocytopenia Myeloproliferative disorder Webbed neck Short palm Renal phosphate wasting Short long bone Metaphyseal cupping Flat acetabular roof Delayed epiphyseal ossification Bell-shaped thorax Protuberant abdomen Hypophosphatemia Flat occiput Metaphyseal irregularity Prominent supraorbital ridges Relative macrocephaly Disproportionate short-limb short stature Small hand Recurrent pneumonia Wide anterior fontanel Rhizomelia Abnormality of epiphysis morphology Hemolytic anemia Hematuria Abnormality of the metaphysis Blue sclerae Limb undergrowth Short metacarpal Migraine Overfolded helix Hyperkalemia Intestinal malrotation Neonatal sepsis Intellectual disability, severe Nail dysplasia Talipes equinovarus Hyperpigmentation of the skin Hypocalcemia Strabismus Abnormality of the fingernails Abnormal intestine morphology Cachexia Cor triatriatum Intermittent thrombocytopenia Abnormality of cardiovascular system morphology Monocytosis Erythroid hypoplasia Congenital neutropenia Giant platelets Hypoplasia of the thymus Prominent superficial veins Varicose veins Premature loss of teeth Abnormality of lipid metabolism Iron deficiency anemia Hypokalemia Dilatation Inguinal hernia Failure to thrive in infancy Talipes Limitation of joint mobility Vesicoureteral reflux Nevus Hypercoagulability Everted lower lip vermilion Nail dystrophy Hirsutism Long face Oral cleft Cleft upper lip Synophrys Abnormality of skin pigmentation Malabsorption Camptodactyly of finger Retinopathy Abnormality of the kidney Camptodactyly Cleft lip Muscular hypotonia of the trunk Retrognathia Gastroesophageal reflux Paresthesia Cerebral cortical atrophy Unilateral renal agenesis Hypoalbuminemia Enlarged kidney Increased muscle lipid content Long-chain dicarboxylic aciduria Elevated serum long-chain fatty acids Decreased plasma total carnitine Antenatal intracerebral hemorrhage Intracerebral periventricular calcifications Dystrophic fingernails Decreased plasma free carnitine Hepatic calcification Basal ganglia cysts Elevated long chain fatty acids Nonketotic hypoglycemia Dystrophic toenail Macrovesicular hepatic steatosis Increased total bilirubin Dicarboxylic aciduria Biventricular hypertrophy Abnormality of nervous system morphology Intestinal polyposis Ureteral duplication Cystic renal dysplasia Hypoketotic hypoglycemia Hypothermia Heart block Furrowed tongue Hematochezia Cutis laxa Pulmonic stenosis Plagiocephaly Recurrent bacterial infections Lymphopenia Bronchiectasis Mitral regurgitation Clubbing Renal agenesis Asthma Sepsis Neutropenia Colon cancer Hypomagnesemia Joint laxity Hepatosplenomegaly Pneumonia Patent ductus arteriosus Clinodactyly Sparse body hair Midface retrusion Generalized hyperpigmentation Thromboembolism Xerostomia Abnormality of the vasculature Abnormality of amino acid metabolism


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