Hepatomegaly, and Camptodactyly of finger

Diseases related with Hepatomegaly and Camptodactyly of finger

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

Top matches:

Muckle-Wells syndrome (MWS) is an intermediate form of cryopyrin-associated periodic syndrome (CAPS; see this term) and is characterized by recurrent fever (with malaise and chills), recurrent urticaria-like skin rash, sensorineural deafness, general signs of inflammation (eye redness, headaches, arthralgia/myalgia) and potentially life-threatening secondary amyloidosis (AA type).

MUCKLE-WELLS SYNDROME Is also known as neutrophilic urticaria

Related symptoms:

  • Short stature
  • Anemia
  • Hepatomegaly
  • Fever
  • Optic atrophy


SOURCES: ORPHANET MENDELIAN

More info about MUCKLE-WELLS SYNDROME

Geleophysic dysplasia is a rare skeletal dysplasia characterized by short stature, prominent abnormalities in hands and feet, and a characteristic facial appearance (described as "happy'').

GELEOPHYSIC DYSPLASIA Is also known as geleophysic dwarfism

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA

Mitochondrial encephalo-cardio-myopathy due to TMEM70 mutation is characterized by early neonatal onset of hypotonia, hypetrophic cardiomyopathy and apneic spells within hours after birth accompanied by lactic acidosis, hyperammonemia and 3-methylglutaconic aciduria.

TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY Is also known as encephalocardiomyopathy, mitochondrial, neonatal, due to atp synthase deficiency|mitochondrial encephalo-cardio-myopathy due to f1fo atpase deficiency|mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex v defici

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Ataxia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about TMEM70-RELATED MITOCHONDRIAL ENCEPHALO-CARDIO-MYOPATHY

Other less relevant matches:

This autosomal recessive systemic autoinflammatory disorder is characterized by early childhood onset of annular erythematous plaques on the face and extremities with subsequent development of partial lipodystrophy and laboratory evidence of immune dysregulation. More variable features include recurrent fever, severe joint contractures, muscle weakness and atrophy, hepatosplenomegaly, basal ganglia calcifications, and microcytic anemia (summary by Agarwal et al., 2010; Kitamura et al., 2011; Arima et al., 2011).This disorder encompasses Nakajo-Nishimura syndrome (NKJO); joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome); and chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome (CANDLE). Among Japanese patients, this disorder is best described as Nakajo-Nishimura syndrome, since both Nakajo (1939) and Nishimura et al. (1950) contributed to the original phenotypic descriptions. Genetic Heterogeneity of Proteasome-Associated Autoinflammatory SyndromeSee also PRAAS2 (OMIM ), caused by mutation in the POMP gene (OMIM ) on chromosome 13q12, and PRAAS3 (OMIM ), caused by mutation in the PSMB4 gene (OMIM ) on chromosome 1q21.

PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1 Is also known as chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome|candle|joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy|autoinflammation, lipodystrophy, and dermatosis syndrome|n

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Failure to thrive
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1; PRAAS1

GM1-Gangliosidosis is an autosomal recessive lysosomal storage disease characterized by accumulation of ganglioside substrates in lysosomes. Clinically, patients show variable degrees of neurodegeneration and skeletal abnormalities. There are 3 main clinical variants categorized by severity and variable residual beta-galactosidase activity. Type I, or infantile form, shows rapid psychomotor deterioration beginning within 6 months of birth, generalized central nervous system involvement, hepatosplenomegaly, facial dysmorphism, macular cherry-red spots, skeletal dysplasia, and early death. Type II, or late-infantile/juvenile form (OMIM ), has onset between 7 months and 3 years, shows generalized central nervous system involvement with psychomotor deterioration, seizures, localized skeletal involvement, and survival into childhood. Hepatosplenomegaly and cherry-red spots are usually not present. Type III, or adult/chronic form (OMIM ), shows onset from 3 to 30 years and is characterized by localized skeletal involvement and localized central nervous system involvement, such as dystonia or gait or speech disturbance. There is an inverse correlation between disease severity and residual enzyme activity (Suzuki et al., 2001).See also Morquio B disease (OMIM ), an allelic disorder with skeletal anomalies and no neurologic involvement.The GM2-gangliosidoses include Tay-Sachs disease (OMIM ) and Sandhoff disease (OMIM ).

GM1-GANGLIOSIDOSIS, TYPE I Is also known as gangliosidosis, generalized gm1, type 1|gangliosidosis, generalized gm1, type i|glb1 deficiency|gangliosidosis, generalized gm1, infantile form|beta-galactosidase-1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1-GANGLIOSIDOSIS, TYPE I

Medium match HENNEKAM SYNDROME

Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

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

Medium 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

Syndromic multisystem autoimmune disease due to Itch deficiency is a rare, genetic, systemic autoimmune disease characterized by failure to thrive, global developmental delay, distictive craniofacial dysmorphism (relative macrocephaly, dolichocephaly, frontal bossing, orbital proptosis, flattened midface with a prominent occiput, low, posteriorly rotated ears, micrognatia), hepato- and/or splenomegaly, and multisystemic autoimmune disease involving the lungs, liver, gut and/or thyroid gland.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC MULTISYSTEM AUTOIMMUNE DISEASE DUE TO ITCH DEFICIENCY

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Camptodactyly of finger

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Hepatosplenomegaly Abnormal facial shape Growth delay Flexion contracture Intellectual disability Cardiomegaly Failure to thrive Hearing impairment Anteverted nares Respiratory insufficiency Long philtrum Generalized hypotonia Proptosis Scoliosis Inguinal hernia Arthralgia Retrognathia Camptodactyly Abnormality of the kidney Intellectual disability, mild Elbow flexion contracture Wide nasal bridge Low-set ears Severe short stature Full cheeks Hypothyroidism Short foot Atrial septal defect Flat face Diarrhea Lymphadenopathy Edema Ventricular septal defect Sensorineural hearing impairment Dysostosis multiplex Umbilical hernia Hypertrichosis Recurrent respiratory infections Short neck Frontal bossing Malabsorption Depressed nasal bridge Muscular hypotonia Cryptorchidism Cardiomyopathy Macroglossia Gingival overgrowth Conductive hearing impairment Joint stiffness Talipes equinovarus Fever Optic atrophy Macrocephaly Glaucoma Posteriorly rotated ears Hernia Episcleritis Anemia Elevated erythrocyte sedimentation rate Dilatation Hirsutism Delayed skeletal maturation Osteopenia

Rare Symptoms - Less than 30% cases

Pectus carinatum Wide intermamillary distance Sleep apnea Stiff skin Clinodactyly Panniculitis Microcytic anemia Diabetes mellitus Increased antibody level in blood Lipodystrophy Hyperkeratosis Lymphopenia Hypertriglyceridemia Hyperpigmentation of the skin Cleft upper lip Type I diabetes mellitus Communicating hydrocephalus Nasal obstruction Macrotia Recurrent infections Dolichocephaly Asthma Craniosynostosis Skeletal muscle atrophy Narrow chest Muscle weakness Limitation of joint mobility Synophrys Syndactyly Generalized hirsutism Abnormality of the dentition Abnormal intestine morphology Intellectual disability, severe Narrow palate Abnormality of dental morphology Epicanthus Cognitive impairment Polyhydramnios Interphalangeal joint contracture of finger Thickened ribs Abnormal diaphysis morphology Abnormal heart valve morphology Sparse axillary hair Platyspondyly Micrognathia Abnormal form of the vertebral bodies Ventriculomegaly Corneal opacity Coarse facial features Skeletal dysplasia Kyphosis Vesicoureteral reflux Abnormality of the foot Hyperreflexia Apnea Retinopathy Strabismus Encephalitis Hypoplastic iliac wing Skin rash Cerebral cortical atrophy Arrhythmia Intrauterine growth retardation Hernia of the abdominal wall Conjunctivitis Ichthyosis Pectus excavatum Delayed puberty Ataxia Hypertrophic cardiomyopathy Restrictive ventilatory defect Microcephaly Intellectual disability, moderate Short philtrum Toe walking Small hand Tracheal stenosis Wide mouth Short palm Arthritis J-shaped sella turcica Abdominal pain Smooth philtrum Talipes Tremor Upslanted palpebral fissure Thickened skin Aortic valve stenosis Joint contracture of the hand Coxa valga Pes cavus Respiratory failure Varicose veins Myalgia Decreased serum testosterone level Oligohydramnios Aspiration pneumonia Abnormal eyebrow morphology Enlarged kidney Exocrine pancreatic insufficiency Severe sensorineural hearing impairment Episodic fever Scleroderma Lipoatrophy Hallux valgus Leukocytosis Hyperglycemia Polycythemia Abnormality of cardiovascular system physiology Recurrent pharyngitis Snoring Chronic diarrhea Abnormal lung morphology Hepatitis Abnormality of metabolism/homeostasis Autoimmunity Seborrheic keratosis Retroperitoneal fibrosis Upper eyelid edema Bilateral camptodactyly Cervical lymphadenopathy Facial telangiectasia Skin nodule Myelofibrosis Generalized lymphadenopathy Corneal arcus Hyperplasia of the maxilla Broad finger Pancreatic hypoplasia Psoriasiform dermatitis Chronic rhinitis Reticulocytopenia Histiocytosis Stridor Bronchiectasis Azoospermia Deep plantar creases Brachydactyly Ptosis Delayed peripheral myelination Hyperechogenic pancreas Facial capillary hemangioma Nevus flammeus of the forehead Mesomelic/rhizomelic limb shortening Facial hemangioma Ulnar deviation of the wrist Accessory oral frenulum Atrophy of the spinal cord Broad alveolar ridges Nephropathy Abnormal anterior chamber morphology Thick hair Deep palmar crease Abnormality of the pancreas Abnormality of the optic nerve Capillary hemangioma Thoracolumbar scoliosis Severe failure to thrive Severe intrauterine growth retardation Nevus flammeus Underdeveloped supraorbital ridges Prominent metopic ridge Hydrocephalus Patent ductus arteriosus Plagiocephaly Amenorrhea Osteolysis Hypergonadotropic hypogonadism Aspiration Gynecomastia Telangiectasia Primary amenorrhea Blue sclerae Epistaxis Epidermal acanthosis Bilateral sensorineural hearing impairment Mitral valve prolapse Overgrowth Decreased testicular size Abnormal heart morphology Growth hormone deficiency Recurrent fractures Polyneuropathy Hypotrichosis Abnormal cardiac septum morphology Low-set, posteriorly rotated ears Pes planus Dyspnea Micropenis Hypogonadism Pneumonia Alopecia Short chin Constipation Relative macrocephaly Abnormal nerve conduction velocity Urinary glycosaminoglycan excretion Delayed menarche Heparan sulfate excretion in urine Mitral valve calcification Hip subluxation Abnormality of the gingiva Abnormality of the optic disc Aortic valve calcification Abnormality of the radius Corneal crystals Peripheral edema Wide cranial sutures Frontal hirsutism Platybasia Carpal bone hypoplasia Abnormal cornea morphology Myelopathy Shield chest Sagittal craniosynostosis Flared iliac wings Cor pulmonale Dilation of lateral ventricles Sparse pubic hair Broad ribs Hydrocele testis Cervical instability Optic nerve compression Diastasis recti Abnormality of the sella turcica Abnormality of the styloid process of ulna Contractures of the joints of the upper limbs Increased size of nasopharyngeal adenoids Widely patent coronal suture Abnormality of glycosaminoglycan metabolism Abnormality of the lumbar spine Abnormality of the glenoid fossa Abnormality of cranial sutures Anterior scalloping of vertebral bodies Abnormality of femoral epiphysis Abnormal metaphyseal trabeculation Abnormality of the skull base Progressive flexion contractures Posterior scalloping of vertebral bodies Abnormality of lysosomal metabolism Short tubular bones of the hand Small abnormally formed scapulae Abnormality of the breast Dilated third ventricle Exercise-induced muscle stiffness Abnormality of the tonsils Limited shoulder movement Abnormality of mucopolysaccharide metabolism Abnormality of the acetabulum Dermatan sulfate excretion in urine Abnormality of the ulna Spinal cord compression Prominent occiput Genu valgum Abnormality of the ribs Microdontia Progressive visual loss Hip dysplasia Otitis media Sleep disturbance Thick vermilion border Wide nose Retinal degeneration Astigmatism Lower limb muscle weakness Limb muscle weakness Recurrent otitis media Carious teeth Hypermetropia Nyctalopia Abnormal pyramidal sign Kyphoscoliosis Dislocated radial head Headache Gait disturbance Motor delay Visual impairment Interstitial pneumonitis Chronic lung disease Lumbar hyperlordosis Lower limb spasticity Chronic sinusitis Chronic otitis media Obstructive sleep apnea Papilledema Blepharitis Peripheral visual field loss Protuberant abdomen Rhinitis Spinal canal stenosis Hyperactive deep tendon reflexes Arthropathy Exertional dyspnea Multiple joint contractures Heart murmur Back pain Abnormality of retinal pigmentation Coarse hair Easy fatigability Increased intracranial pressure Arnold-Chiari malformation Abnormality of the metacarpal bones Widely spaced teeth Opacification of the corneal stroma Abnormality of dental enamel Knee flexion contracture Congenital hip dislocation Short ribs Abnormal vertebral morphology Ulnar deviation of finger Low anterior hairline Biparietal narrowing Dilated cardiomyopathy Ovoid vertebral bodies Abnormality of epiphysis morphology Mitral stenosis Abnormality of the metaphysis Lack of skin elasticity Depressed nasal ridge Abnormality of the skin Broad nasal tip Abdominal distention Neurodegeneration Abnormality of movement Thickened helices Bundle branch block Hyperlordosis Developmental regression Hypoplasia of the capital femoral epiphysis Wrist flexion contracture Mandibular prognathia Weight loss Dementia Tip-toe gait Dystonia Blindness Tricuspid stenosis Abnormality of the urinary system Right ventricular hypertrophy Irregular capital femoral epiphysis Bilateral talipes equinovarus Midface retrusion Small nail Malar flattening Respiratory distress Aortic regurgitation Bicuspid aortic valve Short long bone Cone-shaped epiphysis Abnormality of ganglioside metabolism Decreased beta-galactosidase activity Cerebral degeneration Abnormality of the scrotum Generalized dystonia Angiokeratoma corporis diffusum Cherry red spot of the macula Rough bone trabeculation Hypoplastic vertebral bodies Vacuolated lymphocytes Exaggerated startle response Psychomotor deterioration High pitched voice Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the retinal vasculature Beaking of vertebral bodies Abnormality of the skeletal system Short metacarpals with rounded proximal ends Narrow mouth Abnormal pulmonary valve morphology Abnormality of the liver Erythema Elevated hepatic transaminase Hyperhidrosis Babinski sign Thrombocytopenia Small for gestational age Lactic acidosis Pain Premature birth Increased serum lactate Gastroparesis Neonatal hypotonia Hyperalaninemia 3-Methylglutaconic aciduria Moderate global developmental delay Abnormal aortic valve morphology Flat occiput Aciduria Hyperammonemia Aplasia/Hypoplasia of the corpus callosum Leukoencephalopathy Microretrognathia Intention tremor Scarring Inability to walk Spasticity Abnormally large globe Nystagmus Cataract Adipose tissue loss Finger swelling Hypertension Erythema nodosum Hypochromic anemia Flexion contracture of toe Generalized lipodystrophy Immune dysregulation Clubbing of fingers Myositis Acidosis Rimmed vacuoles Basal ganglia calcification Hypermelanotic macule Long fingers Cerebellar atrophy Glucose intolerance Hypospadias Growth abnormality Encephalopathy Bone pain Thick lower lip vermilion Prominent nose Hyperactivity Ventricular hypertrophy Broad palm Gastroesophageal reflux Everted lower lip vermilion High, narrow palate Long face Oral cleft Cranial nerve paralysis Abnormal palate morphology Severe global developmental delay Urticaria Abnormality of the voice Cleft lip Muscular hypotonia of the trunk Prominent forehead Nevus Progressive sensorineural hearing impairment Agenesis of corpus callosum Uveitis Abnormality of cardiovascular system morphology Hypoplasia of the corpus callosum Broad foot Myopia Feeding difficulties High palate Cleft palate Abnormality of the nose Tapered finger Vasculitis Pleural lymphangiectasia Joint dislocation Short thorax Supernumerary nipple Overlapping toe Hypoplasia of the brainstem Nephroblastoma Elbow dislocation Trigonocephaly CNS hypomyelination Nephrotic syndrome Hemangioma Sacral dimple Pulmonary arterial hypertension Intestinal malrotation Bradycardia Short toe Decreased body weight Heterotopia Intellectual disability, profound High myopia Congenital diaphragmatic hernia Narrow forehead Dandy-Walker malformation Convex nasal ridge Abnormality of the genital system Neoplasm Pericardial lymphangiectasia Limb undergrowth Hydrops fetalis Pleural effusion Hypoalbuminemia Pyloric stenosis Reduced number of teeth Oligodontia Cutaneous syndactyly Short nose Spina bifida occulta Horseshoe kidney Hypocalcemia Bilateral single transverse palmar creases Lymphedema Ectopic kidney Pachygyria Decreased antibody level in blood Ascites Delayed eruption of teeth Thin upper lip vermilion Finger syndactyly Broad forehead Microtia Respiratory tract infection Hydronephrosis Round face Renal amyloidosis Pericardial effusion Thyroid lymphangiectasia Rectal prolapse Mild postnatal growth retardation Benign neoplasm of the central nervous system Conical incisor Severe hydrops fetalis Pulmonary lymphangiectasia Lymphangioma Erysipelas Intestinal lymphangiectasia Abnormal oral mucosa morphology Primary hypothyroidism Chylothorax Periorbital edema Cutaneous finger syndactyly Protein-losing enteropathy Generalized edema Hypoproteinemia Recurrent aphthous stomatitis Nonimmune hydrops fetalis Arteriovenous malformation Edema of the lower limbs Polysplenia Coronal craniosynostosis External ear malformation Palpebral edema Increased number of teeth Abnormality of the humeral epiphysis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Umbilical hernia, related diseases and genetic alterations Hepatomegaly and Dehydration, related diseases and genetic alterations