Hepatomegaly, and Finger syndactyly

Diseases related with Hepatomegaly and Finger syndactyly

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

Top matches:

Paris-Trousseau thrombocytopenia (TCPT) is a contiguous gene syndrome characterized by mild bleeding tendency, variable thrombocytopenia (THC), dysmorphic facies, abnormal giant alpha-granules in platelets and dysmegakaryopoiesis.

PARIS-TROUSSEAU THROMBOCYTOPENIA Is also known as chromosome 11q23 deletion syndrome

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about PARIS-TROUSSEAU THROMBOCYTOPENIA

Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA 2; CED2

Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

Other less relevant matches:

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

Congenital dyserythropoietic anemiatype I (CDA I) is a hematologic disorder of erythropoiesis characterized by moderate to severe macrocytic anemia occasionally associated with limb or nail deformities and scoliosis.

CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I Is also known as cda type i|cda, type ib|cda type 1|congenital dyserythropoietic anemia type 1|cda i

Related symptoms:

  • Short stature
  • Ptosis
  • Anemia
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: OMIM ORPHANET MENDELIAN

More info about CONGENITAL DYSERYTHROPOIETIC ANEMIA TYPE I

Medium match FANCONI ANEMIA

Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Simpson-Golabi-Behmel syndrome (SGBS, also referred to as SGBS type 1) is a rare X-linked multiple congenital anomalies syndrome, characterized by pre- and postnatal overgrowth, distinctive craniofacial features, variable congenital malformations, organomegaly and an increased tumor risk.

SIMPSON-GOLABI-BEHMEL SYNDROME Is also known as sgbs|sgbs1|simpson-golabi-behmel syndrome type 1|golabi-rosen syndrome|sdys|x-linked dysplasia gigantism syndrome|dysplasia gigantism syndrome, x-linked|simpson dysmorphia syndrome|dgsx|bulldog syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SIMPSON-GOLABI-BEHMEL SYNDROME

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8 Is also known as srps6|short rib-polydactyly syndrome, type vi

Related symptoms:

  • Short stature
  • Failure to thrive
  • Depressed nasal bridge
  • Hepatomegaly
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8

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

Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013). There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).SRTD15 is characterized by narrow thorax, oral and cardiovascular anomalies, short long bones, and postaxial polydactyly, in addition to other congenital anomalies. Considerable variability in features and in severity has been reported, with some affected individuals succumbing shortly after birth and others living to adulthood, even within the same family.For a discussion of genetic heterogeneity of short-rib thoracic dysplasia with or without polydactyly, see SRTD1 (OMIM ).

Related symptoms:

  • Short stature
  • Scoliosis
  • Abnormal facial shape
  • Low-set ears
  • Depressed nasal bridge


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15

Top 5 symptoms//phenotypes associated to Hepatomegaly and Finger syndactyly

Symptoms // Phenotype % cases
Syndactyly Common - Between 50% and 80% cases
Epicanthus Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Abnormality of the skeletal system Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Abnormal facial shape Polyhydramnios Narrow chest Hypertelorism Short ribs Patent ductus arteriosus Polydactyly Respiratory insufficiency Hearing impairment Abnormality of the dentition Scoliosis Wide nasal bridge Brachydactyly Pectus excavatum Intellectual disability Micrognathia Global developmental delay Low-set ears Growth delay Atrial septal defect Abnormality of cardiovascular system morphology Macrocephaly Limb undergrowth Postaxial hand polydactyly Polysplenia Congestive heart failure Neoplasm Cleft lip Clinodactyly of the 5th finger Craniosynostosis Small nail Anemia Postaxial polydactyly Cutaneous syndactyly Cryptorchidism Horseshoe kidney Ventricular septal defect Hepatosplenomegaly Umbilical hernia Hypothyroidism Dolichocephaly Respiratory distress Anteverted nares Renal insufficiency Cleft palate Upslanted palpebral fissure Frontal bossing Clinodactyly High palate Abnormal heart morphology Ptosis Hernia Thrombocytopenia

Rare Symptoms - Less than 30% cases

Vertigo Oral cleft Lymphadenopathy Abnormality of dental morphology Abnormality of the foot Cupped ear Bruising susceptibility Facial asymmetry Toe syndactyly Acute myeloid leukemia Short palm Thoracic dysplasia Telecanthus Hypocalcemia Short toe Omphalocele Pallor Meckel diverticulum Hypotelorism Hypodontia Short foot Arteriovenous malformation Abnormality of the kidney Leukemia Fatigue Recurrent respiratory infections Intrauterine growth retardation Cataract Downslanted palpebral fissures Fever Intellectual disability, severe Edema Myeloid leukemia Hypertension Talipes equinovarus Sensorineural hearing impairment Irritability Short neck Seizures Hydrocephalus Prolonged bleeding time Broad toe Hypospadias Hydronephrosis Weight loss Proptosis Short distal phalanx of finger Camptodactyly of finger High, narrow palate Pancytopenia Abnormality of the genital system Microdontia Primary hypothyroidism Widely spaced teeth Cutis laxa Narrow palpebral fissure Ectopic kidney Hepatic fibrosis Hydrops fetalis Rhizomelia Myelodysplasia Increased number of teeth External ear malformation Ectodermal dysplasia Mesomelia Full cheeks Renal cyst Everted lower lip vermilion Stage 5 chronic kidney disease Smooth philtrum High forehead Retrognathia Webbed neck Sparse hair Nail dysplasia Hydroureter Joint laxity Preaxial polydactyly Chronic kidney disease Failure to thrive Leukopenia Postnatal growth retardation Neurological speech impairment Respiratory failure Midface retrusion Nystagmus Microcephaly Generalized hypotonia Lymphedema Cleft upper lip Horizontal ribs Radial deviation of finger Bone marrow hypocellularity Pyloric stenosis Cutaneous finger syndactyly Erysipelas Inguinal hernia Agenesis of corpus callosum Hydrometrocolpos Cardiomyopathy Coarse facial features Low-set, posteriorly rotated ears Mandibular prognathia Congenital cataract Hypoglycemia Pulmonic stenosis Wide mouth Short nose Thick vermilion border Arrhythmia Broad nasal tip Dental malocclusion Thin vermilion border Wide nose Obesity Macroglossia Bifid uvula Blindness Intestinal malrotation Retinal detachment Hypoplastic anemia Hypoplasia of the epiglottis Abnormality of the uterus Abnormal localization of kidney Abnormal renal morphology Abnormal aortic valve morphology Abnormality of the hypothalamus-pituitary axis Acute monocytic leukemia Abnormality of femur morphology Bicornuate uterus Abnormality of the thumb Abnormality of the testis Aplastic anemia Reticulocytopenia Abnormality of the upper limb B-cell lymphoma Abnormality of the ulna Abnormal eyelid morphology Chromosome breakage Hearing abnormality Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Abnormality of chromosome stability Abnormal aortic morphology Muscular hypotonia Almond-shaped palpebral fissure Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Compensated hypothyroidism Abnormality of nervous system morphology Absent testis Chromosomal breakage induced by crosslinking agents Decreased fertility in males Clubbing of toes Partial duplication of thumb phalanx Complete duplication of thumb phalanx Aplasia/Hypoplasia of the iris Low-grade fever Duplicated collecting system Duodenal stenosis Dandy-Walker malformation Short clavicles Overgrowth Ambiguous genitalia Scarring Visual loss Recurrent infections Immunodeficiency Cerebellar atrophy Acetabular spurs Pancreatic fibrosis Lateral clavicle hook Femoral bowing Short long bone Pulmonary hypoplasia Cirrhosis Two carpal ossification centers present at birth Cyst of the ductus choledochus Cleft lower lip Submucous cleft lip Six lumbar vertebrae Duplication of renal pelvis Penoscrotal transposition Birth length greater than 97th percentile Nephroblastomatosis Broad secondary alveolar ridge Narrow sacroiliac notch Nausea and vomiting Hemolytic anemia Posterior helix pit Macronodular cirrhosis Spinal canal stenosis Median cleft lip Hamartoma Vaginal atresia Metaphyseal dysplasia Atrioventricular canal defect Cone-shaped epiphysis Complete atrioventricular canal defect Coarctation of aorta Skeletal dysplasia Abnormal neutrophil count Granulocytopenia Hematuria Myeloproliferative disorder Abnormality of the optic nerve Verrucae Hypercoagulability Acute leukemia Cellulitis Leukocytosis Chronic otitis media Intracranial hemorrhage Migraine Tapered finger 2-3 finger syndactyly Short sacroiliac notch Hypoplasia of penis Congenital hip dislocation Bundle branch block Bilateral talipes equinovarus Large for gestational age Preauricular pit Nephroblastoma Abnormality of the voice Abnormality of the hand Relative macrocephaly Accelerated skeletal maturation Multicystic kidney dysplasia Cardiac arrest Prolonged QT interval Hoarse voice Preauricular skin tag Bilateral postaxial polydactyly Cerebral visual impairment Tall stature Renal dysplasia Broad thumb Clumsiness Cerebellar vermis hypoplasia Abnormality of the ribs Congenital diaphragmatic hernia Supernumerary nipple Vertebral fusion Short 2nd finger Abnormality of the helix Penoscrotal hypospadias Embryonal neoplasm Hepatoblastoma Cervical ribs Pancreatic islet-cell hyperplasia Chordee Increased IgE level Ankyloglossia Ureteral duplication Aplasia/Hypoplasia of the abdominal wall musculature Flared iliac wings Furrowed tongue Abnormality of digit Renal neoplasm Duodenal atresia Diastasis recti Low hanging columella Broad foot Enlarged kidney Accessory oral frenulum Abnormal lung lobation Neuroblastoma Transposition of the great arteries Broad palm Vertebral segmentation defect Strabismus Multiple cafe-au-lait spots Hepatic cysts Incisional hernia Renal magnesium wasting Tubulointerstitial abnormality Short nail Interstitial pneumonitis Thin nail Flattened epiphysis Abnormality of the abdominal wall Abnormal diaphysis morphology Sagittal craniosynostosis Malformation of the hepatic ductal plate Slow-growing hair Abnormal toenail morphology Elevated serum creatinine Anodontia Tubulointerstitial nephritis Taurodontia Scaphocephaly Protuberant abdomen Fibular hypoplasia Broad distal phalanges of all fingers Cognitive impairment High hypermetropia Short philtrum Vesicoureteral reflux Ascites Delayed eruption of teeth Small hand Hirsutism Flat face Malabsorption Broad forehead Microtia Respiratory tract infection Diarrhea Camptodactyly Intellectual disability, moderate Conductive hearing impairment Narrow mouth Glaucoma Hyperactivity Delayed skeletal maturation Dilatation Malar flattening Intellectual disability, mild Short humerus Prominent occiput Pachygyria Cholestasis High anterior hairline Cystic hygroma Nephronophthisis Sparse eyebrow Patent foramen ovale Plagiocephaly Sparse eyelashes Hyperbilirubinemia Left ventricular hypertrophy Narrow forehead Cholangitis Blepharophimosis Abnormality of the pinna Proteinuria Elevated hepatic transaminase Acidosis Rod-cone dystrophy Megakaryocyte dysplasia Trigonocephaly Abnormality of the cardiovascular system Long philtrum Biliary cirrhosis Broad philtrum Short thorax Nephropathy Thoracic hypoplasia Redundant skin Bicuspid aortic valve Abnormality of the fingernails Abnormality of dental enamel Hypoplasia of dental enamel Abnormality of the metaphysis Fine hair Single transverse palmar crease Retinal dystrophy Cloverleaf skull Hepatic failure Joint hyperflexibility Protruding ear Photophobia Osteoporosis Myopia Fused teeth Metopic synostosis Portal fibrosis Bile duct proliferation Decreased antibody level in blood Gingival overgrowth Absent thumb Anal atresia Oligohydramnios Sloping forehead Tetralogy of Fallot Renal agenesis Lymphoma Hypopigmentation of the skin Neutropenia Abnormality of skin pigmentation Astigmatism Hip dislocation Choanal atresia Small for gestational age Abnormal cardiac septum morphology Abnormality of the liver Abnormality of the eye Hypertrophic cardiomyopathy Carcinoma Pes planus Diabetes mellitus Hypogonadism Short palpebral fissure Aganglionic megacolon Headache Hypopigmented skin patches Squamous cell carcinoma Hypoplasia of the ulna Glucose intolerance Tracheoesophageal fistula Triphalangeal thumb Hyperinsulinemia Abnormality of the urinary system Abnormality of vision Reduced bone mineral density Renal hypoplasia/aplasia Recurrent urinary tract infections Cranial nerve paralysis Azoospermia Type I diabetes mellitus Hypergonadotropic hypogonadism Spina bifida Abnormal vertebral morphology Insulin resistance Short thumb Cafe-au-lait spot Telangiectasia Severe short stature Microphthalmia Lymphopenia Coronal craniosynostosis Rectal prolapse Periorbital edema Protein-losing enteropathy Generalized edema Hypoproteinemia Sparse axillary hair Nonimmune hydrops fetalis Hypoplastic iliac wing Edema of the lower limbs Palpebral edema Abnormal oral mucosa morphology Pericardial effusion Pleural effusion Hypoalbuminemia Reduced number of teeth Oligodontia Abnormal intestine morphology Spina bifida occulta Narrow palate Bilateral single transverse palmar creases Joint contracture of the hand Chylothorax Intestinal lymphangiectasia Ventriculomegaly Reticulocytosis Hyperreflexia Visual impairment Ataxia Erythroid hyperplasia Congenital hypoplastic anemia Increased total bilirubin Poikilocytosis Anemia of inadequate production Anisocytosis Macrocytic anemia Lymphangioma Short phalanx of finger Jaundice Pleural lymphangiectasia Pericardial lymphangiectasia Thyroid lymphangiectasia Mild postnatal growth retardation Benign neoplasm of the central nervous system Conical incisor Severe hydrops fetalis Pulmonary lymphangiectasia Partial atrioventricular canal defect


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