Hepatomegaly, and Microcornea

Diseases related with Hepatomegaly and Microcornea

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

Top matches:

High match LATHOSTEROLOSIS

Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Caused by mutations of gene ERCC6.

COCKAYNE SYNDROME TYPE 2 Is also known as cockayne syndrome type ii

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COCKAYNE SYNDROME TYPE 2

Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

Other less relevant matches:

8p11.2 deletion syndrome is a contiguous gene syndrome characterized by the association of congenital spherocytosis, dysmorphic features, growth delay and hypogonadotropic hypogonadism.

8P11.2 DELETION SYNDROME Is also known as del(8)(p11.2)|monosomy 8p11.2

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 8P11.2 DELETION SYNDROME

Mucolipidosis II (MLII) is a slowly progressive lysosomal disorder characterized by growth retardation, skeletal abnormalities, facial dysmorphism, stiff skin, developmental delay and cardiomegaly.

MUCOLIPIDOSIS TYPE II Is also known as i-cell disease|ml ii|mucolipidosis ii|n-acetylglucosamine 1-phosphotransferase deficiency|mucolipidosis type ii alpha/beta|ml ii alpha/beta|icd

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUCOLIPIDOSIS TYPE II

Branchio-oculo-facial syndrome (BOFS) is characterised by low birth weight and growth retardation, bilateral branchial clefts that may be hemangiomatous, sometimes with linear skin lesions behind the ears ('burn-like' lesions), congenital strabismus, obstructed nasolacrimal ducts, a broad nasal bridge with a flattened nasal tip, a protruding upper lip with an unusually broad and prominent philtrum, and full mouth.

BRANCHIO-OCULO-FACIAL SYNDROME Is also known as bofs|hemangiomatous branchial clefts-lip pseudocleft syndrome|branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging|bof syndrome|lip pseudocleft-hemangiomatous branchial cyst syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRANCHIO-OCULO-FACIAL SYNDROME

FGFR2-related bent bone dysplasia is a rare, genetic, lethal, primary bone dysplasia characterized by dysmorphic craniofacial features (low-set, posteriorly rotated ears, hypertelorism, megalophtalmos, flattened and hypoplastic midface, micrognathia), hypomineralization of the calvarium, craniosynostosis, hypoplastic clavicles and pubis, and bent long bones (particularly involving the femora), caused by germline mutations in the FGFR2 gene. Prematurely erupted fetal teeth, osteopenia, hirsutism, clitoromegaly, gingival hyperplasia, and hepatosplenomegaly with extramedullary hematopoesis may also be associated.

FGFR2-RELATED BENT BONE DYSPLASIA Is also known as perinatal lethal bent bone dysplasia

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Abnormal facial shape
  • Low-set ears
  • Brachydactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about FGFR2-RELATED BENT BONE DYSPLASIA

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).

THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR

Low match MECKEL SYNDROME

Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.

MECKEL SYNDROME Is also known as meckel-gruber syndrome

Related symptoms:

  • Microcephaly
  • Hypertelorism
  • Micrognathia
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about MECKEL SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Microcornea

Symptoms // Phenotype % cases
Micrognathia Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cataract

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge

Common Symptoms - More than 50% cases

Cryptorchidism

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Growth delay

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Failure to thrive Intrauterine growth retardation Strabismus Talipes equinovarus Cleft palate Clinodactyly of the 5th finger Conductive hearing impairment Hepatosplenomegaly Abnormality of the skeletal system Ptosis Atrial septal defect Abnormal facial shape Anteverted nares Nystagmus High palate Hypertension Sensorineural hearing impairment Severe short stature Craniosynostosis Gingival overgrowth Megalocornea Opacification of the corneal stroma Tetralogy of Fallot Microphthalmia Kyphosis Splenomegaly Hip dislocation Intellectual disability, severe Optic atrophy Abnormality of the kidney Pneumonia Multicystic kidney dysplasia Postnatal growth retardation Thrombocytopenia Ventricular septal defect Low-set ears Myopia Generalized hypotonia Long philtrum Wide nasal bridge Small for gestational age Upslanted palpebral fissure Brachycephaly Malar flattening Abnormality of the pinna Epicanthus

Rare Symptoms - Less than 30% cases

Coarctation of aorta Neoplasm Renal hypoplasia Phocomelia Coarse facial features Vesicoureteral reflux Preaxial hand polydactyly Congestive heart failure Intellectual disability, mild Clinodactyly Delayed skeletal maturation Prominent forehead Triangular face Hypodontia Pulmonic stenosis Corneal dystrophy Proximal placement of thumb Inguinal hernia Heart murmur Pulmonary hypoplasia Short neck Abnormality of the dentition Hypospadias Gastroesophageal reflux Telecanthus Cleft lip Low-set, posteriorly rotated ears Cleft upper lip Single transverse palmar crease Duplication of internal organs Renal cyst Microdontia Low posterior hairline Elbow flexion contracture Abnormality of the outer ear Hemangioma Deep philtrum Pyloric stenosis Malrotation of colon Carpal bone hypoplasia Coronal craniosynostosis Hernia Hypoplasia of the radius Blue sclerae Sepsis Feeding difficulties Iris coloboma Preauricular pit Supernumerary ribs Cardiomyopathy Osteopenia Hirsutism Glaucoma Hypertrophic cardiomyopathy Atypical scarring of skin Severe global developmental delay Abnormal heart morphology Wide intermamillary distance Hydrocephalus Anemia Scoliosis Respiratory tract infection Anophthalmia Thickened calvaria Portal hypertension Talipes Renal insufficiency Prominent nasal bridge Pancreatic cysts Pathologic fracture Dermal atrophy Postaxial hand polydactyly Thin vermilion border Toe syndactyly Pigmentary retinopathy Hepatic failure Thick upper lip vermilion Cholestasis Abnormality of skin pigmentation Intrahepatic cholestasis Hypoplasia of penis Downturned corners of mouth Narrow forehead Flexion contracture Specific learning disability Abnormality of the liver Mandibular prognathia Deeply set eye Downslanted palpebral fissures Postaxial foot polydactyly Ataxia Syndactyly Cerebral atrophy Proteinuria Horseshoe kidney Osteoporosis Polydactyly Sloping forehead Butterfly vertebrae Elevated hepatic transaminase Full cheeks Fever Macrocephaly Congenital hepatic fibrosis Abnormality of the periosteum Delayed speech and language development Ureteral duplication Incomplete ossification of pubis Steep acetabular roof Metopic depression Overfolding of the superior helices Decreased calvarial ossification Hypoplastic pubic bone Hypoplastic ischia Extramedullary hematopoiesis Lethal skeletal dysplasia Decreased skull ossification Vomiting Hyperactivity Hypertonia Situs inversus totalis Astigmatism Micromelia Synophrys Autistic behavior Pallor Encephalocele Camptodactyly Aggressive behavior Hypoglycemia Bowing of the long bones Thin upper lip vermilion Aplasia/Hypoplasia of the corpus callosum Behavioral abnormality Anencephaly Retrognathia Proptosis Autism Narrow mouth Male pseudohermaphroditism Congenital stationary night blindness Sclerocornea Hyperhidrosis Asplenia Furrowed tongue Headache Abnormality of the lower limb Brachydactyly Accessory spleen Hypoplastic fingernail Abnormal chorioretinal morphology Abnormality of the philtrum Urethral atresia Lacrimal duct stenosis Aplasia/Hypoplasia of the tongue Fingernail dysplasia Nasolacrimal duct obstruction Agenesis of cerebellar vermis Bifid nasal tip White forelock Retinal coloboma Polycoria Premature skin wrinkling Bilateral cleft lip Median cleft lip Aplasia cutis congenita Pancreatic fibrosis Hamartoma True hermaphroditism Non-midline cleft lip Premature graying of hair Supernumerary nipple Lobar holoprosencephaly Everted upper lip vermilion Lacrimal duct atresia Abnormally large globe Fusion of middle ear ossicles Aplasia/Hypoplasia of the iris Bell-shaped thorax Short clavicles Natal tooth Bowing of the legs Clitoral hypertrophy Short chin Skeletal dysplasia Midface retrusion Thick eyebrow Ectopic thymus tissue Branchial fistula Supraauricular pit Upper lip pit Postauricular pit Enlarged vestibular aqueduct Short nasal septum Auricular pit Lower lip pit Branchial anomaly Hypoplastic superior helix Small forehead Dermoid cyst Vertigo Sleep disturbance Depressed nasal ridge Edema Meckel diverticulum Focal-onset seizure Decreased antibody level in blood Bilateral radial aplasia Renal malrotation Intermittent thrombocytopenia Edema of the dorsum of hands Intestinal malrotation Leukemia Finger syndactyly Abnormal cardiac septum morphology Agenesis of corpus callosum Cerebellar hypoplasia Motor delay Abnormality of the shoulder Dysplastic tricuspid valve Hypoplastic radial head Abnormality of the umbilicus Aplasia/hypoplasia of the humerus Reduced renal corticomedullary differentiation Otitis media with effusion Projectile vomiting Left-to-right shunt Hypertropia Esophageal stenosis Hypoplastic male external genitalia Curly eyelashes Nevus flammeus of the forehead Ventricular hypertrophy Aplasia/Hypoplasia of the ulna Gastroparesis Absent radius Fused cervical vertebrae Seborrheic dermatitis Patellar aplasia Cavum septum pellucidum Allergy Delayed CNS myelination Aplastic anemia Duodenal atresia Chromosome breakage Cardiorespiratory arrest Patellar dislocation Carpal synostosis Nevus flammeus Focal impaired awareness seizure Cervical ribs Intracranial hemorrhage Genu varum Eosinophilia Adducted thumb Coxa valga Spina bifida Short phalanx of finger Left ventricular hypertrophy Broad thumb Fibular aplasia Lateral clavicle hook Generalized tonic-clonic seizures with focal onset Cerebellar vermis hypoplasia Amegakaryocytic thrombocytopenia Tibial torsion High, narrow palate Recurrent urinary tract infections Short metatarsal Incoordination Cow milk allergy Abnormality of the urinary system Abnormality of cardiovascular system morphology Relative macrocephaly Widely spaced teeth Torticollis Spontaneous abortion Increased body weight Low anterior hairline Aspiration Long eyelashes Choanal atresia Clubbing Hypertrichosis Dandy-Walker malformation High myopia Congenital diaphragmatic hernia Otitis media Webbed neck Oligohydramnios Delayed eruption of teeth Aplasia of the uterus Tapered finger Ambiguous genitalia Highly arched eyebrow Small hand Self-injurious behavior Tricuspid regurgitation Edema of the dorsum of feet Aspiration pneumonia Hand oligodactyly Perimembranous ventricular septal defect Lactose intolerance Short sternum Peters anomaly Panhypopituitarism Volvulus Recurrent hypoglycemia Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Tetraphocomelia Esophagitis Hiatus hernia Cutis marmorata Shoulder muscle hypoplasia Poor appetite Ectrodactyly Axial malrotation of the kidney Oligodactyly Hypoplastic nipples Dislocated radial head Weak cry Abnormality of digit Limited elbow extension Opisthotonus Ectopic kidney 2-3 toe syndactyly Short middle phalanx of finger Absent hand Palpebral edema Unilateral renal agenesis Areflexia Malabsorption Pruritus Broad forehead Short philtrum Stroke Retinopathy Scarring Protruding ear Carcinoma Jaundice Macrotia Acidosis Visual loss Anal atresia Dilatation Frontal bossing Cerebellar calcifications Subcortical white matter calcifications Patchy demyelination of subcortical white matter Abnormal peripheral myelination Ivory epiphyses of the phalanges of the hand Square pelvis bone Peripheral dysmyelination Slender nose Severe photosensitivity Increased cellular sensitivity to UV light Delayed puberty Stage 5 chronic kidney disease Loss of facial adipose tissue Pointed chin Prolonged neonatal jaundice Long nose Chorioretinal atrophy Vertebral segmentation defect Malnutrition Hypoplasia of the ulna Glomerulosclerosis Renal hypoplasia/aplasia Hypercholesterolemia Spina bifida occulta Finger clinodactyly Hemivertebrae Abnormal vertebral morphology Cirrhosis Lymphedema Exotropia Renal dysplasia Abnormal form of the vertebral bodies Hypertriglyceridemia Nephrotic syndrome Abnormality of the ribs Gastrointestinal hemorrhage Prominent nose Round face Hypopigmentation of the skin Short distal phalanx of finger Flat face Normal pressure hydrocephalus Decreased lacrimation Keratoconus Myelomeningocele Foam cells with lamellar inclusion bodies Severe generalized osteoporosis Schistocytosis Abnormality of cholesterol metabolism Abnormal platelet morphology Cerebellar cortical atrophy Anisopoikilocytosis Neural tube defect Increased mean platelet volume Ambiguous genitalia, male Generalized osteoporosis Acanthocytosis Meningocele Lumbosacral meningocele Prominent metopic ridge Biparietal narrowing Bilateral talipes equinovarus Elevated alkaline phosphatase Arnold-Chiari malformation Hyperbilirubinemia Cerebral calcification Postaxial polydactyly Bulbous nose Myoclonus Short nose Muscular hypotonia Bilobate gallbladder Abnormality of the thoracic spine Delayed eruption of primary teeth Decreased nerve conduction velocity Abnormal auditory evoked potentials Hypoplasia of teeth Dry hair Hypoplastic pelvis Hypoplastic iliac wing Progeroid facial appearance Severe failure to thrive Hypoplasia of the iris Abnormality of visual evoked potentials Basal ganglia calcification Reduced subcutaneous adipose tissue Anhidrosis Abnormality of the hair Muscle weakness Cutaneous photosensitivity Dental malocclusion Limitation of joint mobility Polyneuropathy Dry skin Carious teeth Congenital cataract Hypermetropia Sparse hair Micropenis Arrhythmia Tremor Spasticity Telangiectasia of the skin Renal tubular acidosis Overfolded helix Radial bowing Abnormality of nervous system morphology Myelopathy Abnormality of the rib cage Flared iliac wings Lack of skin elasticity Ovoid vertebral bodies Dysostosis multiplex Hypoplastic scapulae Recurrent bronchitis Flat acetabular roof Corneal erosion Diastasis recti Severe postnatal growth retardation Cavernous hemangioma Protuberant abdomen Hypoplasia of the odontoid process Abnormal heart valve morphology Vertebral fusion Pericardial effusion Flared metaphysis Abnormality of the thorax Metaphyseal widening Short long bone Aortic regurgitation Generalized hirsutism Congenital hip dislocation Mucopolysacchariduria Broad alveolar ridges Hoarse voice Coloboma Preaxial polydactyly Nasal speech Reduced number of teeth Joint contracture of the hand Short thumb Renal agenesis Broad nasal tip Everted lower lip vermilion Oral cleft Dolichocephaly Neurological speech impairment Microtia Hyperlordosis Large sella turcica Hydronephrosis Posteriorly rotated ears Lower thoracic interpediculate narrowness Beaking of vertebral bodies T12-L3 Varus deformity of humeral neck Progressive alveolar ridge hypertropy Bullet-shaped phalanges of the hand Deficiency of N-acetylglucosamine-1-phosphotransferase Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Urinary glycosaminoglycan excretion Thoracolumbar kyphoscoliosis Atlantoaxial dislocation Recurrent pneumonia Sparse and thin eyebrow Abnormality of the ureter Abnormal anterior chamber morphology Reduced number of intrahepatic bile ducts Rectourethral fistula Unicoronal synostosis Intrahepatic biliary atresia Chronic hepatic failure Multiple small medullary renal cysts Renal artery stenosis Vitamin D deficiency Axenfeld anomaly Papillary thyroid carcinoma Band keratopathy Biliary atresia Arterial stenosis Patent ductus arteriosus Hypopigmentation of the fundus Fat malabsorption Peripheral pulmonary artery stenosis Abnormal pupil morphology Thyroid carcinoma Cholestatic liver disease Peripheral arterial stenosis Pulmonary artery stenosis Abnormality of the vasculature Dilatation of the cerebral artery Hepatocellular carcinoma Exocrine pancreatic insufficiency Posterior embryotoxon Butterfly vertebral arch Hypogonadism Thickened skin Umbilical hernia Thin skin Recurrent otitis media Split hand Cardiomegaly Hip dysplasia Brain atrophy Macroglossia Short palm Retinal degeneration Joint stiffness Joint laxity Neonatal hypotonia High forehead Blepharophimosis Weight loss Recurrent respiratory infections Blindness Spherocytosis Abnormality of the hypothalamus-pituitary axis External ear malformation Anosmia Sacral dimple Azoospermia Hypogonadotrophic hypogonadism Mitral valve prolapse Retinal dystrophy Hemolytic anemia Cystic liver disease


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