Hepatomegaly, and Telecanthus

Diseases related with Hepatomegaly and Telecanthus

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

Top matches:

High match LIG4 SYNDROME

LIG4 syndrome is a hereditary disorder associated with impaired DNA double-strand break repair mechanisms and characterized by microcephaly, unusual facial features, growth and developmental delay, skin anomalies, and pancytopenia, which is associated with combined immunodeficiency (CID).

LIG4 SYNDROME Is also known as dna ligase iv deficiency|ligase 4 syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Growth delay
  • Micrognathia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LIG4 SYNDROME

Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease (PCWH) is a systemic disease characterized by the association of the features of Waardenburg-Shah syndrome (WSS) with neurological features of variable severity.

PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE Is also known as neurologic waardenburg-shah syndrome|waardenburg-shah syndrome, neurologic variant|pcwh|ws4 plus

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PERIPHERAL DEMYELINATING NEUROPATHY-CENTRAL DYSMYELINATING LEUKODYSTROPHY-WAARDENBURG SYNDROME-HIRSCHSPRUNG DISEASE

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

Other less relevant matches:

MPSPS is an autosomal recessive inborn error of metabolism resulting in a multisystem disorder with features of the mucopolysaccharidosis lysosomal storage diseases (see, e.g., {607016}). Patients present in infancy or early childhood with respiratory difficulties, cardiac problems, anemia, dysostosis multiplex, renal involvement, coarse facies, and delayed psychomotor development. Most patients die of cardiorespiratory failure in the first years of life (summary by Kondo et al., 2017).

MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS Is also known as mucopolysaccharidosis-like plus disease

Related symptoms:

  • Global developmental delay
  • Abnormal facial shape
  • Spasticity
  • Anemia
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS-LIKE SYNDROME WITH CONGENITAL HEART DEFECTS AND HEMATOPOIETIC DISORDERS

Linear nevus sebaceous syndrome (LNSS) is characterized by the association of a large sebaceous nevus, usually appearing on the face or on the scalp, with a broad spectrum of abnormalities that may affect every organ system, including the central nervous system (brain neoplasms, hemimegalencephaly and lateral ventricle enlargement).

LINEAR NEVUS SEBACEUS SYNDROME Is also known as linear sebaceous nevus syndrome|jnp|sfm syndrome|solomon syndrome|epidermal nevus syndrome, formerly|sebaceous nevus syndrome, linear|nevus sebaceus of jadassohn|jadassohn nevus phakomatosis|nevus sebaceus syndrome|schimmelpenning syndrome|organoid nevus

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LINEAR NEVUS SEBACEUS SYNDROME

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

Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

High match ACROOSTEOLYSIS

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Telecanthus

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Wide nasal bridge Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Hernia Uncommon - Between 30% and 50% cases
Myopia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Short stature Anteverted nares Short neck Abnormality of the dentition Intellectual disability Dolichocephaly Full cheeks Growth delay Epicanthus Micrognathia High forehead Hearing impairment Muscular hypotonia Macrocephaly Failure to thrive Joint hyperflexibility Prominent occiput Osteopenia Hypertelorism Inguinal hernia Low-set ears Brachydactyly Frontal bossing Coarse facial features Seizures Respiratory tract infection Pectus carinatum Pectus excavatum Thickened skin Patent ductus arteriosus Generalized hypotonia Cataract Abnormality of the skeletal system Long philtrum Ventricular septal defect Dry skin Synophrys Umbilical hernia Arthralgia Abnormality of the nervous system Wide nose Headache Kyphosis Hydrocephalus Downslanted palpebral fissures Osteoporosis Hepatic steatosis Low anterior hairline Scoliosis Coarse hair Thrombocytopenia Abnormality of the fingernails Short toe Abnormal heart morphology Clinodactyly of the 5th finger Congestive heart failure Short distal phalanx of finger Intestinal malrotation Joint laxity Hypertrophic cardiomyopathy Peripheral neuropathy Cutis laxa Iris coloboma Biparietal narrowing Recurrent fractures Ataxia Nystagmus Abnormal facial shape Cleft palate Spasticity Thin vermilion border Hypertension High palate Open bite Sparse hair Skeletal dysplasia Cryptorchidism Recurrent respiratory infections Depressed nasal bridge Cardiomyopathy Abnormality of cardiovascular system morphology

Rare Symptoms - Less than 30% cases

Behavioral abnormality Ventriculomegaly Depressivity Neoplasm Abnormality of the cerebral white matter Vomiting Encephalopathy Edema Biconcave vertebral bodies Cardiomegaly Respiratory distress Plagiocephaly Widely spaced teeth Chronic kidney disease Sparse eyebrow Hyperreflexia Optic atrophy Dental malocclusion Atrial septal defect Polycystic kidney dysplasia Prominent forehead Joint hypermobility Abnormality of the kidney Malar flattening Alopecia Thick vermilion border Cerebral calcification Respiratory arrest Blindness Melanocytic nevus Dysphagia Abnormality of the voice Thick eyebrow Downturned corners of mouth Bowing of the long bones Bone pain Aortic valve stenosis Skin ulcer Generalized hirsutism Wormian bones Osteolysis Arnold-Chiari malformation Partial absence of toe Narrow mouth Syringomyelia Hypoplastic 5th lumbar vertebrae Multiple renal cysts Absent frontal sinuses Patellar dislocation Rough bone trabeculation Platybasia Hypoplasia of the zygomatic bone Periodontitis Decreased skull ossification Delayed puberty Hypospadias EEG abnormality Abnormality of dental morphology Abnormality of the eye Ichthyosis Generalized muscle weakness Nevus Coarctation of aorta Pachygyria Aplasia/Hypoplasia of the corpus callosum Hemangioma Abnormality of vision Mitral stenosis Dysarthria Strabismus Neurofibromas Cavernous hemangioma Respiratory failure Feeding difficulties Retinal dystrophy High, narrow palate Fine hair Redundant skin Pain Short ribs Sparse eyelashes Slow-growing hair Hepatic fibrosis Renal insufficiency Everted lower lip vermilion Stage 5 chronic kidney disease Narrow chest Craniosynostosis Abnormality of the pinna Proteinuria Elevated hepatic transaminase Polyhydramnios Acidosis Clinodactyly Upslanted palpebral fissure Syndactyly Intellectual disability, severe Ectodermal dysplasia Arrhythmia Areflexia Constipation Hepatosplenomegaly Abnormal pyramidal sign Hypopigmentation of the skin Coma Tetraplegia Leukodystrophy Recurrent infections Delayed speech and language development Microcephaly Renal cyst Motor delay Microdontia Rhizomelia Narrow forehead Left ventricular hypertrophy Erythema Leukemia Limb undergrowth Feeding difficulties in infancy Scarring Irritability Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reye syndrome-like episodes Paresthesia Reduced protein C activity Elevated plasma acylcarnitine levels Ketotic hypoglycemia Increased muscle lipid content Glutaric acidemia Arthralgia of the hip Gastrointestinal inflammation Heterotopia Abnormal cardiac septum morphology Renal dysplasia Immunodeficiency Abnormality of the genital system Low-set, posteriorly rotated ears Cerebral atrophy Aggressive behavior Hydronephrosis Macrotia Gastroesophageal reflux Proptosis Autism Hyperkeratosis Cerebral cortical atrophy Hyperhidrosis Posteriorly rotated ears Delayed skeletal maturation Short nose Hematuria Hypertonia Ptosis Osteolytic defects of the phalanges of the toes Basilar invagination Premature loss of permanent teeth Basilar impression Flank pain Osteolytic defects of the phalanges of the hand Delayed cranial suture closure Narcolepsy Tetraparesis Glomerulonephritis Renal cortical cysts Cataplexy Spastic tetraparesis Ketonuria Cardiorespiratory arrest Progressive proximal muscle weakness Pancreatitis Ketosis Myoglobinuria Drowsiness Fatigable weakness Acute kidney injury Rhabdomyolysis Glycosuria Hyperammonemia Chronic fatigue Difficulty climbing stairs Restrictive ventilatory defect Ventricular fibrillation Stridor Ragged-red muscle fibers Mutism Poor head control Easy fatigability Hemiplegia Slurred speech Back pain Brachycephaly Excessive daytime somnolence Organic aciduria Limb tremor Cardiac arrest Anorexia Impaired mastication Nonketotic hypoglycemia Wide anterior fontanel Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Decreased liver function Oliguria Clonus Pruritus Hypoketotic hypoglycemia Type I diabetes mellitus Generalized aminoaciduria Exercise intolerance Scapular winging Acute pancreatitis Loss of ability to walk Abnormal corpus callosum morphology Abnormality of the renal tubule Episodic vomiting Proximal tubulopathy Medulloblastoma Exercise-induced myalgia Neurological speech impairment Falls Nail dystrophy Abnormality of the gastrointestinal tract Abnormal mitral valve morphology Gastrointestinal dysmotility Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Thick upper lip vermilion Woolly hair Short attention span Abnormality of the ulna Subvalvular aortic stenosis Premature skin wrinkling Absent eyelashes Enlarged kidney Arnold-Chiari type I malformation Abnormal eyelash morphology Alopecia of scalp Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Curly hair Thickened helices Abnormal aortic valve morphology Abnormal heart valve morphology Laryngeal cleft Multiple plantar creases Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Puberty and gonadal disorders Abnormal location of ears Abnormality of the hairline Hyperkeratosis pilaris Tongue thrusting Functional abnormality of the gastrointestinal tract Generalized ichthyosis Hyperextensibility of the finger joints Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Multiple lentigines Abnormality of hair texture Excessive wrinkled skin Abnormality of the pulmonary artery Multiple cafe-au-lait spots Long palpebral fissure Hypermetropia Vesicoureteral reflux Lymphedema Cafe-au-lait spot Decreased body weight Open mouth Inflammatory abnormality of the skin Hemiparesis Myocardial infarction Low posterior hairline Abnormality of the cardiovascular system Progressive visual loss Growth hormone deficiency Webbed neck Premature birth Abnormal bleeding Cerebral visual impairment Abdominal distention Palmoplantar keratoderma Sleep disturbance Bruising susceptibility Bulbous nose Waddling gait Long face Abnormality of skin pigmentation Peripheral axonal neuropathy Astigmatism Genu valgum Pulmonic stenosis Hypotrichosis Hyperpigmentation of the skin Aspiration Abnormality of the sternum Scaling skin Infantile spasms Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Hydroureter Malnutrition Large for gestational age Absent eyebrow Obsessive-compulsive behavior Heart murmur Chronic otitis media Cubitus valgus Ectropion Pleural effusion Bilateral ptosis Abnormality of the nail Failure to thrive in infancy Brittle hair Deep philtrum Hyperextensible skin Poor suck Relative macrocephaly Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Abnormality of the genitourinary system Sleep apnea Abnormal palate morphology Oculomotor apraxia Narrow palate Hypothyroidism Myalgia Aciduria Spotty hyperpigmentation Alacrima Aplasia/Hypoplasia of the cerebellum White eyelashes Rickets Precocious puberty White eyebrow Microcolon Cerebral dysmyelination Reduced tendon reflexes Horseshoe kidney Exotropia Decreased lacrimation Overgrowth Vertebral segmentation defect Dandy-Walker malformation Peripheral hypomyelination Meconium ileus Hypoplasia of the cochlea Neonatal asphyxia Myelin outfoldings Talipes Facial asymmetry Ophthalmoplegia Corneal opacity Attention deficit hyperactivity disorder Coloboma Hypoplasia of the semicircular canal Intestinal pseudo-obstruction Basal cell carcinoma Absent brainstem auditory responses Cranial asymmetry Blue irides Heterochromia iridis White hair Demyelinating peripheral neuropathy Nevus sebaceus Linear nevus sebaceous Odontogenic neoplasm Odontoma Abnormality of toe Nevus sebaceous Epidermal nevus Hemimegalencephaly Abnormality of dental color Ileus Adenoma sebaceum Asymmetric growth White forelock Porencephalic cyst Hypophosphatemic rickets Hyperphosphaturia Hemihypertrophy Abnormality of finger Gangrene Genu recurvatum Dilatation of the cerebral artery Irregular hyperpigmentation Osteomalacia Carcinoma Dysmyelinating leukodystrophy Postnatal growth retardation Broad philtrum Retrognathia Hip dislocation Blepharophimosis Smooth philtrum Flexion contracture Anemia Fused teeth Metopic synostosis Horizontal ribs Portal fibrosis Bile duct proliferation Cloverleaf skull Cholangitis Hirsutism Biliary cirrhosis High anterior hairline Polysplenia Cutaneous finger syndactyly Cystic hygroma Nephronophthisis Mesomelia Postaxial hand polydactyly Preaxial polydactyly Patent foramen ovale Cholestasis Hydrops fetalis Narrow palpebral fissure Abnormality of the foot Polydactyly Kyphoscoliosis Large forehead Agenesis of corpus callosum Long-segment aganglionic megacolon Dilatation Microphthalmia Spasmus nutans Talipes equinovarus Hypoplastic acetabulae Obstructive lung disease J-shaped sella turcica Macrovesicular hepatic steatosis Acetabular dysplasia Flared iliac wings Beaking of vertebral bodies Macroglossia Dysostosis multiplex Tubular atrophy Barrel-shaped chest Focal segmental glomerulosclerosis Glomerulosclerosis Midface retrusion Bone marrow hypocellularity Joint contracture of the hand Long eyelashes Abnormal lung morphology Rod-cone dystrophy Delayed myelination Brain atrophy Photophobia Protruding ear Increased serum lactate Abnormality of the mandible Gait disturbance Tremor Fever Type II diabetes mellitus Cutaneous photosensitivity Telangiectasia Muscle weakness Myelodysplasia Psoriasiform dermatitis Leukocytosis Combined immunodeficiency Telangiectasia of the skin Severe combined immunodeficiency Pancytopenia Acute leukemia Abnormality of chromosome stability Abnormality of bone marrow cell morphology Bird-like facies Large beaked nose Abnormality of the skull Sensorineural hearing impairment Hyporeflexia Pes cavus Myoclonus Hypogonadism Abdominal pain Neonatal hypotonia Fatigue Respiratory insufficiency Prominent nasal bridge Hyperlordosis Gliosis Muscle cramps Metabolic acidosis Pulmonary hypoplasia Lactic acidosis Nausea Limb muscle weakness Nausea and vomiting Congenital cataract Lethargy Dilated cardiomyopathy Abnormality of the liver Hyperbilirubinemia Hypoplasia of penis Proximal muscle weakness Hypoglycemia Difficulty walking Jaundice Dyspnea Weight loss Gait ataxia Elevated serum creatine phosphokinase Malabsorption Lymphadenopathy Diarrhea Lymphoma Myopathy Distal muscle weakness Arthrogryposis multiplex congenita Finger syndactyly Hypocalcemia Protuberant abdomen Fibular hypoplasia Short humerus High hypermetropia Short thorax Thoracic hypoplasia Cupped ear Radial deviation of finger CNS hypomyelination Bicuspid aortic valve Decreased nerve conduction velocity Abnormality of dental enamel Portal hypertension Taurodontia Hypoplasia of dental enamel Omphalocele Abnormality of the metaphysis Intestinal obstruction Hypotelorism Hypodontia Single transverse palmar crease Nephropathy Premature graying of hair Congenital nystagmus Hypopigmentation of hair Hepatic failure Abnormal eyebrow morphology Scaphocephaly Tubulointerstitial nephritis Distal amyotrophy Incisional hernia Distal sensory impairment Underdeveloped nasal alae Peripheral demyelination Spastic tetraplegia Aganglionic megacolon Hypohidrosis Abnormal autonomic nervous system physiology Spastic paraparesis Torticollis Hypopigmented skin patches Malformation of the hepatic ductal plate Broad distal phalanges of all fingers Renal magnesium wasting Anodontia Broad toe Tubulointerstitial abnormality Short nail Interstitial pneumonitis Thin nail Flattened epiphysis Abnormality of the abdominal wall Abnormal diaphysis morphology Hepatic cysts Sagittal craniosynostosis Anosmia Abnormal toenail morphology Elevated serum creatinine Oral aversion


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