Hepatomegaly, and Upslanted palpebral fissure

Diseases related with Hepatomegaly and Upslanted palpebral fissure

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

Top matches:

The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 4 (CG4, equivalent to CG6 and CGC) have mutations in the PEX6 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Depressed nasal bridge
  • Epicanthus


SOURCES: OMIM MESH MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 4A (ZELLWEGER); PBD4A

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

Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia.

HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA Is also known as hps2|hermansky-pudlak syndrome type 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA

Other less relevant matches:

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

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

Beta-thalassemia (BT) major is a severe early-onset form of BT (see this term) characterized by severe anemia requiring regular red blood cell transfusions.

BETA-THALASSEMIA MAJOR Is also known as cooley anemia|mediterranean anemia

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Cataract
  • Anemia
  • Feeding difficulties


SOURCES: ORPHANET MENDELIAN

More info about BETA-THALASSEMIA MAJOR

The peroxisome biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006).For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see {214100}.Individuals with PBDs of complementation group 2 (CG2) have mutations in the PEX5 gene. For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hypertelorism
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER); PBD2A

Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Top 5 symptoms//phenotypes associated to Hepatomegaly and Upslanted palpebral fissure

Symptoms // Phenotype % cases
Epicanthus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Upslanted palpebral fissure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Elevated hepatic transaminase Hearing impairment Nystagmus Strabismus Low-set ears Micrognathia Generalized hypotonia Long philtrum Depressed nasal bridge Retrognathia Short nose Short stature Cholestasis Dolichocephaly High forehead Polyhydramnios Dilatation Limb undergrowth Pectus excavatum Delayed skeletal maturation Visual impairment Abnormal heart morphology Smooth philtrum Abnormality of the dentition Cataract Talipes equinovarus Malabsorption Failure to thrive Renal cyst Microcephaly Growth delay Cryptorchidism Abnormality of cardiovascular system morphology Hypothyroidism Muscular hypotonia Wide nasal bridge

Rare Symptoms - Less than 30% cases

Hepatic fibrosis Talipes Hypertension High palate Edema Cleft palate Joint contracture of the hand Thickened skin Anal atresia Full cheeks Osteopenia Frontal bossing Ascites Severe short stature Hypospadias Anemia Abnormality of the liver Abdominal distention Congestive heart failure Anteverted nares Brachydactyly Jaundice Hyperbilirubinemia Cystic hygroma Postaxial hand polydactyly Microdontia Widely spaced teeth Craniosynostosis Abnormality of the pinna Joint laxity Intrauterine growth retardation Intellectual disability, severe Acidosis Short neck Single transverse palmar crease Large fontanelles Clitoral hypertrophy Polydactyly Diabetes mellitus Optic atrophy Polysplenia Bile duct proliferation Hydrops fetalis Cardiomyopathy Immunodeficiency Splenomegaly Abnormal facial shape Hypoplasia of penis Feeding difficulties in infancy Calcific stippling Telecanthus Respiratory failure Clinodactyly of the 5th finger Thin upper lip vermilion Thrombocytopenia Neutropenia Pneumonia Fair hair Abnormality of the skeletal system Hepatosplenomegaly Recurrent respiratory infections Recurrent infections Cerebral cortical hemiatrophy Hypoplasia of the small intestine Pancreatic fibrosis Hypoplastic colon Aplasia/Hypoplasia of the macula Skeletal muscle atrophy Abnormality of the cerebellar vermis Macrocephaly Lymphangioma Ventriculomegaly Subcortical cerebral atrophy Extrapulmonary sequestrum Neonatal hypotonia Hypoplasia of the corpus callosum Progressive visual loss Decreased nerve conduction velocity Progressive hearing impairment Aspiration Pachygyria Heterotopia Split hand Peripheral demyelination Gliosis Cerebellar atrophy Hepatic steatosis Polymicrogyria Abnormality of the cerebral white matter Severe global developmental delay Cystic renal dysplasia Visual loss Epiphyseal stippling Oxycephaly Generalized hyperpigmentation Rib fusion Stippled chondral calcification Rigidity Cerebellar hypoplasia Tremor Delayed speech and language development Myopia Spasticity Ataxia Intrahepatic biliary dysgenesis Micromelia Elevated long chain fatty acids Brushfield spots Optic nerve dysplasia Abnormality of the mitochondrion Hypoplasia of the thymus Abnormality of the helix Turricephaly Palpebral edema Generalized neonatal hypotonia Pulmonary hypoplasia Broad neck Multicystic kidney dysplasia Enlarged kidney Protuberant abdomen Aplasia/Hypoplasia of the cerebellum Macular dystrophy Premature graying of hair Redundant skin Hemivertebrae Muscle stiffness Postaxial polydactyly Abnormality of the face Renal dysplasia Omphalocele Depressed nasal ridge Renal hypoplasia Specific learning disability Epicanthus inversus Hypopigmentation of the skin Hammertoe Primary adrenal insufficiency Decreased muscle mass Agenesis of permanent teeth Exocrine pancreatic insufficiency Anal stenosis Facial cleft Hypoplastic nipples Hypopituitarism Anteriorly placed anus Glycosuria Steatorrhea Abnormal hair pattern Hydroureter Dextrocardia Congenital sensorineural hearing impairment Portal hypertension Abnormality of the genitourinary system Oligodontia Severe muscular hypotonia Pointed chin Calvarial skull defect Hypoproteinemia Abnormality of the nail Increased VLDL cholesterol concentration Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Anasarca Septate vagina Absent lacrimal punctum Colonic diverticula Rectovaginal fistula Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Abnormality of the pancreas Hypocalcemia Situs inversus totalis Delayed cranial suture closure Cerebral hypoplasia Fatigue Cognitive impairment Sensorineural hearing impairment Generalized cerebral atrophy/hypoplasia Fetal ascites Renal cortical microcysts Chylous ascites Cerebral dysmyelination Atrial septal defect Enterocolitis Corpus callosum atrophy Undetectable electroretinogram Aspiration pneumonia Adrenal hypoplasia Scaphocephaly Cortical dysplasia Thoracic hypoplasia Ventricular septal defect Alopecia Cafe-au-lait spot Delayed eruption of teeth Sparse scalp hair Convex nasal ridge Growth hormone deficiency Underdeveloped nasal alae Intestinal malrotation Generalized muscle weakness Hypoplasia of the maxilla Downturned corners of mouth Micropenis Hepatic failure Hypotrichosis Dilated cardiomyopathy Small for gestational age Abnormal cardiac septum morphology Postnatal growth retardation Cleft lip Hydronephrosis Metatarsus adductus Interstitial pneumonitis Cubitus valgus Coarse facial features Hernia Midface retrusion Syndactyly Renal insufficiency Intellectual disability, mild Posteriorly rotated ears Reduced visual acuity Short metacarpals with rounded proximal ends Patent ductus arteriosus Irregular capital femoral epiphysis Tricuspid stenosis J-shaped sella turcica Tip-toe gait Wrist flexion contracture Hypoplasia of the capital femoral epiphysis Thickened helices Clinodactyly Motor delay Mitral stenosis Sparse hair Combined immunodeficiency Ectodermal dysplasia Everted lower lip vermilion Stage 5 chronic kidney disease Narrow chest Telangiectasia of the skin Blepharophimosis Biparietal narrowing Inguinal hernia Severe combined immunodeficiency Acute leukemia Proteinuria Abnormality of chromosome stability Abnormality of bone marrow cell morphology Bird-like facies Large beaked nose Rod-cone dystrophy Lack of skin elasticity Ovoid vertebral bodies Narrow forehead Pulmonary fibrosis Camptodactyly of finger Wide mouth Joint stiffness Carious teeth Hip dysplasia Recurrent bacterial infections Albinism Periodontitis Short palm Respiratory insufficiency Ocular albinism Flexion contracture Acetabular dysplasia Aberrant melanosome maturation Intermittent thrombocytopenia Congenital neutropenia Respiratory tract infection Small hand Dysostosis multiplex Bicuspid aortic valve Tracheal stenosis Right ventricular hypertrophy High pitched voice Bilateral talipes equinovarus Toe walking Cone-shaped epiphysis Short long bone Aortic regurgitation Short foot Coxa valga Aortic valve stenosis Small nail Ventricular hypertrophy Cardiomegaly Photophobia Round face Conductive hearing impairment Leukocytosis Psoriasiform dermatitis Polycystic kidney dysplasia Pulmonary arterial hypertension Hypoparathyroidism Microcytic anemia Adrenal insufficiency Abnormality of the thorax Cholelithiasis Venous thrombosis Skin ulcer Cirrhosis Abnormality of the skull Paresthesia Genu valgum Delayed puberty Nyctalopia Pallor Anxiety Erythema Increased serum ferritin Cardiorespiratory arrest Skeletal dysplasia Apnea Poor suck Intellectual disability, progressive Opacification of the corneal stroma Aminoaciduria Granulocytopenia Pigmentary retinopathy Developmental regression Camptodactyly Neoplasm of the liver Areflexia Brachycephaly Abnormality of the nervous system Malar prominence Monochromacy Hypersplenism Abnormal hemoglobin Abnormality of the hypothalamus-pituitary axis Arthralgia Dyspnea Left ventricular hypertrophy Cutis laxa Nephronophthisis Mesomelia Sparse eyebrow Preaxial polydactyly Patent foramen ovale Chronic kidney disease Cutaneous photosensitivity Plagiocephaly Cutaneous finger syndactyly Sparse eyelashes Narrow palpebral fissure Telangiectasia Short ribs Low anterior hairline Myelodysplasia Rhizomelia Type II diabetes mellitus Pancytopenia Leukemia Lymphoma Osteoporosis Arrhythmia Depressivity Lymphadenopathy Fever Feeding difficulties Thin vermilion border Muscle weakness High anterior hairline Fused teeth Metopic synostosis Horizontal ribs Portal fibrosis Cloverleaf skull Broad philtrum Cholangitis Biliary cirrhosis Midline skin dimples over anterior/posterior fontanelles


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Genu valgum, related diseases and genetic alterations Microphthalmia and Epileptic encephalopathy, related diseases and genetic alterations Abnormality of the skeletal system and Platyspondyly, related diseases and genetic alterations Ptosis and Progressive cerebellar ataxia, related diseases and genetic alterations Flexion contracture and Headache, related diseases and genetic alterations Hearing impairment and Corneal opacity, related diseases and genetic alterations