Hepatomegaly, and Abnormality of the dentition

Diseases related with Hepatomegaly and Abnormality of the dentition

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


Top matches:

Low match PACHYONYCHIA CONGENITA


Pachyonychia congenita (PC) is a rare genodermatosis predominantly featuring painful palmoplantar keratoderma, thickened nails, cysts and whitish oral mucosa.

PACHYONYCHIA CONGENITA Is also known as pc

Related symptoms:

  • Cataract
  • Cognitive impairment
  • Hepatomegaly
  • Respiratory insufficiency
  • Abnormality of the dentition


SOURCES: ORPHANET OMIM MENDELIAN

More info about PACHYONYCHIA CONGENITA

Low match NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME


Neonatal ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.

NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME Is also known as ihsc|neonatal ichthyosis-sclerosing cholangitis syndrome|ichthyosis-hypotrichosis-sclerosing cholangitis syndrome|ichthyosis-sclerosing cholangitis syndrome|nisch syndrome

Related symptoms:

  • Hepatomegaly
  • Splenomegaly
  • Alopecia
  • Jaundice
  • Scarring


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEONATAL ICHTHYOSIS-SCLEROSING CHOLANGITIS SYNDROME

Low match PANCREATIC INSUFFICIENCY-ANEMIA-HYPEROSTOSIS SYNDROME


This syndrome is characterized by exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis.

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Hepatomegaly
  • Splenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PANCREATIC INSUFFICIENCY-ANEMIA-HYPEROSTOSIS SYNDROME

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Other less relevant matches:

Low match OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16


Osteogenesis imperfecta type XVI (OI16) is characterized by prenatal onset of multiple fractures of ribs and long bones, blue sclerae, decreased ossification of the skull, and severe demineralization. Heterozygous family members may exhibit recurrent fractures with minimal trauma, osteopenia, and blue sclerae (Keller et al., 2018; Lindahl et al., 2018).

OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16 Is also known as oi, type xvi

Related symptoms:

  • Short stature
  • Hearing impairment
  • Hepatomegaly
  • Congestive heart failure
  • Constipation


SOURCES: OMIM MENDELIAN

More info about OSTEOGENESIS IMPERFECTA, TYPE XVI; OI16

Low match HEREDITARY FRUCTOSE INTOLERANCE


Hereditary fructose intolerance (HFI) is an autosomal recessive disorder of fructose metabolism (see this term), resulting from a deficiency of hepatic fructose-1-phosphate aldolase activity and leading to gastrointestinal disorders and postprandial hypoglycemia following fructose ingestion. HFI is a benign condition when treated, but it is life-threatening and potentially fatal if left untreated.

HEREDITARY FRUCTOSE INTOLERANCE Is also known as aldolase b deficiency|hereditary fructose-1-phosphate aldolase deficiency|hereditary fructosemia|fructose-1,6-bisphosphate aldolase b deficiency|fructose-1-phosphate aldolase deficiency|fructosemia|aldob deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Growth delay
  • Failure to thrive
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY FRUCTOSE INTOLERANCE

Low match OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS


Osteopetrosis with renal tubular acidosis is a rare disorder characterized by osteopetrosis (see this term), renal tubular acidosis (RTA), and neurological disorders related to cerebral calcifications.

OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS Is also known as mixed rta|mixed renal tubular acidosis|renal tubular acidosis type 3|rta, bicarbonate-wasting type|rta, dislocation type|guibaud-vainsel syndrome|carbonic anhydrase 2 deficiency|marble brain disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Failure to thrive
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about OSTEOPETROSIS WITH RENAL TUBULAR ACIDOSIS

Low match RETT SYNDROME


Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting the central nervous system.

Related symptoms:

  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MENDELIAN

More info about RETT SYNDROME

Low match HERMANSKY-PUDLAK SYNDROME WITH NEUTROPENIA


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

Low match SHORT-RIB THORACIC DYSPLASIA 15 WITH POLYDACTYLY; SRTD15


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 Abnormality of the dentition

Symptoms // Phenotype % cases
Carious teeth Uncommon - Between 30% and 50% cases
Splenomegaly Uncommon - Between 30% and 50% cases
Hepatosplenomegaly Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Jaundice Hyperbilirubinemia Short stature Global developmental delay Respiratory insufficiency

Rare Symptoms - Less than 30% cases


Ichthyosis Visual impairment Osteopenia Hypokalemia Seizures Hypodontia Malnutrition Anemia Alopecia Thrombocytopenia Recurrent fractures Microcephaly Scaling skin Abnormal facial shape Low-set ears Hamartoma Epicanthus Hearing impairment Skeletal dysplasia Conductive hearing impairment Scoliosis Hemiplegia/hemiparesis Decreased muscle mass Abnormality of the skull Dysphasia Acrocyanosis Cataract Abnormality of the antihelix Narrow foot Thin fingernail Nystagmus Abnormality of the metacarpal bones Strabismus Motor delay Wide nasal bridge Intellectual disability, mild Long philtrum Immunodeficiency Self-injurious behavior EEG abnormality Arnold-Chiari malformation Muscle weakness Nephrolithiasis Abnormality of epiphysis morphology Bone pain Nephrocalcinosis Reduced bone mineral density Rickets Abnormality of dental morphology Osteomalacia Aseptic necrosis Osteopetrosis Abnormality of the renal tubule Periodic paralysis Bicarbonate-wasting renal tubular acidosis Ataxia Spasticity Stereotypy Macrotia Apraxia Tetraplegia Abnormality of movement Arthrogryposis multiplex congenita Joint stiffness Developmental regression Autism Intellectual disability, severe Cerebral cortical atrophy Clinodactyly of the 5th finger Arrhythmia Depressivity Dystonia Behavioral abnormality Recurrent infections Thin upper lip vermilion Pneumonia Mesomelia Narrow chest Oral cleft Cleft upper lip Postaxial polydactyly Nail dysplasia Limb undergrowth Postaxial hand polydactyly Coarctation of aorta Small nail Short ribs Horseshoe kidney Cutaneous syndactyly Cone-shaped epiphysis Atrioventricular canal defect Polyhydramnios Metaphyseal dysplasia Increased number of teeth Spinal canal stenosis Short clavicles Median cleft lip Thoracic dysplasia Vaginal atresia Complete atrioventricular canal defect Horizontal ribs Accessory oral frenulum Bilateral postaxial polydactyly Hydrometrocolpos Hypoplasia of the epiglottis Cleft lip Polydactyly Recurrent respiratory infections Pulmonary fibrosis Posteriorly rotated ears Upslanted palpebral fissure Reduced visual acuity Retrognathia Coarse facial features Dental malocclusion Photophobia Respiratory tract infection Smooth philtrum Neutropenia Hip dysplasia Recurrent bacterial infections Albinism Periodontitis Patent ductus arteriosus Ocular albinism Fair hair Acetabular dysplasia Interstitial pneumonitis Granulocytopenia Congenital neutropenia Intermittent thrombocytopenia Aberrant melanosome maturation Depressed nasal bridge Brachydactyly Macrocephaly Downslanted palpebral fissures Respiratory distress Syndactyly Cerebral calcification Hemophagocytosis Genu valgum Absent hair Erythroderma Sparse body hair Abnormality of blood and blood-forming tissues Parakeratosis Alopecia of scalp Cholangitis Concave nail Thick hair Orthokeratosis Hypotrichosis of the scalp Scarring alopecia of scalp Sclerosing cholangitis Acute hepatitis Oligodontia Delayed skeletal maturation Skin rash Asthma Hyperostosis Abnormality of the coagulation cascade Steatorrhea Rhinitis Exocrine pancreatic insufficiency Anemia of inadequate production Allergic rhinitis Erythroid hyperplasia Calvarial hyperostosis Congestive heart failure Portal hypertension Acanthosis nigricans Small for gestational age Oral leukoplakia Hyperhidrosis Hyperkeratosis Nail dystrophy Palmoplantar keratoderma Abnormal blistering of the skin Abnormality of the hair Abnormality of the nail Abnormality of the fingernails Corneal dystrophy Laryngomalacia Anonychia Natal tooth Thick nail Sparse eyelashes Epidermoid cyst Skin plaque Abnormality of nail color Steatocystoma multiplex Scarring Hypotrichosis Dry skin Hepatitis Epidermal acanthosis Cholestasis Hypoplasia of dental enamel Sparse and thin eyebrow Abnormality of dental enamel Constipation Micromelia Mandibular prognathia Ketosis Coma Gastrointestinal hemorrhage Aciduria Decreased liver function Meningitis Shock Hypophosphatemia Glycosuria Prolonged neonatal jaundice Hyperuricemia Renal tubular acidosis Neonatal hypoglycemia Recurrent hypoglycemia Nephropathy Hyperphosphaturia Proximal tubulopathy Cognitive impairment Hypersomnia Disseminated intravascular coagulation Hypergalactosemia Proximal renal tubular acidosis Hyperuricosuria Fructose intolerance Bicarbonaturia Transient aminoaciduria Peripheral neuropathy Optic atrophy Metabolic acidosis Hepatic steatosis Joint hypermobility Beaded ribs Bruising susceptibility Blue sclerae Wormian bones Spontaneous abortion Reduced number of teeth Prolonged bleeding time Agenesis of permanent teeth Thin ribs Soft skin Vertebral compression fractures Dentinogenesis imperfecta Fractures of the long bones Growth delay Hepatic failure Pain Feeding difficulties Vomiting Abdominal pain Acidosis Hypoglycemia Elevated hepatic transaminase Irritability Abnormality of the liver Lethargy Lactic acidosis Nausea Cirrhosis Partial atrioventricular canal defect



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