Hepatomegaly, and Abnormality of the ribs

Diseases related with Hepatomegaly and Abnormality of the ribs

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

Top matches:

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

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

Spondyloepimetaphyseal dysplasia congenita, Shohat type is characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE Is also known as semd, shohat type

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SHOHAT TYPE

Other less relevant matches:

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 ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hepatomegaly
  • Brachydactyly
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 10 WITH OR WITHOUT POLYDACTYLY; SRTD10

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

The Sanfilippo syndrome, or mucopolysaccharidosis III, is an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate (Esposito et al., 2000). The disorder is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life. Type A has been reported (van de Kamp et al., 1981) to be the most severe, with earlier onset and rapid progression of symptoms and shorter survival. Genetic Heterogeneity of Mucopolysaccharidosis Type IIIMPS III includes 4 types, each due to the deficiency of a different enzyme: heparan N-sulfatase (type A); alpha-N-acetylglucosaminidase (type B; {252920}); acetyl CoA:alpha-glucosaminide acetyltransferase (type C; {252930}); and N-acetylglucosamine 6-sulfatase (type D; {252940}).

MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A Is also known as mps iiia|sulfamidase deficiency|sanfilippo syndrome a|heparan sulfate sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIA; MPS3A

The mucopolysaccharidoses are a family of lysosomal storage diseases caused by deficiencies of enzymes required for the catabolism of glycosaminoglycans. The defects result in accumulation of excessive intralysosomal glycosoaminoglycans (mucopolysaccharides) in various tissues, causing distended lysosomes to accumulate in the cell and interfere with cell function. Multiple types have been described (Mok et al., 2003).

MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D Is also known as sanfilippo syndrome d|mps iiid|n-acetylglucosamine-6-sulfatase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Low-set ears


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D

Sanfilippo syndrome B is an autosomal recessive lysosomal storage disorder characterized by the accumulation of heparan sulfate. Clinically, patients have progressive neurodegeneration, behavioral problems, mild skeletal changes, and shortened life span. The clinical severity ranges from mild to severe (Chinen et al., 2005).For a phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, or mucopolysaccharidosis III, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B Is also known as sanfilippo syndrome b|mps iiib|n-acetyl-alpha-d-glucosaminidase deficiency|naglu deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIB; MPS3B

Sanfilippo syndrome comprises several forms of lysosomal storage diseases due to impaired degradation of heparan sulfate. The deficient enzyme in Sanfilippo syndrome C, or MPS IIIC, is an acetyltransferase that catalyzes the conversion of alpha-glucosaminide residues to N-acetylglucosaminide in the presence of acetyl-CoA.For a general phenotypic description and a discussion of genetic heterogeneity of Sanfilippo syndrome, see MPS IIIA (OMIM ).

MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C Is also known as sanfilippo syndrome c|mps iiic|acetyl-coa:alpha-glucosaminide n-acetyltransferase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IIIC; MPS3C

Severe combined immunodeficiency (SCID) due to adenosine deaminase (ADA) deficiency is a form of SCID characterized by profound lymphopenia and very low immunoglobulin levels of all isotypes resulting in severe and recurrent opportunistic infections.

SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY Is also known as ada deficiency|ada-scid|scid due to adenosine deaminase deficiency|scid due to ada deficiency|scid due to ada deficiency, early-onset

Related symptoms:

  • Global developmental delay
  • Failure to thrive
  • Hypertension
  • Hepatomegaly
  • Abnormality of the skeletal system


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SEVERE COMBINED IMMUNODEFICIENCY DUE TO ADENOSINE DEAMINASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Hepatomegaly and Abnormality of the ribs

Symptoms // Phenotype % cases
Splenomegaly Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Recurrent upper respiratory tract infections Uncommon - Between 30% and 50% cases
Diarrhea Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability Hearing impairment Global developmental delay Short ribs Dysostosis multiplex Sleep disturbance Asymmetric septal hypertrophy Hirsutism Synophrys Joint stiffness Seizures Coarse facial features Heparan sulfate excretion in urine Coarse hair Thickened ribs Ovoid thoracolumbar vertebrae Hyperactivity Behavioral abnormality Hepatosplenomegaly Dense calvaria Low-set ears Failure to thrive Growth abnormality Thoracic dysplasia Postaxial polydactyly Oral cleft Cleft lip Brachydactyly Polydactyly Respiratory insufficiency

Rare Symptoms - Less than 30% cases

Limb ataxia Retinal degeneration Limb undergrowth Thoracic hypoplasia Dementia Respiratory tract infection Abnormality of the skeletal system Respiratory distress Chronic diarrhea Cellular metachromasia Postaxial hand polydactyly Restlessness Hypertrichosis Aggressive behavior Cone-shaped epiphysis Dysphagia Ataxia Progressive neurologic deterioration Platyspondyly Bell-shaped thorax Pneumonia Short long bone Micromelia Scoliosis Skeletal dysplasia Wormian bones Short neck Lateral clavicle hook Polyhydramnios Narrow chest Macrocephaly Ventricular septal defect Syndactyly Vertebral compression fractures Decrease in T cell count Flexion contracture Dysarthria Frontal bossing Thick lower lip vermilion Anteverted nares Thick eyebrow Absent speech Prominent forehead Difficulty walking Diffuse mesangial sclerosis Pulmonary insufficiency Increased IgE level Wide mouth B lymphocytopenia Aplasia of the thymus Recurrent fungal infections Split hand Cerebral cortical atrophy Reduced red cell adenosine deaminase activity Anti-thyroid peroxidase antibody positivity Corneal opacity Lack of T cell function Severe B lymphocytopenia Abnormality of humoral immunity Absent tonsils Central nervous system degeneration Absence of lymph node germinal center Immunoglobulin IgG2 deficiency Recurrent opportunistic infections Thickened calvaria Cortical sclerosis IgM deficiency Visceromegaly Anterior rib cupping Cellular immunodeficiency Autoimmune hemolytic anemia Progressive hearing impairment Sinusitis Recurrent respiratory infections Severe combined immunodeficiency Autoimmunity Neutropenia Sepsis Asthma Hepatitis Inflammatory abnormality of the skin Recurrent otitis media Lymphopenia Immunodeficiency Recurrent pneumonia Recurrent bacterial infections Purpura Autoimmune thrombocytopenia Leukoencephalopathy Eosinophilia Abnormality of pelvic girdle bone morphology Combined immunodeficiency IgA deficiency Recurrent infections Hypertension Allergy Hypertelorism Malnutrition Peripheral neuropathy Verrucae Tremor Cerebellar atrophy Dysmetria Neurodegeneration Cardiomegaly Protuberant abdomen Recurrent viral infections Motor deterioration Motor delay B-cell lymphoma Hernia Rod-cone dystrophy Kyphoscoliosis Umbilical hernia Recurrent lower respiratory tract infections Dolichocephaly Everted lower lip vermilion Loss of speech Drooling Metaphyseal dysplasia Intellectual disability, severe Coxa vara Joint laxity Hyperlordosis Joint hyperflexibility Thin vermilion border Abdominal distention Round face Lumbar hyperlordosis Abnormality of epiphysis morphology Hoarse voice Genu varum Severe short stature Metaphyseal widening Metaphyseal irregularity Flared metaphysis Short femoral neck Short thorax Disproportionate short stature Delayed epiphyseal ossification Flat acetabular roof Short femur Upper airway obstruction Spondyloepimetaphyseal dysplasia Arthralgia Gait disturbance Vertebral hypoplasia Joint hypermobility Pulmonary hypoplasia Ambiguous genitalia Preaxial polydactyly Femoral bowing Pancreatic fibrosis Acetabular spurs Congestive heart failure Constipation Osteopenia Conductive hearing impairment Small for gestational age Bruising susceptibility Pain Recurrent fractures Blue sclerae Spontaneous abortion Reduced number of teeth Prolonged bleeding time Agenesis of permanent teeth Thin ribs Soft skin Dentinogenesis imperfecta Fractures of the long bones Beaded ribs Abnormality of the abdominal wall Narrow greater sacrosciatic notches Delayed speech and language development Hamartoma Downslanted palpebral fissures Patent ductus arteriosus Cleft upper lip Hypodontia Nail dysplasia Coarctation of aorta Small nail Horseshoe kidney Cutaneous syndactyly Mesomelia Atrioventricular canal defect Increased number of teeth Abnormal facial shape Spinal canal stenosis Short clavicles Median cleft lip Vaginal atresia Complete atrioventricular canal defect Horizontal ribs Accessory oral frenulum Bilateral postaxial polydactyly Hydrometrocolpos Hypoplasia of the epiglottis Partial atrioventricular canal defect Epicanthus Cone-shaped epiphyses of the phalanges of the hand Narrow vertebral interpedicular distance Genu valgum Short iliac bones Fibular overgrowth Central vertebral hypoplasia Abnormal epiphyseal ossification Ventriculomegaly Hydrocephalus Blindness Renal insufficiency Obesity Visual loss Nyctalopia Stage 5 chronic kidney disease Nephronophthisis Hepatic failure Retinal dystrophy Cerebellar vermis hypoplasia Cholestasis Short phalanx of finger Rhizomelia Hepatic fibrosis Oculomotor apraxia Chronic kidney disease Glucose intolerance Visual field defect Absent specific antibody response


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