Hepatomegaly, and Pectus carinatum

Diseases related with Hepatomegaly and Pectus carinatum

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

Top matches:

Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.

CLASSIC HOMOCYSTINURIA Is also known as cystathionine beta-synthase deficiency|homocystinuria due to cystathionine beta-synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Cataract
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC HOMOCYSTINURIA

Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

Mucopolysaccharidosis type IVA is an autosomal recessive lysosomal storage disease characterized by intracellular accumulation of keratan sulfate and chondroitin-6-sulfate. Key clinical features include short stature, skeletal dysplasia, dental anomalies, and corneal clouding. Intelligence is normal and there is no direct central nervous system (CNS) involvement, although the skeletal changes may result in neurologic complications. There is variable severity, but patients with the severe phenotype usually do not survive past the second or third decade of life (Montano et al., 2008).McKusick (1972) noted that between 1929 and 1959, a miscellany of skeletal disorders was included in the Morquio category, including various types of spondyloepiphyseal dysplasia (see, e.g., {183900}) and multiple epiphyseal dysplasia (see, e.g., {132400}).Nelson et al. (1988) proposed the division of MPS IVA into 3 subgroups: severe classic, intermediate, and mild, reflecting clinical variability observed in 12 enzymatically proven cases. Those who were only mildly affected showed a relatively high residual enzyme activity.

MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A Is also known as galactosamine-6-sulfatase deficiency|mps iva|galns deficiency|morquio a disease|morquio syndrome a

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hepatomegaly
  • Abnormality of the dentition


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE IVA; MPS4A

Other less relevant matches:

Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

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

Shwachman-Diamond syndrome (SDS) is a rare multisystemic syndrome characterized by chronic and usually mild neutropenia, pancreatic exocrine insufficiency associated with steatorrhea and growth failure, skeletal dysplasia with short stature, and an increased risk of bone marrow aplasia or leukemic transformation.

SHWACHMAN-DIAMOND SYNDROME Is also known as pancreatic insufficiency and bone marrow dysfunction|shwachman syndrome|shwachman-bodian syndrome|shwachman-diamond syndrome|shwachman-bodian-diamond syndrome|sds|lipomatosis of pancreas, congenital

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SHWACHMAN-DIAMOND SYNDROME

Mucopolysaccharidosis type 2, attenuated form (MPS2att), the less severe form of MPS2 (see this term), leads to a massive accumulation of glycosaminoglycans and a wide variety of symptoms including distinctive facies, short stature, cardiorespiratory and skeletal findings. It is differentiated from mucopolysaccharidosis type 2, severe form (see this term) by the absence of cognitive decline.

MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM Is also known as iduronate 2-sulfatase deficiency type b|mucopolysaccharidosis type ii, attenuated form|mucopolysaccharidosis type iib|mps2b|mpsiib|hunter syndrome type b|mucopolysaccharidosis type 2b

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Hepatomegaly
  • Wide nasal bridge
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS TYPE 2, ATTENUATED FORM

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUTROPENIA, SEVERE CONGENITAL, 4, AUTOSOMAL RECESSIVE; SCN4

GPIBD18 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. More variable features may include abnormalities of the hands and feet, inguinal hernia, and feeding difficulties. The disorder is part of a group of similar neurologic disorders resulting from biochemical defects in the glycosylphosphatidylinositol (GPI) biosynthetic pathway (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18

Mucopolysaccharidosis type VII is an autosomal recessive lysosomal storage disease characterized by the inability to degrade glucuronic acid-containing glycosaminoglycans. The phenotype is highly variable, ranging from severe lethal hydrops fetalis to mild forms with survival into adulthood. Most patients with the intermediate phenotype show hepatomegaly, skeletal anomalies, coarse facies, and variable degrees of mental impairment (Shipley et al., 1993). MPS VII was the first autosomal mucopolysaccharidosis for which chromosomal assignment was achieved.

MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7 Is also known as beta-glucuronidase deficiency|mps vii|sly syndrome|gusb deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE VII; MPS7

Top 5 symptoms//phenotypes associated to Hepatomegaly and Pectus carinatum

Symptoms // Phenotype % cases
Coarse facial features Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Inguinal hernia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Skeletal dysplasia Splenomegaly Short stature Kyphosis Hernia Hearing impairment Hepatosplenomegaly Abnormal facial shape Flexion contracture Wide nasal bridge Mandibular prognathia Generalized hypotonia Seizures Genu valgum Respiratory distress Umbilical hernia Ascites Recurrent respiratory infections Corneal opacity Cardiomyopathy Abnormal heart valve morphology Widely spaced teeth Dysostosis multiplex Macroglossia Anemia Gingival overgrowth Recurrent infections Short neck Abnormality of the skeletal system Carious teeth Sensorineural hearing impairment Intellectual disability, mild Failure to thrive Thrombocytopenia Beaking of vertebral bodies Hirsutism Respiratory tract infection

Rare Symptoms - Less than 30% cases

Muscle weakness Hypoplasia of the odontoid process Prominent sternum Ovoid vertebral bodies Blindness Spondyloepiphyseal dysplasia Dyspnea Nystagmus Ataxia Metaphyseal widening Visual impairment Osteopenia Hyperreflexia Barrel-shaped chest Proteinuria Gait disturbance Single transverse palmar crease Clinodactyly Cryptorchidism Dermatan sulfate excretion in urine Heparan sulfate excretion in urine Thoracolumbar kyphosis Multiple joint contractures Postnatal growth retardation Macrocephaly Leukopenia Recurrent bacterial infections Sepsis Neutropenia Growth delay Abnormality of the nervous system Obstructive lung disease J-shaped sella turcica Acetabular dysplasia Thickened skin Hypertrophic cardiomyopathy Patent ductus arteriosus Atrial septal defect Epicanthus Spasticity Thoracic kyphosis Hyperactive deep tendon reflexes Hydrops fetalis Neurodegeneration Recurrent upper respiratory tract infections Bone marrow hypocellularity Opacification of the corneal stroma Elevated hepatic transaminase Thick vermilion border Optic atrophy Sparse scalp hair Behavioral abnormality Hypertension Delayed skeletal maturation Pectus excavatum Anterior beaking of lumbar vertebrae Short nose High palate Abnormality of the dentition Hypertelorism Joint stiffness Cataract Malabsorption Osteoporosis Joint laxity Platyspondyly Abnormality of amino acid metabolism Hyperlordosis Pulmonary arterial hypertension Ridged cranial sutures Cutis laxa Asthma Plagiocephaly Tonsillitis Recurrent upper and lower respiratory tract infections Incisional hernia Restricted chest movement Abnormality of nasopharyngeal adenoids Lymphopenia Abnormality of the Eustachian tube Microcephaly Myopia Cleft palate Tapered finger Bronchiectasis Respiratory insufficiency Renal agenesis Midface retrusion Broad thumb Mitral regurgitation Pulmonic stenosis Pneumonia Hydronephrosis Expressive language delay Abnormality of mucopolysaccharide metabolism Glaucoma Prominent nose Urinary incontinence Full cheeks Conductive hearing impairment Congestive heart failure Frontal bossing Irregular ossification at anterior rib ends Otitis media Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Myocardial necrosis Proximal femoral metaphyseal irregularity Enlargement of the costochondral junction Abnormality of the skin Abnormality of the cardiovascular system Functional motor deficit Abnormality of the skull Thenar muscle atrophy Failure to thrive in infancy Flared nostrils Mucopolysacchariduria Wrist flexion contracture Clubbing of fingers Papilledema Osteoarthritis Protuberant abdomen Rhinitis Short finger Bowel incontinence Prominent supraorbital ridges Hoarse voice Tented upper lip vermilion Varicose veins Unilateral renal agenesis Thick eyebrow Hypertrichosis Lumbar hyperlordosis Spastic tetraplegia Hip dysplasia Webbed neck Tetraplegia Vertigo Cardiac arrest Facial asymmetry Poor speech Intellectual disability, moderate Muscular hypotonia of the trunk Kyphoscoliosis Polyhydramnios Broad-based gait Pterygium Arrhythmia Pulmonary insufficiency Proximal tapering of metacarpals Decreased pulmonary function Pseudoarthrosis Snoring Narrow greater sacrosciatic notches Thoracic kyphoscoliosis Recurrent ear infections Pleural effusion Broad ribs Nonimmune hydrops fetalis Thoracolumbar scoliosis Spinal cord compression Mild short stature Metatarsus adductus Severe short stature Dilatation Long fingers Congenital neutropenia Feeding difficulties Cor triatriatum Neonatal sepsis Intermittent thrombocytopenia Monocytosis Erythroid hypoplasia Giant platelets Cerebellar atrophy Hypoplasia of the thymus Prominent superficial veins Persistence of hemoglobin F Premature loss of teeth Abnormality of lipid metabolism Iron deficiency anemia Brachydactyly Clinodactyly of the 5th finger Hypertonia Short fourth metatarsal Edema Hydrocephalus Ventriculomegaly Talipes equinovarus Motor delay Cognitive impairment Increased nuchal translucency Cerebral cortical atrophy Long nose Deep philtrum Finger clinodactyly Cerebral visual impairment Highly arched eyebrow Short distal phalanx of finger Arthrogryposis multiplex congenita Paroxysmal nocturnal hemoglobinuria Exocrine pancreatic insufficiency Metaphyseal sclerosis Abnormality of movement Progressive visual loss Waddling gait Progressive cerebellar ataxia Pes planus Falls Dysmetria Mental deterioration Choreoathetosis Arthritis Microtia Neurological speech impairment Myoclonus Dementia Visual loss Cardiomegaly Laryngomalacia Sleep disturbance Cherry red spot of the macula Cerebral ischemia Arterial thrombosis Subcutaneous hemorrhage Urinary excretion of sialylated oligosaccharides Increased urinary O-linked sialopeptides Bone-marrow foam cells Facial edema Slurred speech Vacuolated lymphocytes Foam cells Delayed speech and language development Hand tremor Syringomyelia Epiphyseal stippling Dyskinesia Tremor Arteriovenous malformation Corneal crystals Flaring of rib cage Cervical subluxation Cervical cord compression Ulnar deviation of the wrist Cervical myelopathy Atlantoaxial dislocation Avascular necrosis of the capital femoral epiphysis Keratan sulfate excretion in urine Multiple epiphyseal dysplasia Disproportionate short-trunk short stature Apnea Wide mouth Restrictive ventilatory defect Epiphyseal dysplasia Grayish enamel Epiphyseal deformities of tubular bones Skeletal muscle atrophy Macroorchidism Abnormal vertebral morphology Peripheral neuropathy Chronic otitis media Thickened calvaria Muscular hypotonia Abnormality of the ulna Abnormal cortical bone morphology Pointed proximal second through fifth metacarpals Large face Vascular skin abnormality Aspartylglucosaminuria Large elbow Chondroitin sulfate excretion in urine Constricted iliac wings Esophageal varix Pulmonary embolism Anterior rib cupping Arachnodactyly Abnormality of the metaphysis Pancytopenia Apraxia Eczema Microdontia Specific learning disability Generalized muscle weakness Short ribs Retinal detachment Ichthyosis Narrow chest Leukemia Small for gestational age Recurrent fractures Decreased liver function Type I diabetes mellitus Gastrointestinal hemorrhage Acute myeloid leukemia Metaphyseal chondrodysplasia Recurrent aphthous stomatitis Acute monocytic leukemia Recurrent viral infections Aplastic anemia Coxa valga Myeloid leukemia Nephrocalcinosis Multiple lipomas Steatorrhea Short thorax Neonatal respiratory distress Myelodysplasia Coxa vara Immunodeficiency Psychosis Disproportionate tall stature Hip dislocation Brain atrophy Hepatic steatosis Wide nose Urticaria Abnormality of the foot Synophrys Abnormal pyramidal sign Cerebral calcification Intracranial hemorrhage Telecanthus Ectopia lentis Prominent forehead Abnormal heart morphology Hemiplegia/hemiparesis Delayed myelination Abnormal lung morphology Neoplasm Large forehead Hypoplastic acetabulae Dental crowding Amblyopia Macrovesicular hepatic steatosis Anorexia Flared iliac wings Tubular atrophy Long eyelashes Focal segmental glomerulosclerosis Glomerulosclerosis Coarse hair Abnormality of retinal pigmentation Joint contracture of the hand Venous thrombosis Anterior beaking of lower thoracic vertebrae


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