Hepatomegaly, and Pectus excavatum

Diseases related with Hepatomegaly and Pectus excavatum

In the following list you will find some of the most common rare diseases related to Hepatomegaly and Pectus excavatum 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

High match OPSISMODYSPLASIA

Opsismodysplasia is a skeletal dysplasia characterized by congenital dwarfism and facial dysmorphism.

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hypertelorism
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about OPSISMODYSPLASIA

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

Other less relevant matches:

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

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

Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Aarskog-Scott syndrome, also known as faciogenital dysplasia, is an X-linked disorder characterized by short stature, hypertelorism, shawl scrotum, and brachydactyly, although there is wide phenotypic variability and other features, such as joint hyperextensibility, short nose, widow's peak, and inguinal hernia, may also occur. Most patients do not have mental retardation, but some may have neurobehavioral features. Carrier females may present with subtle features, such as widow's peak or short stature (summary by Orrico et al., 2010).

AARSKOG-SCOTT SYNDROME; AAS Is also known as aarskog syndrome, x-linked|faciodigitogenital syndrome|fgdy|faciogenital dysplasia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about AARSKOG-SCOTT SYNDROME; AAS

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

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

High match C SYNDROME

C syndrome is a rare multiple congenital anomaly/intellectual disability syndrome characterized by trigonocephaly and metopic suture synostosis, dysmorphic facial features, short neck, skeletal anomalies, and variable intellectual disability.

C SYNDROME Is also known as opitz c trigonocephaly|trigonocephaly syndrome|trigonocephaly c syndrome|otcs|opitz trigonocephaly syndrome|opitz trigonocephaly c syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about C SYNDROME

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

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Limb undergrowth Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Brachydactyly Epicanthus Wide nasal bridge Hypertension High palate Congestive heart failure Short neck Depressed nasal bridge Splenomegaly Frontal bossing Generalized hypotonia Upslanted palpebral fissure Long philtrum Delayed skeletal maturation Polyhydramnios Narrow chest Abnormal heart morphology Clinodactyly Abnormality of the skeletal system Micrognathia Flexion contracture High forehead Short nose Hernia Intellectual disability Patent ductus arteriosus Radial deviation of finger Rhizomelia Cleft palate Low-set ears Syndactyly Wide mouth Short palm Optic atrophy Short foot Dolichocephaly Joint stiffness Elevated hepatic transaminase Craniosynostosis Joint laxity Telecanthus Cutis laxa Talipes Growth delay Hepatic steatosis Hirsutism Dilatation Round face Full cheeks Scoliosis Talipes equinovarus Smooth philtrum Cataract Strabismus Failure to thrive Abnormal facial shape

Rare Symptoms - Less than 30% cases

J-shaped sella turcica Polydactyly Inguinal hernia Abnormality of cardiovascular system morphology Microcephaly Redundant skin Dysostosis multiplex Renal insufficiency Abnormality of the dentition Clinodactyly of the 5th finger Omphalocele Thickened skin Joint contracture of the hand Bicuspid aortic valve Retrognathia Obesity Proteinuria Abnormality of the genital system Hip dislocation Hypertrophic cardiomyopathy Cardiomyopathy Anemia Metopic synostosis Bile duct proliferation Cryptorchidism Broad philtrum Ventricular septal defect Polymicrogyria Chronic kidney disease Single transverse palmar crease Hypodontia Widely spaced teeth Sparse hair Nystagmus Neonatal hypotonia Short ribs Hepatic fibrosis Cholestasis Thoracic hypoplasia Postaxial hand polydactyly Microdontia Ectodermal dysplasia Scaphocephaly Renal cyst Everted lower lip vermilion Skeletal muscle atrophy Stage 5 chronic kidney disease Thin vermilion border Hepatosplenomegaly Pectus carinatum Short metacarpal Large fontanelles Small hand Micromelia Respiratory tract infection Skeletal dysplasia Short long bone Respiratory failure Severe short stature Recurrent respiratory infections Protuberant abdomen Respiratory insufficiency Macrocephaly Muscular hypotonia Abnormality of the metaphysis Myopia Osteopenia Osteoporosis Behavioral abnormality Renal cortical microcysts Cerebral hypoplasia Abdominal distention Chylous ascites Ascites Abnormality of the cerebral white matter Severe global developmental delay Fetal ascites Progressive visual loss Calcific stippling Generalized cerebral atrophy/hypoplasia Abnormality of the liver Glaucoma Feeding difficulties in infancy Kyphosis Gliosis Peripheral demyelination Aspiration pneumonia Decreased muscle mass Adrenal hypoplasia Undetectable electroretinogram Primary adrenal insufficiency Corpus callosum atrophy Cortical dysplasia Genu valgum Delayed cranial suture closure Aplasia/Hypoplasia of the cerebellum Split hand Hammertoe Arachnodactyly Progressive hearing impairment Aspiration Pachygyria Heterotopia Enterocolitis Cerebral dysmyelination Decreased nerve conduction velocity Visual loss Pneumonia Cleft upper lip Increased intracranial pressure Lymphedema Gastrointestinal hemorrhage Generalized-onset seizure Hypoplasia of the maxilla Psychosis Sparse scalp hair Dental crowding Joint hypermobility Cirrhosis Delayed puberty Mild short stature Pulmonic stenosis Hypermetropia Attention deficit hyperactivity disorder Camptodactyly Pes planus Umbilical hernia Abdominal pain Hyperactivity Alopecia Depressivity Intellectual disability, mild Recurrent fractures Interstitial pulmonary abnormality Postnatal growth retardation Prominent umbilicus Hypospadias Cerebellar atrophy Hypoplasia of the corpus callosum Ventriculomegaly Visual impairment Retinal detachment Hearing impairment Cervical spine hypermobility Curved linear dimple below the lower lip Increased upper to lower segment ratio Frontoparietal polymicrogyria Broad palm Osteochondritis Dissecans Hyperextensibility of the finger joints Volvulus Large earlobe Widow's peak Short 5th finger Genu recurvatum Broad foot Hypoplasia of the odontoid process Shawl scrotum Macrocytic anemia Photophobia Fine hair Protruding ear Horseshoe kidney Hand polydactyly Failure to thrive in infancy Renal hypoplasia/aplasia Sacral dimple Aplasia/Hypoplasia of the corpus callosum Short chin Joint dislocation Multicystic kidney dysplasia Bilateral single transverse palmar creases Clitoral hypertrophy Gingival overgrowth Intellectual disability, profound Congenital diaphragmatic hernia Tetralogy of Fallot Limitation of joint mobility Postaxial polydactyly Oral cleft Toe syndactyly Low-set, posteriorly rotated ears Trigonocephaly Multiple joint contractures Proptosis Accessory oral frenulum Thick anterior alveolar ridges Midline facial capillary hemangioma Right-to-left shunt Hypoplasia of the ear cartilage Renal cortical cysts Conotruncal defect Pseudohypoaldosteronism Female pseudohermaphroditism Abnormality of the anus Broad alveolar ridges Biparietal narrowing Medulloblastoma Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the helix Abnormal hair pattern Postaxial foot polydactyly Anal stenosis Ulnar deviation of finger Abnormality of immune system physiology Dislocated radial head Cleft lip Posteriorly rotated ears Finger syndactyly Hypocalcemia Fibular hypoplasia Short humerus High hypermetropia Prominent occiput Short thorax Abnormality of dental morphology Cupped ear Abnormality of the fingernails Abnormality of dental enamel Short toe Tubulointerstitial nephritis Hypoplasia of dental enamel Downslanted palpebral fissures Hypotelorism Nephropathy High, narrow palate Retinal dystrophy Short distal phalanx of finger Hepatic failure Joint hyperflexibility Taurodontia Anodontia Agenesis of corpus callosum Tubulointerstitial abnormality Constipation Intellectual disability, severe Intrauterine growth retardation Motor delay Malformation of the hepatic ductal plate Broad distal phalanges of all fingers Incisional hernia Renal magnesium wasting Broad toe Short nail Elevated serum creatinine Interstitial pneumonitis Thin nail Flattened epiphysis Abnormality of the abdominal wall Abnormal diaphysis morphology Hepatic cysts Sagittal craniosynostosis Slow-growing hair Abnormal toenail morphology Amblyopia Enlarged peripheral nerve Ptosis Hyperbilirubinemia Nephronophthisis Mesomelia Sparse eyebrow Preaxial polydactyly Patent foramen ovale Edema Plagiocephaly Sparse eyelashes Narrow palpebral fissure Hydrops fetalis Cutaneous finger syndactyly Left ventricular hypertrophy Narrow forehead Platyspondyly Tapered finger Blepharophimosis Blue sclerae Abnormality of the pinna Broad thumb Abnormality of epiphysis morphology Cystic hygroma Polysplenia Recurrent pneumonia Cerebral ischemia Abnormal pyramidal sign Arteriovenous malformation Coarse facial features Prominent forehead Thrombocytopenia Atrial septal defect Esophageal varix Respiratory distress Hyperreflexia Spasticity High anterior hairline Arterial thrombosis Fused teeth Subcutaneous hemorrhage Horizontal ribs Portal fibrosis Abnormality of amino acid metabolism Cloverleaf skull Cholangitis Biliary cirrhosis Wide anterior fontanel Acidosis Synophrys Coxa valga Vertebral hypoplasia Tracheal stenosis Right ventricular hypertrophy High pitched voice Bilateral talipes equinovarus Toe walking Cone-shaped epiphysis Anterior rib cupping Aortic regurgitation Hypoplastic pubic bone Mitral stenosis Aortic valve stenosis Abnormally ossified vertebrae Small nail Ventricular hypertrophy Cardiomegaly Squared iliac bones Severe platyspondyly Posterior rib cupping Camptodactyly of finger Ovoid vertebral bodies Lack of skin elasticity Disproportionate short-limb short stature Flat acetabular roof Rod-cone dystrophy Relative macrocephaly Prominent supraorbital ridges Metaphyseal irregularity Midface retrusion Flat occiput Hypophosphatemia Bell-shaped thorax Delayed epiphyseal ossification Metaphyseal cupping Thickened helices Renal phosphate wasting Hypoplastic ischia Short metacarpals with rounded proximal ends Irregular capital femoral epiphysis Tricuspid stenosis Hypoplastic vertebral bodies Tip-toe gait Wrist flexion contracture Hypoplasia of the capital femoral epiphysis Pulmonary embolism Abnormality of the foot Anorexia Abnormality of lipid metabolism Hyperlipoproteinemia Advanced eruption of teeth Decreased HDL cholesterol concentration Xanthomatosis Angina pectoris Prominent superficial veins Peripheral arterial stenosis Osteolytic defects of the phalanges of the hand Maternal diabetes Insulin-resistant diabetes mellitus Abnormality of the menstrual cycle Short clavicles Hyperuricemia Secondary amenorrhea Glomerulopathy Aplasia/Hypoplasia of the skin Lipoatrophy Cellulitis Reduced subcutaneous adipose tissue Coronary artery atherosclerosis Acute pancreatitis Generalized lipodystrophy Hyperglycemia Increased facial adipose tissue Pain Abnormality of retinal pigmentation Venous thrombosis Increased intramuscular fat Labial pseudohypertrophy Myelin tomacula Thin upper lip vermilion Loss of truncal subcutaneous adipose tissue Sunken cheeks Abnormality of complement system Absence of subcutaneous fat Adipose tissue loss Osteopoikilosis Increased intraabdominal fat Abnormality of skeletal muscle fiber size Increased adipose tissue around the neck Eclampsia Congenital generalized lipodystrophy Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Skeletal muscle hypertrophy Hyperinsulinemia Disproportionate tall stature Coarse hair Macrovesicular hepatic steatosis Acetabular dysplasia Flared iliac wings Large forehead Beaking of vertebral bodies Tubular atrophy Barrel-shaped chest Focal segmental glomerulosclerosis Glomerulosclerosis Bone marrow hypocellularity Hypoplastic acetabulae Long eyelashes Abnormal lung morphology Cerebral calcification Delayed myelination Brain atrophy Macroglossia Hemiplegia/hemiparesis Thick vermilion border Wide nose Obstructive lung disease Ectopia lentis Lipodystrophy Insulin resistance Polycystic ovaries Cranial nerve paralysis Hyperlipidemia Atherosclerosis Acanthosis nigricans Pancreatitis Spontaneous abortion Generalized hirsutism Abnormality of the nail Thin skin Myopathy Myocardial infarction Hypertriglyceridemia Epidermal acanthosis Urticaria Infertility Papule Myalgia Diabetes mellitus Intracranial hemorrhage Fused sternal ossification centers


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