Hepatomegaly, and Narrow chest

Diseases related with Hepatomegaly and Narrow chest

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

Top matches:

RHPD2 is an autosomal recessive multisystemic disorder with severe abnormalities apparent in utero and often resulting in fetal death or death in infancy. The main organs affected include the kidney, liver, and pancreas, although other abnormalities, including cardiac, skeletal, and lung defects, may also be present. Affected individuals often have situs inversus. The disorder results from a defect in ciliogenesis and ciliary function, as well as in cell proliferation and epithelial morphogenesis; thus, the clinical manifestations are highly variable (summary by Grampa et al., 2016).For a discussion of genetic heterogeneity of renal-hepatic-pancreatic dysplasia, see RHPD1 (OMIM ).

Related symptoms:

  • Hepatomegaly
  • Talipes equinovarus
  • Hypertrophic cardiomyopathy
  • Pulmonic stenosis
  • Narrow chest


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 2; RHPD2

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

Neonatal severe primary hyperparathyroidism (NSHPT) is characterized by severe hypercalcemia (> 3.5 mM) from birth and associated with major hyperparathyroidism.

NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM Is also known as nhpt|nsph|nshpt|hyperparathyroidism, neonatal severe primary

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Neoplasm
  • Failure to thrive
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about NEONATAL SEVERE PRIMARY HYPERPARATHYROIDISM

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}).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

High match PYCNODYSOSTOSIS

Pycnodysostosis is a genetic lysosomal disease characterized by osteosclerosis of the skeleton, short stature and brittle bones.

PYCNODYSOSTOSIS Is also known as pyknodysostosis|pycd|pknd

Related symptoms:

  • Short stature
  • Scoliosis
  • Micrognathia
  • Pain
  • Cognitive impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PYCNODYSOSTOSIS

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

Infantile malignant osteopetrosis is a rare congenital disorder of bone resorption characterised by generalised skeletal densification.

AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS Is also known as infantile malignant osteopetrosis|osteopetrosis, infantile malignant 2

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE MALIGNANT OSTEOPETROSIS

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

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

Greenberg dysplasia is a very rare lethal skeletal dysplasia characterized by fetal hydrops, short limbs and abnormal chondro-osseous calcification. The disease is characterized by early in utero lethality and affected fetuses are considered as nonviable.

GREENBERG DYSPLASIA Is also known as skeletal dysplasia, greenberg type|hem dysplasia|moth-eaten skeletal dysplasia|hem skeletal dysplasia|hydrops-ectopic calcification-motheaten syndrome|hydrops-ectopic calcification-moth-eaten skeletal dysplasia|chondrodystrophy, hydropic and prenatally le

Related symptoms:

  • Hypertelorism
  • Micrognathia
  • Low-set ears
  • Depressed nasal bridge
  • Hepatomegaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GREENBERG DYSPLASIA

Top 5 symptoms//phenotypes associated to Hepatomegaly and Narrow chest

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Macrocephaly Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Short ribs Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Narrow chest. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Depressed nasal bridge Polyhydramnios Skeletal dysplasia Limb undergrowth Anemia Hepatosplenomegaly Polydactyly Abnormality of the metaphysis Rhizomelia Postaxial hand polydactyly Hypophosphatemia Low-set ears Abnormality of the skeletal system Postaxial polydactyly Mesomelia Frontal bossing Generalized hypotonia Syndactyly Recurrent fractures Micrognathia Midface retrusion Respiratory insufficiency Bone marrow hypocellularity Pulmonary hypoplasia Abnormality of epiphysis morphology Hypertelorism Craniosynostosis Scoliosis High forehead Failure to thrive

Rare Symptoms - Less than 30% cases

Hydrops fetalis Blue sclerae Small nail Abnormal pelvis bone ossification Pectus excavatum Hypodontia Bone pain Increased bone mineral density Recurrent respiratory infections Patent ductus arteriosus Respiratory distress Epicanthus Abnormality of the fingernails Metaphyseal cupping Disproportionate short-limb short stature Cystic hygroma Anteverted nares Respiratory tract infection Malar flattening Respiratory failure Abnormality of the dentition Hydrocephalus Severe short stature Carious teeth Delayed eruption of teeth Apnea Edema Hypoplasia of the maxilla Platyspondyly Delayed skeletal maturation Horizontal ribs Short neck Micromelia Osteopetrosis Hypoplastic vertebral bodies Pancytopenia Neoplasm Thoracic dysplasia Preaxial polydactyly Short long bone Oral cleft Cleft lip Bowing of the long bones Elevated hepatic transaminase Femoral bowing Hepatic fibrosis Cholestasis Cardiomegaly Renal cyst Global developmental delay Muscular hypotonia Sepsis Anterior rib cupping Microdontia Metaphyseal irregularity Abnormally ossified vertebrae Vertebral hypoplasia Growth delay Hypertension Narrow forehead Renal insufficiency Wide nasal bridge Metopic synostosis Neutropenia Hernia Portal fibrosis Clinodactyly Abnormal heart morphology High palate Dolichocephaly Ectodermal dysplasia Fused teeth Cleft palate Intellectual disability Gait disturbance Intellectual disability, mild Immunodeficiency Recurrent infections Thrombocytopenia Osteopenia Pectus carinatum Small for gestational age Leukemia Malabsorption Ichthyosis Bile duct proliferation Full cheeks Inguinal hernia Biliary cirrhosis Widely spaced teeth Chronic kidney disease Blepharophimosis Sparse hair Patent foramen ovale Sparse eyebrow Abnormality of the pinna Nephronophthisis Joint laxity Cutaneous finger syndactyly Polysplenia High anterior hairline Telecanthus Cholangitis Cutis laxa Proteinuria Plagiocephaly Broad philtrum Smooth philtrum Cloverleaf skull Retrognathia Left ventricular hypertrophy Acidosis Sparse eyelashes Narrow palpebral fissure Upslanted palpebral fissure Stage 5 chronic kidney disease Everted lower lip vermilion Rod-cone dystrophy Hyperbilirubinemia Acute monocytic leukemia Generalized muscle weakness Lethal skeletal dysplasia Absent toenail Sclerosis of skull base Pancreatic islet-cell hyperplasia Long clavicles Ectopic calcification Diaphyseal thickening Extramedullary hematopoiesis Ulnar deviation of the hand 11 pairs of ribs Multiple prenatal fractures Large forehead Hypoplastic fingernail Nonimmune hydrops fetalis Decreased skull ossification Misalignment of teeth Calvarial skull defect Preeclampsia Barrel-shaped chest Postaxial foot polydactyly Abnormal bone ossification Severe short-limb dwarfism Epiphyseal stippling Abnormal foot bone ossification Sternal punctate calcifications Anterior rib punctate calcifications Abnormal ossification involving the femoral head and neck Supernumerary vertebral ossification centers Abnormality of the vertebral spinous processes Laryngeal calcification Tracheal calcification Abnormality of the calcaneus Punctate vertebral calcifications Hepatic calcification Severe hydrops fetalis Absent or minimally ossified vertebral bodies Short diaphyses Horizontal sacrum Abnormality of the scapula Abnormality of cholesterol metabolism Abnormality of the orbital region Ectopic ossification Aplasia/hypoplasia of the extremities Abnormal leukocyte morphology Abnormal lung lobation Abnormal joint morphology Specific learning disability Neonatal respiratory distress Aplastic anemia Ovoid vertebral bodies Exocrine pancreatic insufficiency Acute myeloid leukemia Myeloid leukemia Multiple lipomas Steatorrhea Short thorax Metaphyseal widening Optic nerve compression Myelodysplasia Leukopenia Coxa vara Recurrent bacterial infections Nephrocalcinosis Type I diabetes mellitus Decreased liver function Apraxia Eczema Recurrent viral infections Recurrent aphthous stomatitis Broad palm Intestinal malrotation Narrow nasal bridge Thoracic hypoplasia Flared metaphysis Pleural effusion Sandal gap Lymphedema Short phalanx of finger Omphalocele Abnormal form of the vertebral bodies Irregular ossification at anterior rib ends Metaphyseal chondrodysplasia Narrow sacroiliac notch Proximal femoral epiphysiolysis Metaphyseal dysostosis Myocardial necrosis Proximal femoral metaphyseal irregularity Enlargement of the costochondral junction Paroxysmal nocturnal hemoglobinuria Persistence of hemoglobin F Metaphyseal sclerosis Opsoclonus Delayed epiphyseal ossification Abnormal pulmonary valve morphology Metaphyseal dysplasia Complete atrioventricular canal defect Vaginal atresia Median cleft lip Short clavicles Spinal canal stenosis Increased number of teeth Hamartoma Atrioventricular canal defect Bilateral postaxial polydactyly Cone-shaped epiphysis Cutaneous syndactyly Horseshoe kidney Coarctation of aorta Nail dysplasia Cleft upper lip Downslanted palpebral fissures Accessory oral frenulum Hydrometrocolpos Abnormality of calcium-phosphate metabolism Hyperlordosis Abnormal vertebral morphology Abnormality of the face Abnormality of the skin Growth hormone deficiency Prominent nose Postural instability Short distal phalanx of finger Proptosis Hypoplasia of the epiglottis Brachycephaly Osteoporosis Prominent forehead Kyphosis Cognitive impairment Pain Partial atrioventricular canal defect Abnormal facial shape Parathyroid hyperplasia Abnormality of the nail Asplenia Lateral clavicle hook Ambiguous genitalia Ventricular septal defect Pancreatic dysplasia Heterotaxy Cystic renal dysplasia Agenesis of cerebellar vermis Truncus arteriosus Acetabular spurs Enlarged kidney Situs inversus totalis Aortic valve stenosis Oligohydramnios Renal agenesis Pulmonic stenosis Hypertrophic cardiomyopathy Pancreatic fibrosis Constipation Parathyroid adenoma Hyperparathyroidism Primary hyperparathyroidism Hyperphosphaturia Elevated circulating parathyroid hormone level Neoplasm of the endocrine system Calcinosis Hashimoto thyroiditis Thyroiditis Abnormality of the thyroid gland Dyspnea Polyuria Polydipsia Hypercalcemia Hypercalciuria Tachypnea Aminoaciduria Cyanosis Feeding difficulties in infancy Short toe Wormian bones Abnormality of temperature regulation Squared iliac bones Optic atrophy Visual impairment Nystagmus Hearing impairment Seizures Posterior rib cupping Severe platyspondyly Hypoplastic pubic bone Abnormality of metabolism/homeostasis Hypoplastic ischia Renal phosphate wasting Flat acetabular roof Talipes equinovarus Bell-shaped thorax Protuberant abdomen Flat occiput Tremor Facial palsy Relative macrocephaly Cranial nerve paralysis Abnormality of hair texture Chronic rhinitis Premature loss of primary teeth Pulmonary artery stenosis Abnormality of visual evoked potentials Reticulocytosis Reduced bone mineral density Hypocalcemia Pallor Pulmonary arterial hypertension Abnormality of the ribs Abnormal blistering of the skin Otitis media Bruising susceptibility Lymphadenopathy Abnormality of movement Prominent supraorbital ridges Recurrent pneumonia Narrow palate Prominent occiput Small face Ridged nail Spondylolisthesis Osteolytic defects of the phalanges of the hand Abnormality of the clavicle Abnormality of the vertebral column Agenesis of permanent teeth Osteomyelitis Abnormal pattern of respiration Abnormality of dental morphology Abnormality of the thorax Back pain Increased susceptibility to fractures Abnormality of pelvic girdle bone morphology Sleep apnea Osteolysis Low back pain Persistence of primary teeth Wide anterior fontanel Wide mouth Large fontanelles Broad thumb Short metacarpal Tapered finger Short foot Small hand Short palm Joint stiffness Delayed eruption of permanent teeth Long philtrum Short nose Persistent open anterior fontanelle Osteolytic defects of the distal phalanges of the hand Spondylolysis Snoring Absent frontal sinuses Delayed eruption of primary teeth Patchy variation in bone mineral density


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