Hepatomegaly, and Postaxial polydactyly

Diseases related with Hepatomegaly and Postaxial polydactyly

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


Top matches:

Medium match SHORT-RIB THORACIC DYSPLASIA 8 WITH OR WITHOUT POLYDACTYLY; SRTD8


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

Medium match 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}).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

Medium 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

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Other less relevant matches:

Medium match RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1


RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1 Is also known as rhpd

Related symptoms:

  • Growth delay
  • Hypertelorism
  • Flexion contracture
  • Hepatomegaly
  • Intrauterine growth retardation


SOURCES: OMIM MENDELIAN

More info about RENAL-HEPATIC-PANCREATIC DYSPLASIA 1; RHPD1

Medium match COG6-CGD


CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Medium match CRANIOECTODERMAL DYSPLASIA 2; CED2


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

Medium match JOUBERT SYNDROME WITH OCULORENAL DEFECT


Joubert syndrome with oculorenal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with both renal and ocular disease.

JOUBERT SYNDROME WITH OCULORENAL DEFECT Is also known as coloboma, chorioretinal, with cerebellar vermis aplasia|arima syndrome|js-or|js type b|cerebellooculorenal syndrome|joubert syndrome with senior-loken syndrome|cors|joubert syndrome with bilateral chorioretinal coloboma|cerebrooculohepatorenal syndrome|de

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about JOUBERT SYNDROME WITH OCULORENAL DEFECT

Medium match GREENBERG DYSPLASIA


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

Medium match ACROCEPHALOPOLYDACTYLOUS DYSPLASIA


Acrocephalopolydactylous dysplasia, or Elejalde syndrome, is a lethal multiple congenital disorder characterized by increased birth weight, globular body with thick skin, organomegaly, and fibrosis in multiple tissues (summary by Phadke et al., 2011).

ACROCEPHALOPOLYDACTYLOUS DYSPLASIA Is also known as elejalde syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about ACROCEPHALOPOLYDACTYLOUS DYSPLASIA

Medium match LATHOSTEROLOSIS


Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.

LATHOSTEROLOSIS Is also known as sc5d deficiency|sterol c5-desaturase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about LATHOSTEROLOSIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Postaxial polydactyly

Symptoms // Phenotype % cases
Polydactyly Very Common - Between 80% and 100% cases
Postaxial hand polydactyly Common - Between 50% and 80% cases
Polyhydramnios Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Short ribs Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Hepatomegaly and Postaxial polydactyly. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hepatic fibrosis Global developmental delay Cholestasis Intellectual disability Epicanthus Hepatosplenomegaly Seizures Low-set ears Limb undergrowth Stage 5 chronic kidney disease Hypertelorism Renal insufficiency Splenomegaly Short stature Growth delay Respiratory insufficiency Narrow chest Syndactyly Pulmonary hypoplasia Depressed nasal bridge Muscular hypotonia Renal cyst Mesomelia Macrocephaly Polysplenia Rhizomelia Patent ductus arteriosus Short neck Intrauterine growth retardation Failure to thrive Cleft lip Nephronophthisis Hydrops fetalis Oral cleft Cystic hygroma Thoracic dysplasia Micrognathia Postaxial foot polydactyly Pancreatic fibrosis Anteverted nares Hyperbilirubinemia Abnormality of the liver Elevated hepatic transaminase Generalized hypotonia Hepatic failure

Rare Symptoms - Less than 30% cases


Anemia Cirrhosis High forehead Nystagmus Strabismus Intestinal malrotation Upslanted palpebral fissure Cerebral atrophy Abnormality of the kidney Ataxia Ptosis Acidosis Abnormal heart morphology Retrognathia Abnormality of cholesterol metabolism Full cheeks Renal dysplasia Polycystic kidney dysplasia Microcephaly Portal fibrosis Talipes equinovarus Midface retrusion Specific learning disability Narrow forehead Craniosynostosis Hepatic steatosis Hypertension Enlarged kidney Wide nasal bridge High palate Bile duct proliferation Thrombocytopenia Abnormality of the pinna Short nose Biliary cirrhosis Abnormality of cardiovascular system morphology Chronic kidney disease Abnormal facial shape Hydrocephalus Multicystic kidney dysplasia Micromelia Biparietal narrowing Skeletal dysplasia Downslanted palpebral fissures Scoliosis Horseshoe kidney Retinal dystrophy Edema Thoracic hypoplasia Cerebellar vermis hypoplasia Cone-shaped epiphysis Short phalanx of finger Respiratory distress Blindness Ventriculomegaly Lateral clavicle hook Ventricular septal defect Short long bone Preaxial polydactyly Horizontal ribs Abnormality of the skeletal system Omphalocele Hypoplastic vertebral bodies Sclerosis of skull base Horizontal sacrum Dilated fourth ventricle Occipital meningocele Abnormality of the scapula Vertebral hypoplasia Multiple small medullary renal cysts Renal corticomedullary cysts Absent toenail Tubulointerstitial fibrosis Abnormality of the orbital region Abnormal bone ossification Multiple prenatal fractures Ectopic ossification Aplasia/Hypoplasia of the cerebellar vermis Aplasia/hypoplasia of the extremities Pancreatic islet-cell hyperplasia Abnormally ossified vertebrae Severe short-limb dwarfism Abnormal leukocyte morphology Severe hydrops fetalis Epiphyseal stippling Renal sodium wasting Brainstem dysplasia Disproportionate short-limb short stature Abnormal form of the vertebral bodies Bowing of the long bones Lymphedema Bone marrow hypocellularity Abnormality of the fingernails Sandal gap Pleural effusion Misalignment of teeth Flared metaphysis Preeclampsia Barrel-shaped chest Narrow nasal bridge Broad palm Abnormal lung lobation Calvarial skull defect Decreased skull ossification Long clavicles Extramedullary hematopoiesis Ectopic calcification Diaphyseal thickening Abnormal joint morphology Malar flattening Severe short stature Metaphyseal cupping Ulnar deviation of the hand Cardiomegaly Lethal skeletal dysplasia 11 pairs of ribs Large forehead Platyspondyly Hypoplastic fingernail Hypoplasia of the maxilla Nonimmune hydrops fetalis Short diaphyses Generalized hyperpigmentation Absent or minimally ossified vertebral bodies Bulbous nose Arnold-Chiari malformation Opacification of the corneal stroma Gingival overgrowth Hypoplasia of penis Sloping forehead Cerebral calcification Microcornea Downturned corners of mouth Thin vermilion border Portal hypertension Talipes Toe syndactyly Conductive hearing impairment Osteoporosis Myoclonus Long philtrum Cataract Hearing impairment Elevated alkaline phosphatase Bilateral talipes equinovarus Hypoplastic colon Neural tube defect Lumbosacral meningocele Bilobate gallbladder Foam cells with lamellar inclusion bodies Severe generalized osteoporosis Schistocytosis Abnormal platelet morphology Cerebellar cortical atrophy Anisopoikilocytosis Increased mean platelet volume Pathologic fracture Butterfly vertebrae Ambiguous genitalia, male Generalized osteoporosis Acanthocytosis Thick upper lip vermilion Intrahepatic cholestasis Myelomeningocele Meningocele Prominent metopic ridge Extrapulmonary sequestrum Hypoplasia of the small intestine Abnormal pelvis bone ossification Sternal punctate calcifications Respiratory failure Recurrent respiratory infections Cerebellar hypoplasia Tremor Optic atrophy Myopia Spasticity Patchy variation in bone mineral density Anterior rib punctate calcifications Anal atresia 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 Abnormal foot bone ossification Hepatic calcification Rigidity Hypopigmentation of the skin Aplasia/Hypoplasia of the macula Protuberant abdomen Cerebral cortical hemiatrophy Abnormality of the cerebellar vermis Lymphangioma Subcortical cerebral atrophy Oxycephaly Cystic renal dysplasia Rib fusion Broad neck Agenesis of cerebellar vermis Ascites Macular dystrophy Premature graying of hair Redundant skin Hemivertebrae Muscle stiffness Thickened skin Abnormality of the face Depressed nasal ridge Renal hypoplasia Congenital hepatic fibrosis Widely spaced teeth Abnormality of the hypothalamus-pituitary axis Hepatic cysts Cerebellar atrophy Hypoplasia of the corpus callosum Pancreatic dysplasia Ureteral atresia Multiple glomerular cysts Glutaric acidemia Potter facies Pancreatic cysts Diarrhea Short sternum Asplenia Preauricular pit Type I diabetes mellitus Spontaneous abortion Situs inversus totalis Aortic valve stenosis Vomiting Immunodeficiency Dandy-Walker malformation Malabsorption Chronic diarrhea Pancytopenia Decreased fetal movement Hip dysplasia Focal-onset seizure Decreased antibody level in blood Abnormal bleeding Arthrogryposis multiplex congenita Recurrent infections Abnormal cardiac septum morphology Muscular hypotonia of the trunk Aggressive behavior Neonatal hypotonia Hyperkeratosis Cerebral cortical atrophy Hyperhidrosis Oligohydramnios Polymicrogyria Lymphopenia Oculomotor apraxia Nail dysplasia Hypodontia Cleft upper lip Cone-shaped epiphyses of the phalanges of the hand Bell-shaped thorax Visual field defect Glucose intolerance Retinal degeneration Small nail Genu valgum Nyctalopia Visual loss Obesity Acetabular spurs Femoral bowing Ambiguous genitalia Coarctation of aorta Cutaneous syndactyly Jaundice Accessory oral frenulum Diabetes mellitus Atrial septal defect Flexion contracture Partial atrioventricular canal defect Hypoplasia of the epiglottis Hydrometrocolpos Bilateral postaxial polydactyly Complete atrioventricular canal defect Atrioventricular canal defect Vaginal atresia Median cleft lip Short clavicles Spinal canal stenosis Increased number of teeth Hamartoma Metaphyseal dysplasia Hypohidrosis Abnormal intestine morphology Undetectable electroretinogram Apnea Iris coloboma Long face Severe global developmental delay Prominent nasal bridge Coloboma Wide mouth Autistic behavior Low-set, posteriorly rotated ears Highly arched eyebrow Dyspnea Behavioral abnormality Intellectual disability, severe Visual impairment Fused teeth Metopic synostosis Cloverleaf skull Nephropathy Encephalocele Cholangitis Hypoplasia of the brainstem Tubular atrophy Foot polydactyly Severe vision loss Congenital blindness Molar tooth sign on MRI Abnormality of neuronal migration Polyuria Chorioretinal coloboma Heterotopia Polydipsia Hand polydactyly Aplasia/Hypoplasia of the corpus callosum Tachypnea Intellectual disability, progressive Aganglionic megacolon Pachygyria Broad philtrum High anterior hairline Inflammation of the large intestine Gastrointestinal inflammation Pectus excavatum Hernia Abnormality of the dentition Frontal bossing Cleft palate Type II transferrin isoform profile Abnormal T cell morphology Macrovesicular hepatic steatosis Inguinal hernia Micronodular cirrhosis Impaired T cell function Proximal tubulopathy Abnormal cortical gyration Neurodevelopmental delay Combined immunodeficiency Loss of consciousness Clinodactyly Rod-cone dystrophy Cutaneous finger syndactyly Microdontia Sparse eyebrow Patent foramen ovale Cutis laxa Plagiocephaly Sparse eyelashes Narrow palpebral fissure Left ventricular hypertrophy Ectodermal dysplasia Proteinuria Everted lower lip vermilion Smooth philtrum Dolichocephaly Blepharophimosis Sparse hair Joint laxity Telecanthus Abnormality of the thoracic spine



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