Hepatomegaly, and Pulmonary hypoplasia

Diseases related with Hepatomegaly and Pulmonary hypoplasia

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

NEPHRONOPHTHISIS 2; NPHP2 Is also known as nph2

Related symptoms:

  • Global developmental delay
  • Anemia
  • Hypertension
  • Hepatomegaly
  • Respiratory insufficiency


SOURCES: OMIM MESH MENDELIAN

More info about NEPHRONOPHTHISIS 2; NPHP2

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

Other less relevant matches:

Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

High match ALG8-CDG

ALG8-CDG is a form of congenital disorders of N-linked glycosylation that is characterized by gastrointestinal symptoms (diarrhea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), edema and ascites (including hydrops fetalis; see this term), hepatomegaly, renal tubulopathy, coagulation anomalies due to thrombocytopenia, brain involvement (psychomotor delay, seizures, ataxia), facial dysmorphism (low-set ears and retrognathia), pes equinovarus, and muscular hypotonia. Cataracts may also be observed. Prognosis is usually poor. The disease is caused by loss-of-function mutations in the gene ALG8 (11q14.1), resulting in a block in the initial step of protein glycosylation.

ALG8-CDG Is also known as cdg-ih|congenital disorder of glycosylation type 1h|cdgih|carbohydrate deficient glycoprotein syndrome type ih|cdg1h|cdg syndrome type ih|cdg ih|glucosyltransferase 2 deficiency|congenital disorder of glycosylation type ih

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ALG8-CDG

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

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

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

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.

SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type|srps iv|short rib-polydactyly syndrome type 4|short rib-polydactyly syndrome, type iv|beemer-langer syndrome|srps4

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Cleft palate
  • Low-set ears
  • Epicanthus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

FETAL GAUCHER DISEASE Is also known as perinatal lethal gaucher disease|gaucher disease, collodion type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism
  • Micrognathia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FETAL GAUCHER DISEASE

Top 5 symptoms//phenotypes associated to Hepatomegaly and Pulmonary hypoplasia

Symptoms // Phenotype % cases
Respiratory insufficiency Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Cholestasis Uncommon - Between 30% and 50% cases
Oligohydramnios Uncommon - Between 30% and 50% cases
Polyhydramnios Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hepatomegaly and Pulmonary hypoplasia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Polydactyly Enlarged kidney Brachydactyly Low-set ears Edema Short neck Intrauterine growth retardation Talipes equinovarus Splenomegaly Postaxial polydactyly Ventricular septal defect Ascites Hepatic fibrosis Renal cyst Narrow chest Micrognathia Macrocephaly Portal fibrosis Hepatosplenomegaly Hepatic failure Patent ductus arteriosus Depressed nasal bridge Respiratory distress Abnormal facial shape Depressed nasal ridge Cardiomegaly Intestinal malrotation Situs inversus totalis Short ribs Pancreatic cysts Omphalocele Pancreatic fibrosis Abnormality of the pinna Cystic renal dysplasia Abnormality of the kidney Respiratory failure Abnormality of the liver Stage 5 chronic kidney disease Hydrops fetalis Renal insufficiency Polycystic kidney dysplasia Anemia Limb undergrowth Pancreatic dysplasia

Rare Symptoms - Less than 30% cases

Micromelia Atelectasis High forehead Severe hydrops fetalis Hepatic cysts Potter facies Protuberant abdomen Periportal fibrosis Low-set, posteriorly rotated ears Generalized hypotonia Dandy-Walker malformation Growth delay Polysplenia Jaundice Broad palm Cystic hygroma Flexion contracture Nonimmune hydrops fetalis Lymphedema Short nose Renal dysplasia Camptodactyly Extramedullary hematopoiesis Thoracic hypoplasia Thrombocytopenia Pleural effusion Disproportionate short-limb short stature Decreased fetal movement Postaxial hand polydactyly Renal hypoplasia Strabismus Asplenia Muscular hypotonia Spasticity Epicanthus Syndactyly Femoral bowing Cleft lip Thickened skin Metabolic acidosis Oral cleft Aortic valve stenosis Abnormality of the face Abnormal cardiac septum morphology Acidosis Ambiguous genitalia Dilatation Global developmental delay Atrial septal defect Hypertension Short long bone Failure to thrive Seizures Thoracic dysplasia Preaxial polydactyly Absence of renal corticomedullary differentiation Bowing of the legs Anophthalmia Craniosynostosis Rigidity Short thorax Patent foramen ovale Metaphyseal irregularity Natal tooth Upslanted palpebral fissure Milia Short finger Bilateral single transverse palmar creases Hypoplastic nipples Recurrent respiratory infections Anencephaly Median cleft lip Broad foot Cerebellar hypoplasia Microglossia Single umbilical artery Hypoplastic scapulae Holoprosencephaly Macular dystrophy Short toe Abnormality of the cerebellar vermis Cleft palate Extrapulmonary sequestrum Hypoplastic colon Hypoplasia of the small intestine Aplasia/Hypoplasia of the macula Hemivertebrae Lymphangioma Frontal bossing Subcortical cerebral atrophy Oxycephaly Rib fusion Broad neck Redundant skin Generalized hyperpigmentation Wide nasal bridge Multicystic kidney dysplasia Anal atresia Premature graying of hair Wide intermamillary distance Single transverse palmar crease Short foot Hypopigmentation of the skin Enlarged fetal cisterna magna Specific learning disability Short palm Hydrocephalus Muscle stiffness Flat face Cleft upper lip Talipes Posteriorly rotated ears Inguinal hernia Cerebral cortical hemiatrophy Proptosis Preaxial foot polydactyly Apathy Hypokinesia Petechiae Opisthotonus Abnormality of coagulation Multiple joint contractures Neonatal respiratory distress Akinesia Congenital contracture Low voltage EEG Ectropion Intracranial hemorrhage Poor suck Purpura Knee flexion contracture Open mouth Progressive neurologic deterioration Congenital ichthyosiform erythroderma Distal arthrogryposis Pancytopenia Generalized hyperkeratosis Abnormality of the small intestine Decreased beta-glucocerebrosidase protein and activity Sudden episodic apnea Desquamation of skin soon after birth Myocardial necrosis Hepatic necrosis Abnormality of the spinal cord Everted upper lip vermilion Cardiorespiratory arrest Pneumothorax Astrocytosis Abnormality of the spleen Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Overlapping fingers Fetal akinesia sequence Interphalangeal joint contracture of finger Cerebral calcification Bifid tongue Intrahepatic bile duct cysts Ventriculomegaly Dysphagia Skeletal muscle atrophy Hyperreflexia High palate Microcephaly Absent internal genitalia Bowing of the arm Hypertonia Fetal ascites Abnormality of the microglia Hamartoma of tongue Lobulated tongue Accessory spleen Horizontal ribs Median cleft lip and palate Anteverted nares Hyperkeratosis Underdeveloped nasal alae Abnormality of eye movement Premature birth Abnormal bleeding Hydropic placenta Triangular face Everted lower lip vermilion High, narrow palate Ichthyosis Arthrogryposis multiplex congenita Narrow mouth Microtia Developmental regression Apnea Neonatal hypotonia Elevated hepatic transaminase Retrognathia Abnormal pupillary function Abnormality of cardiovascular system morphology Lethal skeletal dysplasia Tremor Azotemia Hypothyroidism Long philtrum Diarrhea Vomiting Cryptorchidism Cataract Hypoplasia of the ear cartilage Large fontanelles Hematemesis Hypersplenism Biliary tract abnormality Tubulointerstitial fibrosis Congenital hepatic fibrosis Cholangitis Dyspnea Decreased liver function Chronic lung disease Diabetes mellitus Biliary cirrhosis Preauricular pit Type I diabetes mellitus Spontaneous abortion Polymicrogyria Cirrhosis Abnormal heart morphology Abnormal intestine morphology Abnormal isoelectric focusing of serum transferrin Primary hypothyroidism Abnormality of the renal tubule Protein-losing enteropathy Hypoalbuminemia Tachypnea Esophageal varix Multiple renal cysts Short sternum Polydipsia Tubulointerstitial nephritis Elevated serum creatinine Nephronophthisis Hyperkalemia Polyuria Nephritis Nephropathy Pulmonary insufficiency Heterotaxy Agenesis of cerebellar vermis Truncus arteriosus Renal agenesis Pulmonic stenosis Hypertrophic cardiomyopathy Cholestatic liver disease Hyperechogenic kidneys Portal hypertension Congestive heart failure Chronic kidney disease Renal hypoplasia/aplasia Abnormal lung morphology Dehydration Scarring Macrotia Acetabular spurs Oliguria Lateral clavicle hook Short stature Hyperkalemic metabolic acidosis Chronic tubulointerstitial nephritis Renal cortical microcysts Tubulointerstitial abnormality Bile duct proliferation Glutaric acidemia Optic atrophy Aplasia/hypoplasia of the extremities Short diaphyses Horizontal sacrum Abnormality of the scapula Abnormality of cholesterol metabolism Abnormality of the orbital region Ectopic ossification Abnormal leukocyte morphology Abnormal pelvis bone ossification Severe short-limb dwarfism Abnormally ossified vertebrae Multiple prenatal fractures Abnormal bone ossification Absent toenail Vertebral hypoplasia Absent or minimally ossified vertebral bodies Hepatic calcification Hypoplastic vertebral bodies Anterior rib punctate calcifications Myopia Nystagmus Ataxia Intellectual disability Patchy variation in bone mineral density Sternal punctate calcifications Abnormal ossification involving the femoral head and neck Abnormal foot bone ossification Supernumerary vertebral ossification centers Abnormality of the vertebral spinous processes Laryngeal calcification Tracheal calcification Abnormality of the calcaneus Punctate vertebral calcifications Sclerosis of skull base Pancreatic islet-cell hyperplasia Multiple glomerular cysts Abnormal form of the vertebral bodies Sandal gap Abnormality of the fingernails Bone marrow hypocellularity Rhizomelia Short phalanx of finger Bowing of the long bones Hypoplasia of the maxilla Mesomelia Platyspondyly Skeletal dysplasia Severe short stature Midface retrusion Malar flattening Ureteral atresia Flared metaphysis Narrow nasal bridge Long clavicles Hypoplastic fingernail Ectopic calcification Diaphyseal thickening Metaphyseal cupping Ulnar deviation of the hand 11 pairs of ribs Large forehead Decreased skull ossification Abnormal joint morphology Misalignment of teeth Calvarial skull defect Preeclampsia Barrel-shaped chest Postaxial foot polydactyly Abnormal lung lobation Epiphyseal stippling Mild fetal ventriculomegaly


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