Hepatomegaly, and Narrow mouth

Diseases related with Hepatomegaly and Narrow mouth

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


Top matches:

High match SYNDROMIC DIARRHEA


Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.

SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome|tricho-hepato-enteric syndrome|diarrhea, fatal infantile, with trichorrhexis nodosa|sd/the|the syndrome|phenotypic diarrhea|diarrhea, syndromic|syndromic diarrhea/tricho-hepato-enteric syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about SYNDROMIC DIARRHEA

High match FETAL GAUCHER DISEASE


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

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Other less relevant matches:

High match ACROOSTEOLYSIS DOMINANT TYPE


Acroosteolysis dominant type (AOD) is a rare genetic osteolysis syndrome characterized by acroosteolysis of distal phalanges and generalized osteoporosis, associated with additional ossification anomalies, craniofacial dysmorphism, dental anomalies and a wide range of other characteristics.

ACROOSTEOLYSIS DOMINANT TYPE Is also known as acrodentoosteodysplasia|acroosteolysis with osteoporosis and changes in skull and mandible|cheney syndrome|hajdu-cheney syndrome|arthrodentoosteodysplasia

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: ORPHANET MENDELIAN

More info about ACROOSTEOLYSIS DOMINANT TYPE

High match MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2


Multiple congenital anomalies-hypotonia-seizures syndrome type 2 is a rare, genetic, lethal, neurometabolic malformation syndrome characterized by multiple, variable, congenital cardiac (systolic murmur, atrial septal defect), urinary (duplicated collecting system, vesicoureteral reflux) and central nervous system (thin corpus callosum, cerebellar hypoplasia) malformations associated with neonatal hypotonia, early-onset epileptic encephalopathy, and myoclonic seizures. Craniofacial dysmorphism (prominent occiput, enlarged fontanel, fused metopic suture, upslanted palpebral fissures, overfolded helix, depressed nasal bridge, anteverted nose, malar flattening, microstomy with downturned corners, Pierre-Robin sequence, high arched palate, short neck) and other manifestions (joint contractures, hyperreflexia, dysplastic nails, developmental delay) are also observed.

MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2 Is also known as epileptic encephalopathy, early infantile, 20|gpibd4|mcahs type 2|glycosylphosphatidylinositol biosynthesis defect 4|eiee20

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME TYPE 2

High match ACROOSTEOLYSIS


Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MESH MENDELIAN

More info about ACROOSTEOLYSIS

High match HENNEKAM SYNDROME


Hennekam syndrome is characterised by the association of lymphoedema, intestinal lymphangiectasia, intellectual deficit and facial dysmorphism.

HENNEKAM SYNDROME Is also known as lymphedema-lymphangiectasia-intellectual disability syndrome|lymphatic dysplasia, generalized|hennekam lymphangiectasia-lymphedema syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about HENNEKAM SYNDROME

High match YUNIS-VARON SYNDROME


Yunis-Varon syndrome is a severe autosomal recessive disorder characterized by skeletal defects, including cleidocranial dysplasia and digital anomalies, and severe neurologic involvement with neuronal loss. Enlarged cytoplasmic vacuoles are found in neurons, muscle, and cartilage. The disorder is usually lethal in infancy (summary by Campeau et al., 2013).

YUNIS-VARON SYNDROME Is also known as cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia|cleidocranial dysplasia-micrognathia-absent thumbs syndrome

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about YUNIS-VARON SYNDROME

High match JUVENILE MYELOMONOCYTIC LEUKEMIA


Juvenile myelomonocytic leukemia is an aggressive pediatric myelodysplastic syndrome (MDS)/myeloproliferative disorder (MPD) characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny (Loh et al., 2009). JMML constitutes approximately 30% of childhood cases of myelodysplastic syndrome and 2% of leukemia (Hasle et al., 1999). Although JMML is a progressive and often rapidly fatal disease without hematopoietic stem cell transplantation (HSCT), some patients have been shown to have a prolonged and stable clinical course without HSCT (Niemeyer et al., 1997). Chronic myelomonocytic leukemia (CMML) is a similar disorder with later onset. Both JMML and CMML have a high frequency of mutations affecting the RAS signaling pathway and show hypersensitivity to stimulation with GM-CSF, which causes STAT5 (OMIM ) hyperphosphorylation (Loh et al., 2009). Genetic Heterogeneity of Juvenile Myelomonocytic LeukemiaIn up to 60% of cases of JMML, the RAS/MAPK pathway is deregulated due to somatic mutations in the PTPN11 (OMIM ), KRAS (OMIM ), and NRAS (OMIM ) genes. Additionally, both germline and somatic mutations in the CBL gene have been found in patients with JMML, indicating a frequency of 10 to 15% of JMML patients overall (Loh et al., 2009). Somatic disruptions of the GRAF gene (ARHGAP26 ) have also been found in patients with JMML.About 10 to 15% of JMML cases arise in children with neurofibromatosis type I (NF1 ) due to germline mutations in the NF1 gene (OMIM ). In addition, patients with Noonan syndrome (NS1, {163950}; NS3, {609942}) or Noonan syndrome-like disorder (NSLL ) due to germline mutations in the PTPN11, KRAS2, and CBL genes, respectively, also have an increased risk of developing JMML. Genetic Heterogeneity of Chronic Myelomonocytic LeukemiaSomatic mutations in the CBL, ASXL1 (OMIM ), TET2 (OMIM ), and SF3B1 (OMIM ) genes have been found in patients with CMML.

JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as juvenile chronic myelomonocytic leukemia|jmml|leukemia, juvenile myelomonocytic

Related symptoms:

  • Generalized hypotonia
  • Abnormal facial shape
  • Anemia
  • Anteverted nares
  • Splenomegaly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about JUVENILE MYELOMONOCYTIC LEUKEMIA

High match TRANSALDOLASE DEFICIENCY


Transaldolase deficiency is an inborn error of the pentose phosphate pathway that presents in the neonatal or antenatal period with hydrops fetalis, hepatosplenomegaly, hepatic dysfunction, thrombocytopenia, anemia, and renal and cardiac abnormalities.

TRANSALDOLASE DEFICIENCY Is also known as taldo deficiency|eyaid syndrome

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Failure to thrive
  • Abnormal facial shape
  • Low-set ears


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about TRANSALDOLASE DEFICIENCY

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

Symptoms // Phenotype % cases
Abnormal facial shape Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
Low-set ears Common - Between 50% and 80% cases
Hypertelorism Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Depressed nasal bridge

Uncommon Symptoms - Between 30% and 50% cases


Ventricular septal defect Micrognathia Failure to thrive Anemia Polyhydramnios Edema Hearing impairment Macrocephaly Microtia Wide nose Global developmental delay Hydrops fetalis Generalized hypotonia Patent ductus arteriosus Intellectual disability Thin vermilion border Short stature Growth delay Atrial septal defect Wide nasal bridge Intrauterine growth retardation Long philtrum Scoliosis Microcephaly High palate Respiratory distress Retrognathia Hepatosplenomegaly Thickened skin Decreased skull ossification Prominent occiput Cleft palate Synophrys Cataract Short toe Short neck Hydrocephalus Abnormality of the dentition Hypospadias Downturned corners of mouth Recurrent respiratory infections Short distal phalanx of finger Coarse facial features Abnormality of the kidney Umbilical hernia Dolichocephaly Seizures Malar flattening Pancytopenia Premature birth Osteoporosis Short philtrum Cirrhosis Abnormality of the pinna Hepatic failure Hernia Thrombocytopenia Respiratory tract infection Proptosis Wide mouth Downslanted palpebral fissures Dry skin Delayed puberty

Rare Symptoms - Less than 30% cases


Iris coloboma Pleural effusion Telecanthus Pectus carinatum Micronodular cirrhosis Poor suck Abnormal heart morphology Joint hyperflexibility Intestinal malrotation Ascites Triangular face Abnormal bleeding Thick eyebrow Full cheeks Recurrent fractures Oligohydramnios Cardiomegaly Large fontanelles Skeletal dysplasia Arthralgia Neuronal loss in central nervous system Micropenis Small for gestational age Broad forehead Peripheral neuropathy Brachydactyly Myopia Sparse hair Vesicoureteral reflux Severe hydrops fetalis Abnormality of the liver Kyphosis Deep philtrum Headache Small nail Nonimmune hydrops fetalis Cardiorespiratory arrest Pachygyria Elevated hepatic transaminase Inguinal hernia Gingival overgrowth Jaundice Osteopenia Bowing of the long bones High, narrow palate Ichthyosis Upslanted palpebral fissure Pyloric stenosis Abnormality of eye movement Coarse hair Abnormality of the voice Open bite Syringomyelia Multiple renal cysts Patellar dislocation Clitoral hypertrophy Cerebellar hypoplasia Periodontitis Abnormality of dental morphology Mitral stenosis Osteolysis Biconcave vertebral bodies Cryptorchidism Platybasia Rough bone trabeculation Absent frontal sinuses Syndactyly Hypoplastic 5th lumbar vertebrae Partial absence of toe Hypoplasia of the corpus callosum Hypoalbuminemia Cognitive impairment Arnold-Chiari malformation Hepatic fibrosis Depressed nasal ridge Generalized hirsutism Bone pain Developmental regression Camptodactyly Apnea Diarrhea Neonatal hypotonia Sepsis Aortic valve stenosis Skin ulcer Short nose Hydronephrosis Low anterior hairline Respiratory insufficiency Hyperreflexia Abnormality of the fingernails Muscular hypotonia Spasticity Flexion contracture Ventriculomegaly Tetralogy of Fallot Hypertension Wormian bones Talipes equinovarus Sparse and thin eyebrow Flat face Short palm Hirsutism Short thumb Short ribs Short phalanx of finger Decreased antibody level in blood Sparse scalp hair Sparse axillary hair Coronal craniosynostosis Polysplenia Edema of the lower limbs Hypoplastic iliac wing Arteriovenous malformation Delayed eruption of teeth Hypoproteinemia Palpebral edema Short foot Generalized edema Protein-losing enteropathy Small hand Periorbital edema Rectal prolapse External ear malformation Increased number of teeth Primary hypothyroidism Narrow palate Lymphedema Lymphopenia Joint contracture of the hand Bilateral single transverse palmar creases Hypocalcemia Horseshoe kidney Spina bifida occulta Cutaneous finger syndactyly Abnormal intestine morphology Cutaneous syndactyly Oligodontia Reduced number of teeth Ectopic kidney Pericardial effusion Chylothorax Short chin Cerebellar vermis hypoplasia Hypotrichosis Irritability Postnatal growth retardation Protruding ear Abnormal cardiac septum morphology Hip dislocation Severe global developmental delay Toe syndactyly Thin upper lip vermilion Single transverse palmar crease Tapered finger Hypopigmentation of the skin Hypodontia Dandy-Walker malformation Pulmonary arterial hypertension Hypertrophic cardiomyopathy Macrotia Intestinal lymphangiectasia Thyroid lymphangiectasia Erysipelas Lymphangioma Pulmonary lymphangiectasia Conical incisor Benign neoplasm of the central nervous system Mild postnatal growth retardation Pericardial lymphangiectasia High forehead Pleural lymphangiectasia Feeding difficulties Abnormality of the skeletal system Cardiomyopathy Microphthalmia Agenesis of corpus callosum Abnormal oral mucosa morphology Flared metaphysis Sparse eyelashes Abnormality of the occipital bone Myelodysplasia Leukemia Aplasia of the distal phalanx of the hallux Aplasia/hypoplasia of the 1st metatarsal Aplasia of the distal phalanges of the hand Aplasia/Hypoplasia of the proximal phalanx of the hallux Narrow nasal base Aplasia/Hypoplasia of the scapulae Abnormality of dental structure Abnormal parietal bone morphology Myeloid leukemia Tapered toe Abnormal pelvis bone morphology Short proximal phalanx of hallux Shortening of all distal phalanges of the toes Aplasia of the 1st metacarpal Slender long bones with narrow diaphyses Aplasia/Hypoplasia of the hallux Bilateral external ear deformity Absent sternal ossification Broad secondary alveolar ridge Neurofibromas Acute myeloid leukemia Abnormality of the scapula Decreased liver function Increased serum bile acid concentration Abnormality of the clitoris Infra-orbital crease Functional respiratory abnormality Biventricular hypertrophy Premature skin wrinkling Dextrocardia Patent foramen ovale Cutis laxa Situs inversus totalis Wide anterior fontanel Facial hypotonia Telangiectasia Coarctation of aorta Asthma Chronic myelomonocytic leukemia Acute myelomonocytic leukemia Juvenile myelomonocytic leukemia Monocytosis Refractory anemia Myeloproliferative disorder Acute monocytic leukemia Generalized hypotrichosis Gingival recession Tented upper lip vermilion Absent thumb Severe failure to thrive Glossoptosis Inverted nipples Short clavicles Aplasia/Hypoplasia of the thumb Abnormality of blood and blood-forming tissues Thin ribs Severe hearing impairment Abnormality of digit Short finger Abnormality of finger Aplasia/Hypoplasia of the eyebrow Anonychia Smooth philtrum Metatarsus adductus Short middle phalanx of finger Rocker bottom foot Absent eyebrow Sparse eyebrow Abnormality of the urinary system Abnormality of pelvic girdle bone morphology Sclerocornea Hypoplastic labia majora Aplasia/Hypoplasia of the clavicles Increased nuchal translucency Hypoplastic facial bones Aplasia/Hypoplasia of the nails Aplasia/Hypoplasia of the distal phalanges of the hand Renal artery stenosis Renovascular hypertension Hypoplasia of the frontal lobes Multiple skeletal anomalies Aplasia/Hypoplasia of the middle phalanges of the hand Generalized neonatal hypotonia Short upper lip Wide cranial sutures Hypoplastic scapulae Arrhinencephaly Congenital microcephaly Aplastic clavicle Small earlobe Bilateral microphthalmos Premature loss of primary teeth Absent nipple Aplasia/Hypoplasia of the nipples Redundant neck skin Abnormality of the neck Lymphadenopathy Webbed neck Abnormality of the foot Intracranial hemorrhage Abnormality of coagulation Thoracic hypoplasia Multiple joint contractures Neonatal respiratory distress Akinesia Apathy Congenital contracture Ectropion Purpura Petechiae Knee flexion contracture Abnormality of the face Open mouth Progressive neurologic deterioration Interphalangeal joint contracture of finger Decreased fetal movement Cerebral calcification Underdeveloped nasal alae Metabolic acidosis Opisthotonus Hypokinesia Pulmonary hypoplasia Generalized hyperkeratosis Abnormality of the small intestine Abnormal pupillary function 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 Congenital ichthyosiform erythroderma Extramedullary hematopoiesis Pneumothorax Astrocytosis Abnormality of the spleen Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Overlapping fingers Fetal akinesia sequence Distal arthrogryposis Everted lower lip vermilion Arthrogryposis multiplex congenita Hydropic placenta Leukopenia Woolly hair Thrombocytosis Underdeveloped supraorbital ridges Iron deficiency anemia Curly hair Abnormality of the immune system Brittle hair Recurrent upper respiratory tract infections Aortic regurgitation Villous atrophy Abnormality of the hair Chronic diarrhea Fine hair Aciduria Bifid uvula Pulmonic stenosis Prominent forehead Immunodeficiency Frontal bossing Large forehead Abnormality of the pancreas Low-set, posteriorly rotated ears Humoral immunodeficiency Hyperkeratosis Hypertonia Dysphagia Skeletal muscle atrophy Strabismus Abnormalities of placenta or umbilical cord Large placenta Abnormality of iron homeostasis Galactosuria Hypermethioninemia Abnormal thrombocyte morphology Renal cortical microcysts Increased serum iron Hypergalactosemia Secretory diarrhea Intractable diarrhea Intermittent diarrhea Increased mean platelet volume Trichorrhexis nodosa Peripheral pulmonary artery stenosis Low voltage EEG Abnormality of the microglia Malabsorption Joint laxity Osteolytic defects of the phalanges of the hand Delayed cranial suture closure Glomerulonephritis Polycystic kidney dysplasia Dental malocclusion Hematuria Joint hypermobility Paresthesia Recurrent infections Flank pain Pain Abnormality of the pons Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Triangular mouth Duplicated collecting system Hemoglobinuria Seborrheic dermatitis Respiratory arrest Basilar impression Developmental stagnation Delayed skeletal maturation Narrow chest Finger syndactyly Camptodactyly of finger Craniosynostosis Intellectual disability, moderate Conductive hearing impairment Hypothyroidism Glaucoma Hyperactivity Pectus excavatum Premature loss of permanent teeth Midface retrusion Dilatation Intellectual disability, mild Congestive heart failure Intellectual disability, severe Epicanthus Sensorineural hearing impairment Osteolytic defects of the phalanges of the toes Basilar invagination Breech presentation High anterior hairline Enlarged fetal cisterna magna Pneumonia Hemolytic anemia Stroke Abnormality of the eye Muscular hypotonia of the trunk Respiratory failure Cerebral cortical atrophy Myoclonus Posteriorly rotated ears Encephalopathy Gliosis Obesity Absent speech Cerebral atrophy Cerebellar atrophy Abnormality of the mandible Hypoplasia of the zygomatic bone Abnormality of the skull Abnormality of cardiovascular system morphology Mild fetal ventriculomegaly Generalized myoclonic seizures Delayed myelination Pierre-Robin sequence Widely spaced teeth Epileptic spasms Central hypotonia Absent septum pellucidum Infantile spasms Large for gestational age Overfolded helix Scaling skin Redundant skin Elevated alkaline phosphatase Multicystic kidney dysplasia Epileptic encephalopathy Cerebral visual impairment Tall stature Postnatal microcephaly Inflammatory abnormality of the skin Hypsarrhythmia Generalized-onset seizure Limb undergrowth Overgrowth Microdontia Abnormality of glutamine metabolism



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