Hepatomegaly, and Downturned corners of mouth

Diseases related with Hepatomegaly and Downturned corners of mouth

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

Top matches:

High 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

High match ROIFMAN SYNDROME

Roifman syndrome is a rare, genetic immuno-osseous dysplasia disorder characterized by pre- and post-natal growth retardation, hypotonia, borderline to moderate intellectual disability, retinal dystrophy, spondyloepiphyseal dysplasia (epiphyseal dysplasia, epiphyses ossification delay, vertebral changes) and skeletal anomalies (brachydactyly, fifth finger clinodactyly), as well as humeral immunodeficiency characterized by inability to generate specific antibodies and low circulating B-cells. Craniofacial dysmorphism, that typically inlcudes microcephaly, hypertelorism, long palpebral fissures, prominent eyelashes, a narrow, tubular, upturned nose with hypoplastic alae nasi, long philtrum and thin upper lip, are also associated.

ROIFMAN SYNDROME Is also known as spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome|spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about ROIFMAN SYNDROME

Johanson-Blizzard syndrome (JBS) is a multiple congenital anomaly characterized by exocrine pancreatic insufficiency, hypoplasia/aplasia of the nasal alae, hypodontia, sensorineural hearing loss, growth retardation, anal and urogenital malformations, and variable intellectual disability.

JOHANSON-BLIZZARD SYNDROME Is also known as jbs|nasal alar hypoplasia, hypothyroidism, pancreatic achylia, and congenital deafness

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about JOHANSON-BLIZZARD SYNDROME

Other less relevant matches:

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

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

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

The Cornelia de Lange syndrome (CDLS) is a multisystem malformation syndrome recognized primarily on the basis of characteristic facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, mental retardation and, in many cases, upper limb anomalies. However, there is wide clinical variability in this disorder, with milder phenotypes that may be difficult to ascertain on the basis of physical features (summary by Rohatgi et al., 2010).Boyle et al. (2015) provided a detailed review of CDLS, including clinical features, diagnosis, and genetic counseling. Genetic Heterogeneity of Cornelia de Lange SyndromeAbout 50 to 60% of the cases of CDLS are due to mutation in the NIPBL gene (Musio et al., 2006; Rohatgi et al., 2010).One X-linked form of CDLS (CDLS2 ) is caused by mutation in the SMC1A gene (OMIM ), which accounts for about 5% of cases. Two milder variants of Cornelia de Lange syndrome have been identified: CDLS3 (OMIM ), caused by mutation in the SMC3 gene (OMIM ), and CDLS4 (OMIM ), caused by mutation in the RAD21 gene (OMIM ). All 4 genes, NIPBL, SMC1A, SMC3, and RAD21, encode components of the cohesin complex. Another X-linked form, CDLS5 (OMIM ), is caused by mutation in the HDAC8 gene (OMIM ), the vertebrate histone deacetylase of SMC3.

CORNELIA DE LANGE SYNDROME 1; CDLS1 Is also known as typus degenerativus amstelodamensis|brachmann-de lange syndrome|cdl|de lange syndrome|cdls|bdls

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CORNELIA DE LANGE SYNDROME 1; CDLS1

Medium match PERLMAN SYNDROME

Perlman syndrome is characterized principally by polyhydramnios, neonatal macrosomia, bilateral renal tumours (hamartomas with or without nephroblastomatosis), hypertrophy of the islets of Langerhans and facial dysmorphism.

PERLMAN SYNDROME Is also known as nephroblastomatosis, fetal ascites, macrosomia, and wilms tumor|nephroblastomatosis-fetal ascites-macrosomia-wilms tumor syndrome|renal hamartomas, nephroblastomatosis, and fetal gigantism

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about PERLMAN SYNDROME

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 Downturned corners of mouth

Symptoms // Phenotype % cases
Long philtrum Common - Between 50% and 80% cases
Anteverted nares Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Micrognathia Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases

Hypertelorism

Common Symptoms - More than 50% cases

Microcephaly

Uncommon Symptoms - Between 30% and 50% cases

Hearing impairment

Common Symptoms - More than 50% cases

Global developmental delay

Uncommon Symptoms - Between 30% and 50% cases

Low-set ears

Common Symptoms - More than 50% cases

Hypospadias

Uncommon Symptoms - Between 30% and 50% cases

Wide nasal bridge

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Cleft palate Macrocephaly Inguinal hernia Narrow mouth Ventricular septal defect Short stature Hernia Scoliosis Downslanted palpebral fissures Failure to thrive Muscular hypotonia Intrauterine growth retardation Short nose Thrombocytopenia Depressed nasal bridge Abnormality of the dentition Synophrys Anemia Cryptorchidism Hypertension High palate Patent ductus arteriosus Ptosis Splenomegaly Strabismus Hepatic failure Thin vermilion border Edema Short neck Retrognathia Widely spaced teeth Hepatosplenomegaly Growth delay Flexion contracture Underdeveloped nasal alae Cerebral atrophy Clinodactyly Single transverse palmar crease Postnatal growth retardation Thin upper lip vermilion Pneumonia Clinodactyly of the 5th finger Short toe Polyhydramnios Cardiomegaly Wide nose Prominent occiput Telecanthus Myopia Cataract Hydrocephalus Headache Microdontia Intestinal malrotation Coarse facial features Dolichocephaly Low anterior hairline Hydronephrosis Thick eyebrow Upslanted palpebral fissure Short distal phalanx of finger Thickened skin Atrial septal defect Sensorineural hearing impairment Brachydactyly Posteriorly rotated ears Talipes equinovarus Arnold-Chiari malformation Thick upper lip vermilion Camptodactyly Full cheeks Ascites Webbed neck High, narrow palate Abnormality of the pinna Abnormality of the liver Prominent forehead Osteoporosis Elevated hepatic transaminase Hypoplasia of penis

Rare Symptoms - Less than 30% cases

Bowing of the long bones Open mouth Bone pain Recurrent fractures Iris coloboma Behavioral abnormality Pulmonic stenosis Smooth philtrum Highly arched eyebrow Dry skin Aortic valve stenosis Joint hyperflexibility Tapered finger Delayed puberty Arthralgia Pectus carinatum Respiratory distress Volvulus Opisthotonus Peripheral neuropathy Congenital diaphragmatic hernia Triangular face Kyphosis Pulmonary hypoplasia Proptosis Tented upper lip vermilion Hypertonia Recurrent respiratory infections Neoplasm Osteopenia Skeletal dysplasia Skin ulcer Proximal placement of thumb Umbilical hernia Ventriculomegaly Optic atrophy Abnormality of the skeletal system Absent speech Recurrent infections Cardiorespiratory arrest Large for gestational age Deep philtrum Hypoplasia of the corpus callosum Cerebellar atrophy Malar flattening Tall stature Overgrowth Cerebellar hypoplasia Spasticity Sepsis Ichthyosis Hypoplastic nipples Abnormality of eye movement Cerebral cortical atrophy Wide mouth Developmental regression Apnea Muscular hypotonia of the trunk Abnormality of the kidney Partial absence of toe Neonatal hypotonia Dental malocclusion Nystagmus Polycystic kidney dysplasia Generalized hirsutism Wormian bones Abnormality of the fingernails Osteolysis Coarse hair Abnormality of the voice Open bite Syringomyelia Respiratory tract infection Multiple renal cysts Patellar dislocation Periodontitis Decreased skull ossification Mitral stenosis Biconcave vertebral bodies Platybasia Rough bone trabeculation Absent frontal sinuses Hypoplastic 5th lumbar vertebrae Hyperreflexia Vesicoureteral reflux Epicanthus Delayed skeletal maturation Gingival overgrowth Conductive hearing impairment Hyperbilirubinemia Elevated alkaline phosphatase Portal hypertension Abdominal distention Delayed eruption of teeth Small for gestational age Abnormal cardiac septum morphology Joint laxity Micropenis Syndactyly Abnormal heart morphology Toe syndactyly Abnormality of cardiovascular system morphology Intellectual disability, severe Cardiomyopathy Pleural effusion Myoclonus Premature birth Agenesis of corpus callosum Immunodeficiency Vomiting Fatigue Increased mean platelet volume Specific learning disability Cholestasis Severe short stature Narrow forehead Microcornea Bulbous nose Cerebral calcification Renal cyst Mandibular prognathia Short sternum Peters anomaly Panhypopituitarism Gastroesophageal reflux Recurrent hypoglycemia Optic nerve coloboma Abnormality of the gastrointestinal tract Hypoplastic labia majora Hand oligodactyly Esophagitis Aspiration pneumonia Hiatus hernia Hypoglycemia Poor appetite Ectrodactyly Oligodactyly Dislocated radial head Weak cry Perimembranous ventricular septal defect Gastroparesis Phocomelia Left-to-right shunt Hypoplastic radial head Abnormality of the umbilicus Reduced renal corticomedullary differentiation Otitis media with effusion Malrotation of colon Duplication of internal organs Projectile vomiting Brachycephaly Hypertropia Supernumerary ribs Esophageal stenosis Hyperactivity Glaucoma Hypoplastic male external genitalia Curly eyelashes Autism Absent hand Limited elbow extension Abnormality of digit Ectopic kidney Polydactyly Choanal atresia Spontaneous abortion Elbow flexion contracture Increased body weight Astigmatism Aspiration Vertigo Long eyelashes Recurrent urinary tract infections Hypertrichosis Micromelia Cleft upper lip Low posterior hairline Renal hypoplasia Blue sclerae High myopia Hirsutism Talipes Small hand Otitis media Torticollis Hip dislocation Sleep disturbance Aggressive behavior 2-3 toe syndactyly Short middle phalanx of finger Cutis marmorata Tricuspid regurgitation Clubbing Self-injurious behavior Pyloric stenosis Proteinuria Short metatarsal Relative macrocephaly Hypertrophic cardiomyopathy Postaxial polydactyly Pallor Incoordination Autistic behavior Abnormality of the urinary system Craniosynostosis Hypoplasia of the radius Prominent nasal bridge Dysplastic tricuspid valve Steatorrhea Renal insufficiency Poor suck Petechiae Abnormality of coagulation Thoracic hypoplasia Multiple joint contractures Neonatal respiratory distress Akinesia Apathy Congenital contracture Ectropion Intracranial hemorrhage Purpura Congenital ichthyosiform erythroderma Knee flexion contracture Hydrops fetalis Abnormality of the face Progressive neurologic deterioration Depressed nasal ridge Interphalangeal joint contracture of finger Pancytopenia Decreased fetal movement Oligohydramnios Abnormal bleeding Hypokinesia Distal arthrogryposis Everted lower lip vermilion Hepatic necrosis Enlarged fetal cisterna magna Abnormality of the microglia Hydropic placenta Low voltage EEG 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 Abnormality of the spinal cord Fetal akinesia sequence Severe hydrops fetalis Generalized hyperkeratosis Everted upper lip vermilion Extramedullary hematopoiesis Pneumothorax Astrocytosis Abnormality of the spleen Abnormality of the larynx Congenital nonbullous ichthyosiform erythroderma Overlapping fingers Nonimmune hydrops fetalis Metabolic acidosis Arthrogryposis multiplex congenita High forehead Growth abnormality Hypoxemia Renal neoplasm Polysplenia Capillary hemangioma Enlarged kidney Hamartoma Neurodevelopmental delay Global brain atrophy Nephroblastoma Hyperinsulinemia Bilateral single transverse palmar creases Visceromegaly Hepatic fibrosis Renal dysplasia Status epilepticus Lumbar hyperlordosis Abnormality of the cardiovascular system Round face Macroglossia Flat face Hyperlordosis Deeply set eye Thickened helices Interrupted aortic arch Microtia Renal hamartoma Low-set, posteriorly rotated ears Jaundice Hyperkeratosis Respiratory insufficiency Dysphagia Skeletal muscle atrophy Prominent xiphoid process Distal ileal atresia Ileal atresia Nephrogenic rest Hypoplasia of the abdominal wall musculature Femoral hernia Naevus flammeus of the eyelid Abnormality of pancreas morphology Nephroblastomatosis Thymus hyperplasia Fetal ascites Abnormality of upper lip Lumbar scoliosis Long upper lip Pancreatic islet-cell hyperplasia Broad alveolar ridges Intestinal atresia Hyperhidrosis Retinal dysplasia Fever Pulmonary edema Eosinophilia Spondyloepiphyseal dysplasia Hypoplasia of the zygomatic bone Abnormality of the skull Partial agenesis of the corpus callosum Long palpebral fissure Hip contracture Irregular vertebral endplates Narrow nose Short digit Narrow palpebral fissure Humoral immunodeficiency Prominent eyelashes Noncompaction cardiomyopathy Irregular femoral epiphysis Biconvex vertebral bodies Cognitive impairment Dilatation Alopecia Diabetes mellitus Hypothyroidism Tachypnea Abnormality of the mandible Dilated cardiomyopathy Encephalopathy Stroke Severe generalized osteoporosis Foam cells with lamellar inclusion bodies Bilobate gallbladder Abnormality of the eye Lumbosacral meningocele Abnormality of the thoracic spine Respiratory failure Intellectual disability, mild Obesity Finger clinodactyly Hypogonadism Lymphadenopathy Tachycardia Retinal dystrophy Short metacarpal Eczema Recurrent otitis media Sinusitis Meningitis Recurrent pneumonia Cleft lip Hypotrichosis Abnormality of cholesterol metabolism Rectovaginal fistula Colonic diverticula Abnormality of the nares Uterus didelphys Frontal upsweep of hair Skin dimples Aplasia cutis congenita of scalp Abnormal vagina morphology Lacrimation abnormality Abnormality of the pancreas Hypoproteinemia Absent lacrimal punctum Abnormal hair pattern Calvarial skull defect Fair hair Exocrine pancreatic insufficiency Anal stenosis Facial cleft Hydroureter Hypopituitarism Anteriorly placed anus Glycosuria Increased VLDL cholesterol concentration Septate vagina Malabsorption Pointed chin Anal atresia Hypoplasia of the maxilla Generalized muscle weakness Growth hormone deficiency Convex nasal ridge Sparse scalp hair Cafe-au-lait spot Situs inversus totalis Abnormality of the nail Hypocalcemia Severe muscular hypotonia Anasarca Oligodontia Abnormality of the genitourinary system Clitoral hypertrophy Congenital sensorineural hearing impairment Dextrocardia Midline skin dimples over anterior/posterior fontanelles Hypoplasia of the primary teeth Urethrovaginal fistula Abnormality of the female genitalia Malrotation of small bowel Schistocytosis Cirrhosis Delayed speech and language development Pathologic fracture Nevus Sloping forehead Retinal detachment Horseshoe kidney Short philtrum Opacification of the corneal stroma Reduced visual acuity Midface retrusion Bilateral talipes equinovarus Biparietal narrowing Dandy-Walker malformation Prominent metopic ridge Ataxia Osteolytic defects of the phalanges of the toes Basilar invagination Premature loss of permanent teeth Basilar impression Flank pain Respiratory arrest Osteolytic defects of the phalanges of the hand Delayed cranial suture closure Renal agenesis Bilateral sensorineural hearing impairment Postaxial foot polydactyly Congenital nystagmus Feeding difficulties Eversion of lateral third of lower eyelids Flared nostrils Intestinal lymphangiectasia Macrothrombocytopenia Total anomalous pulmonary venous return Anomalous pulmonary venous return Protein-losing enteropathy Mild microcephaly Agenesis of permanent teeth Abnormality of the periventricular white matter Exotropia Abnormality of the sternum Pericardial effusion Overlapping toe Unilateral renal agenesis Postaxial hand polydactyly Sparse eyebrow Hypoalbuminemia Abnormal intestine morphology Progressive microcephaly Lymphedema Glomerulonephritis Meningocele Hemolytic anemia Hypsarrhythmia Scaling skin Redundant skin Butterfly vertebrae Multicystic kidney dysplasia Cerebral visual impairment Postnatal microcephaly Large fontanelles Inflammatory abnormality of the skin Small nail Generalized-onset seizure Ambiguous genitalia, male Limb undergrowth Neural tube defect Neuronal loss in central nervous system Epileptic encephalopathy Anisopoikilocytosis Cerebellar cortical atrophy Delayed myelination Gliosis Abnormal platelet morphology Generalized myoclonic seizures Overfolded helix Infantile spasms Hematuria Triangular mouth Joint hypermobility Paresthesia Myelomeningocele Intrahepatic cholestasis Acanthocytosis Pain Abnormality of the pons Birth length greater than 97th percentile Olfactory lobe agenesis Alveolar ridge overgrowth Micronodular cirrhosis Absent septum pellucidum Duplicated collecting system Hemoglobinuria Seborrheic dermatitis Breech presentation Developmental stagnation High anterior hairline Generalized osteoporosis Pierre-Robin sequence Epileptic spasms Central hypotonia Mild fetal ventriculomegaly


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Ventricular septal defect and Acute lymphoblastic leukemia, related diseases and genetic alterations Myopia and Hypothyroidism, related diseases and genetic alterations