Ptosis, and Inflammation of the large intestine

Diseases related with Ptosis and Inflammation of the large intestine

In the following list you will find some of the most common rare diseases related to Ptosis and Inflammation of the large intestine that can help you solving undiagnosed cases.


Top matches:

Medium match HIRSCHSPRUNG DISEASE


Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon.

HIRSCHSPRUNG DISEASE Is also known as hscr|aganglionic megacolon|congenital intestinal aganglionosis|hirschsprung disease|megacolon, aganglionic|mgc

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: ORPHANET OMIM MENDELIAN

More info about HIRSCHSPRUNG DISEASE

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 30; MRD30

Low match POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1


Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

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Other less relevant matches:

Low match DIGEORGE SYNDROME; DGS


DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. Disturbance of cervical neural crest migration into the derivatives of the pharyngeal arches and pouches can account for the phenotype. Most cases result from a deletion of chromosome 22q11.2 (the DiGeorge syndrome chromosome region, or DGCR). Several genes are lost including the putative transcription factor TUPLE1 which is expressed in the appropriate distribution. This deletion may present with a variety of phenotypes: Shprintzen, or velocardiofacial, syndrome (VCFS ); conotruncal anomaly face (or Takao syndrome); and isolated outflow tract defects of the heart including tetralogy of Fallot, truncus arteriosus, and interrupted aortic arch. A collective acronym CATCH22 has been proposed for these differing presentations. A small number of cases of DGS have defects in other chromosomes, notably 10p13 (see {601362}). In the mouse, a transgenic Hox A3 (Hox 1.5) knockout produces a phenotype similar to DGS as do the teratogens retinoic acid and alcohol.

DIGEORGE SYNDROME; DGS Is also known as hypoplasia of thymus and parathyroids|chromosome 22q11.2 deletion syndrome|third and fourth pharyngeal pouch syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about DIGEORGE SYNDROME; DGS

Low match FOCAL DERMAL HYPOPLASIA


Goltz syndrome or focal dermal hypoplasia is characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.

FOCAL DERMAL HYPOPLASIA Is also known as dhof|goltz syndrome|goltz-gorlin syndrome|fodh

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FOCAL DERMAL HYPOPLASIA

Low match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Low match LOEYS-DIETZ SYNDROME 1; LDS1


The Loeys-Dietz syndrome (LDS) is an autosomal dominant aortic aneurysm syndrome with widespread systemic involvement. As defined by Loeys et al. (2006), the disorder is characterized by the triad of arterial tortuosity and aneurysms, hypertelorism, and bifid uvula or cleft palate. Some patients have craniofacial involvement consisting of cleft palate, craniosynostosis, or hypertelorism. Bifid uvula may also be present. The natural history is characterized by aggressive arterial aneurysms and a high rate of pregnancy-related complications.LDS is also associated with immunologic-related disorders: approximately one-third of affected individuals exhibit food allergies, in contrast to a prevalence of 6 to 8% in the general population, and LDS patients have an increased prevalence of asthma, rhinitis, and eczema (summary by MacCarrick et al., 2014). NomenclatureIn initial reports, LDS patients, defined as those with mutations in TGFBR1 or TGFBR2, were stratified into 2 types, depending on severity of craniofacial features (type 1) or cutaneous features (type 2) (MacCarrick et al., 2014). Given that vascular disease is the major concern in LDS irrespective of the severity of systemic features, a revised nosology was proposed with sequential numbering corresponding to the gene mutant in each group (see below). Genetic Heterogeneity of Loeys-Dietz SyndromeLDS1 is caused by mutation in the TGFBR1 gene. LDS2 (OMIM ) is caused by mutation in the TGFBR2 gene (OMIM ). LDS3 (OMIM ), which is associated with early-onset osteoarthritis, is caused by mutation in the SMAD3 gene (OMIM ). LDS4 (OMIM ) is caused by mutation in the TGFB2 gene (OMIM ). LDS5 (OMIM ) is caused by mutation in the TGFB3 gene (OMIM ). ReviewsMacCarrick et al. (2014) provided a review of LDS, stating that there are no specific clinical criteria for the diagnosis, which is confirmed by molecular testing. They proposed that mutation in any of the 4 genes, TGFBR1, TGFBR2, SMAD3, or TGFB2, in combination with arterial aneurysm or dissection or a family history of documented LDS, should be sufficient to establish the diagnosis. The authors noted that rapidly progressive aortic aneurysmal disease is a distinct feature of LDS, and they discussed management strategies for cardiovascular issues as well as other complications of LDS.

LOEYS-DIETZ SYNDROME 1; LDS1 Is also known as aat5|aortic aneurysm, familial thoracic 5|loeys-dietz aortic aneurysm syndrome|furlong syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 1; LDS1

Low match OCCIPITAL HORN SYNDROME


Occipital horn syndrome (OHS) is a mild form of Menkes disease (MD, see this term), a syndrome characterized by progressive neurodegeneration and connective tissue disorders due to a copper transport defect.

OCCIPITAL HORN SYNDROME Is also known as eds ix, formerly|eds ix|ehlers-danlos syndrome type ix|ehlers-danlos syndrome type 9|x-linked cutis laxa|ehlers-danlos syndrome, occipital horn type, formerly|eds9, formerly|cutis laxa, x-linked, formerly

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about OCCIPITAL HORN SYNDROME

Low match GALLOWAY-MOWAT SYNDROME


Galloway syndrome is characterized by the association of nephrotic syndrome and central nervous system anomalies.

GALLOWAY-MOWAT SYNDROME Is also known as nephrosis-neuronal dysmigration syndrome|spinocerebellar ataxia, autosomal recessive 5, formerly|microcephaly, hiatal hernia, and nephrotic syndrome|scar5, formerly|galloway syndrome|cerebellar ataxia with mental retardation, optic atrophy, and skin abnor

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about GALLOWAY-MOWAT SYNDROME

Low match MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C


Congenital myasthenic syndrome associated with AChR deficiency is a disorder of the postsynaptic neuromuscular junction (NMJ) clinically characterized by early-onset muscle weakness with variable severity. Electrophysiologic studies show low amplitude of the miniature endplate potential (MEPP) and current (MEPC) resulting from deficiency of AChR at the endplate. Treatment with acetylcholinesterase inhibitors or amifampridine may be helpful (summary by Engel et al., 2015).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Ptosis
  • High palate
  • Feeding difficulties


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY; CMS3C

Top 5 symptoms//phenotypes associated to Ptosis and Inflammation of the large intestine

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
High palate Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ptosis and Inflammation of the large intestine. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Hernia Short stature Generalized hypotonia Hiatus hernia Inguinal hernia Cleft palate Flexion contracture Dilatation Seizures Microcephaly Abnormal facial shape Hearing impairment Hydrocephalus Talipes equinovarus Abnormality of the pinna Retrognathia Umbilical hernia Growth delay Ectopia lentis Hydronephrosis Joint laxity Camptodactyly Delayed speech and language development Gastroesophageal reflux Microphthalmia Esophagitis Exotropia Dysphagia Abnormality of the skeletal system Bifid uvula Arnold-Chiari malformation Arachnodactyly Low-set ears Pectus carinatum Ventricular septal defect Dolichocephaly Feeding difficulties Bruising susceptibility Blue sclerae Cognitive impairment Pes planus Patent ductus arteriosus Muscular hypotonia Downslanted palpebral fissures Joint contracture of the hand Neoplasm Strabismus Soft skin

Rare Symptoms - Less than 30% cases


Spina bifida Chorea Bicuspid aortic valve Specific learning disability Truncus arteriosus Obesity Posteriorly rotated ears Abnormal heart morphology High, narrow palate Iris coloboma Microtia Craniosynostosis Abnormality of the kidney Cleft lip Hypothyroidism Clinodactyly Myelomeningocele Hypoplasia of the iris Motor delay Proptosis Kyphoscoliosis Small for gestational age Long face Joint hypermobility Mitral valve prolapse Osteoarthritis Mitral regurgitation Abnormality of the sternum Aortic root aneurysm Spondylolisthesis Arterial tortuosity Ascending aortic dissection Short clavicles Graves disease Abnormality of the dentition Pectus excavatum Abnormality of the middle ear Nystagmus Brachydactyly Intrauterine growth retardation Optic atrophy Scarring Renal insufficiency Abnormal cardiac septum morphology Camptodactyly of finger Abnormality of the foot Facial asymmetry Overgrowth Postaxial hand polydactyly Abnormality of cardiovascular system morphology Femoral hernia Hypertonia Dental malocclusion Muscle weakness Wide mouth Intellectual disability, mild Behavioral abnormality Atrial septal defect Flat occiput Adducted thumb Increased body weight Sloping forehead Prominent nasal bridge Recurrent infections Weight loss Abdominal pain Diarrhea Vomiting Myopathy Fever Spasticity Failure to thrive Ataxia Immunodeficiency Midface retrusion Psoriasiform dermatitis Hypoplasia of the corpus callosum Anemia Eczema High anterior hairline Multiple suture craniosynostosis Cystic medial necrosis Long thorax Dural ectasia Unilateral ptosis Thoracic aortic aneurysm Ascending tubular aorta aneurysm Dermal translucency Long toe Sagittal craniosynostosis Scaphocephaly Narrow nose Pulmonary artery aneurysm Dilatation of the cerebral artery Rhinitis Atrophic scars Disproportionate tall stature Hallux valgus Myopathic facies Aortic aneurysm Microretrognathia Joint dislocation Finger clinodactyly Asthma Hand clenching Sleep disturbance Descending thoracic aorta aneurysm Narrow chest Large fontanelles Abnormality of the face Recurrent urinary tract infections Cholestasis Hepatitis Cerebral calcification Convex nasal ridge Hip dysplasia Short palm Joint hyperflexibility Genu valgum Platyspondyly Thin vermilion border Hip dislocation Jaundice Osteopenia High forehead Osteoporosis Periorbital edema Long philtrum Kyphosis Intellectual disability, severe Skeletal muscle atrophy Biconvex vertebral bodies Bicuspid pulmonary valve Generalized arterial tortuosity Narrow nasal ridge Broad forehead Smooth philtrum Spastic tetraplegia Tall stature Albuminuria Encephalomalacia Hypoplasia of the ear cartilage Laryngospasm Syncope Thyroid dysgenesis Nephrotic syndrome Hypotelorism Oligohydramnios Arthrogryposis multiplex congenita Atrioventricular block Projectile vomiting Fatigue Delayed myelination Neonatal hypotonia Narrow forehead Dandy-Walker malformation Brachycephaly Hyporeflexia Prominent nose Respiratory insufficiency Facial palsy Premature birth Aortic regurgitation Patent foramen ovale Spastic ataxia Arterial dissection Skeletal dysplasia Diaphragmatic eventration Hypsarrhythmia Clinodactyly of the 5th finger Hypospadias Malar flattening Frontal bossing Myopia Increased arm span Cervical spine instability Bilateral coxa valga Diffuse mesangial sclerosis Cerebral hemorrhage Brain atrophy Cleft soft palate Axial dystonia Broad face Aortic dissection Abnormality of the intervertebral disk Congenital nephrotic syndrome Long palpebral fissure Celiac disease Limitation of joint mobility Reduced subcutaneous adipose tissue Decreased muscle mass Abnormal renal physiology Dental crowding Chronic diarrhea Abnormality of esophagus physiology Edema Ventriculomegaly Hyperreflexia Epicanthus Visual impairment Cataract Humerus varus Carotid artery tortuosity Aortic rupture Hyperkinesis Chronic kidney disease Ureteral obstruction Dystonia Persistent open anterior fontanelle Limited knee extension Bladder carcinoma Pelvic bone exostoses Hypoalbuminemia Rudimentary to absent tibiae Aplasia/hypoplasia of the humerus Ascites Capitate-hamate fusion Abnormality of the pubic bone Large iliac wings Broad clavicles Cerebellar atrophy Cerebral atrophy Synostosis of joints Irritability Hematuria Inability to walk Heterotopia Talipes Postnatal microcephaly Progressive microcephaly Aspiration Poor speech Opacification of the corneal stroma Abnormality of eye movement Severe global developmental delay Retinopathy Abnormality of the eye Absent speech Muscular hypotonia of the trunk Proteinuria EEG abnormality Macrotia Severe muscular hypotonia Lissencephaly Cerebral cortical atrophy Pes cavus Pachygyria Cerebellar hypoplasia Hypopigmentation of the skin Pneumonia Long neck Glomerulosclerosis Nephropathy Rickets Adrenal hypoplasia Acute kidney injury Short humerus Aspiration pneumonia Dislocated radial head Mild microcephaly Tubular atrophy Osteomalacia Orthostatic hypotension Limited elbow extension Delayed cranial suture closure Bilateral ptosis Abnormality of immune system physiology Small nail Poor suck Diffuse cerebral atrophy Aqueductal stenosis Hyperextensible skin Coarse hair Cutis laxa Osteolysis Coxa vara Wormian bones Coxa valga Narrow face Proportionate short stature Exostoses Absent tibia Tetraplegia Abnormality of the sense of smell Keloids Gastroparesis Aplastic clavicle Thick hair Venous insufficiency Bladder diverticulum Abnormality of fibula morphology Avascular necrosis of the capital femoral epiphysis Prominent superficial veins Broad ribs Generalized joint laxity Abnormality of the wrist Carpal synostosis Hypoplasia of the brainstem Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Gliosis Premature skin wrinkling Abnormality of neuronal migration Hypothermia Slender finger Congenital hypothyroidism Down-sloping shoulders Atypical scarring of skin Abnormality of the skull Redundant skin Aplasia/Hypoplasia of the lungs Midclavicular aplasia Purpura Vitiligo Bipolar affective disorder Posterior embryotoxon Autoimmune thrombocytopenia Autoimmune hemolytic anemia Acne Unilateral renal agenesis Rheumatoid arthritis Cholelithiasis Nasal speech Schizophrenia Hypocalcemia Meningocele Amblyopia Broad thumb Renal dysplasia Primary amenorrhea Short palpebral fissure Low posterior hairline Coarctation of aorta Tetralogy of Fallot Amenorrhea Renal agenesis Hemolytic anemia Polymicrogyria Bulbous nose Hypoparathyroidism Sclerocornea Generalized tonic-clonic seizures Vascular tortuosity Blindness Cryptorchidism Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Sacral meningocele Accommodative esotropia Esophoria Right aortic arch with mirror image branching Arteria lusoria Aplasia of the thymus Conotruncal defect Abnormality of the thymus Tetany Retinal vascular tortuosity Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Right aortic arch Alcoholism Perimembranous ventricular septal defect Interrupted aortic arch Aplasia of the uterus Hypoplasia of the thymus Anterior segment developmental abnormality Seborrheic dermatitis Juvenile rheumatoid arthritis Astigmatism Short philtrum Alopecia Intestinal obstruction Intestinal perforation Functional abnormality of the gastrointestinal tract Neoplasm of the thyroid gland Total colonic aganglionosis Anteverted ears Central hypoventilation Enterocolitis Intestinal polyposis Neoplasm of the endocrine system Heterochromia iridis Hypoventilation Long nose Malnutrition Failure to thrive in infancy Abnormality of enteric ganglion morphology Abnormal autonomic nervous system physiology Low anterior hairline Long eyelashes Aganglionic megacolon Sepsis Abdominal distention Thick eyebrow Nausea and vomiting Lethargy Hypogonadism Constipation Pain Sensorineural hearing impairment Total intestinal aganglionosis Autism Attention deficit hyperactivity disorder Leukocytosis Autoimmunity Blepharophimosis Telecanthus Arthritis Narrow mouth Thrombocytopenia Short neck Pharyngitis Gastrointestinal inflammation Pyelonephritis Recurrent pharyngitis Severe failure to thrive Progressive proximal muscle weakness Progressive muscle weakness Aggressive behavior Lymphadenopathy Dilated cardiomyopathy Abnormality of the liver Myalgia Proximal muscle weakness Elevated hepatic transaminase Hepatosplenomegaly Elevated serum creatine phosphokinase Congestive heart failure Cardiomyopathy Hepatomegaly Mood swings Autistic behavior Syndactyly Agenesis of corpus callosum Midclavicular hypoplasia Stenosis of the external auditory canal Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Abnormality of the larynx Verrucae Ulcerative colitis Lower limb asymmetry Hypoplastic pelvis Duodenal atresia Acute hepatic failure Diastasis recti Split foot Ureteral duplication Foot polydactyly Aniridia Oligodactyly Ectrodactyly Facial cleft Aplasia cutis congenita Hypoplastic nipples Anteriorly placed anus Telangiectasia of the skin Abnormality of digit Aplasia/Hypoplasia of the skin Narrow nasal bridge Vertebral fusion Bifid nose Hand oligodactyly Macule Caudal appendage Giant cell tumor of bone Apocrine hidrocystoma Cholesteatoma Linear hyperpigmentation Ectopia cordis Bifid ureter Abnormal adipose tissue morphology Abnormality of the pulmonary vasculature Nonproductive cough Osteopathia striata Cleft ala nasi Abnormality of the mediastinum Abnormal palmar dermatoglyphics Ridged fingernail Abnormal cornea morphology Absence of the sacrum Patchy alopecia Upper limb asymmetry Reticular hyperpigmentation Absent fingernail Foot oligodactyly Rough bone trabeculation Absent toenail Clitoral hypoplasia Inspiratory stridor Papilloma Total anomalous pulmonary venous return Abnormality of hair texture Colitis Mixed hearing impairment Hyperhidrosis Abnormality of skin pigmentation Thin skin Split hand Renal hypoplasia Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Abnormality of the skin Nail dysplasia Short metacarpal Ectodermal dysplasia Intestinal malrotation Broad nasal tip Hypodontia Delayed eruption of teeth Cleft upper lip Subcutaneous nodule Toe syndactyly Hypotrichosis Pruritus Nail dystrophy Papule Finger syndactyly Corneal opacity Cough Coloboma Sparse hair Erythema Reduced visual acuity Polydactyly Omphalocele Hypoplasia of dental enamel Short finger Reduced number of teeth Hypermelanotic macule Supernumerary nipple Open bite Mild short stature Anophthalmia Abnormality of dental morphology Stridor Chorioretinal coloboma Ectropion Hand polydactyly Brittle hair Short metatarsal Dermal atrophy Recurrent skin infections Telangiectasia Oligodontia Renal hypoplasia/aplasia Spina bifida occulta Abnormality of dental enamel Multicystic kidney dysplasia Horseshoe kidney Congenital hip dislocation Pointed chin Abnormality of the nail Short ribs Hoarse voice Short phalanx of finger Abnormality of epiphysis morphology Limb muscle weakness



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