Microphthalmia, and Ulcerative colitis

Diseases related with Microphthalmia and Ulcerative colitis

In the following list you will find some of the most common rare diseases related to Microphthalmia and Ulcerative colitis that can help you solving undiagnosed cases.

Top matches:

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

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

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

Other less relevant matches:

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

Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of FA is hypersensitivity to DNA crosslinking agents and high frequency of chromosomal aberrations pointing to a defect in DNA repair (summary by Deakyne and Mazin, 2011).For additional general information and a discussion of genetic heterogeneity of Fanconi anemia, see {227650}.

Related symptoms:

  • Global developmental delay
  • Growth delay
  • Hypertelorism
  • Neoplasm
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about FANCONI ANEMIA, COMPLEMENTATION GROUP L; FANCL

Hermansky-Pudlak syndrome-4 (HPS4) is characterized by oculocutaneous albinism in association with easy bruising or a bleeding tendency and absence of platelet dense bodies. Some patients also exhibit pulmonary fibrosis and/or granulomatous colitis (Anderson et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Respiratory distress
  • Reduced visual acuity
  • Bruising susceptibility


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 4; HPS4

HERMANSKY-PUDLAK SYNDROME TYPE 8 Is also known as hps8

Related symptoms:

  • Nystagmus
  • Visual impairment
  • Myopia
  • Recurrent infections
  • Reduced visual acuity


SOURCES: ORPHANET OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME TYPE 8

Hermansky-Pudlak syndrome-5 (HPS5) is characterized by oculocutaneous albinism, a bleeding diathesis, and lack of platelet dense bodies. HPS5 appears to be a milder form of the syndrome because the complications present in other forms of HPS, such as pulmonary fibrosis, granulomatous colitis, and neutropenia, have not been reported in HPS5 patients (Ringeisen et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of Hermansky-Pudlak syndrome, see HPS1 (OMIM ).

Related symptoms:

  • Nystagmus
  • Neoplasm
  • Strabismus
  • Cataract
  • Thrombocytopenia


SOURCES: OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 5; HPS5

HERMANSKY-PUDLAK SYNDROME TYPE 7 Is also known as hps7

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Respiratory distress
  • Reduced visual acuity


SOURCES: ORPHANET OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME TYPE 7

Treacher-Collins syndrome is a congenital disorder of craniofacial development characterized by bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects.

TREACHER-COLLINS SYNDROME Is also known as franceschetti-klein syndrome|mandibulofacial dysostosis without limb anomalies

Related symptoms:

  • Global developmental delay
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about TREACHER-COLLINS SYNDROME

Top 5 symptoms//phenotypes associated to Microphthalmia and Ulcerative colitis

Symptoms // Phenotype % cases
Colitis Common - Between 50% and 80% cases
Strabismus Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Microphthalmia and Ulcerative colitis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Micrognathia Cleft palate Hydrocephalus Reduced visual acuity Ocular albinism Abnormal facial shape Global developmental delay Visual impairment Intellectual disability Iris coloboma Microtia Bruising susceptibility Albinism Menorrhagia Abnormality of the dentition Hypopigmentation of the skin Hypoplasia of the fovea Microcephaly Cataract Short stature Exotropia Hydronephrosis Patent ductus arteriosus Astigmatism Abnormality of cardiovascular system morphology Cleft upper lip Intrauterine growth retardation Cognitive impairment Low-set ears Ptosis Spina bifida Cleft lip Cryptorchidism Abnormal bleeding Pulmonary fibrosis Scoliosis Horizontal nystagmus High palate Abnormal lung morphology Wide nasal bridge Anemia Ataxia Hearing impairment Abnormality of the middle ear Retrognathia

Rare Symptoms - Less than 30% cases

Optic atrophy Chorea Ventricular septal defect Hernia Obesity Growth delay Abnormal heart morphology Inguinal hernia Respiratory distress Tracheoesophageal fistula Rectovaginal fistula Short neck Gastroesophageal reflux Hypoplasia of the iris Hypertonia Hypoplasia of the thymus Recurrent infections Delayed speech and language development Flexion contracture Thrombocytopenia Seizures Narrow mouth Midface retrusion Truncus arteriosus Myelomeningocele Hiatus hernia Wide mouth Umbilical hernia Facial cleft Hypothyroidism Open bite Abnormality of dental morphology Reduced number of teeth Arnold-Chiari malformation Abnormality of the kidney Abnormality of dental enamel Renal hypoplasia Camptodactyly of finger Hypoplasia of the corpus callosum Camptodactyly Abnormality of the pinna Abnormality of the foot Abdominal pain Brachydactyly Downslanted palpebral fissures Inflammation of the large intestine Frontal bossing Abnormality of the skeletal system Syndactyly Brachycephaly Spina bifida occulta Polydactyly Vertebral fusion Short ribs EEG abnormality Proteinuria Telecanthus Sparse hair Arachnodactyly Coloboma Papule Epicanthus Hypotrichosis Epistaxis Neutropenia Impaired platelet aggregation Spasticity Renal insufficiency Pes cavus Cerebellar hypoplasia Pneumonia Absent speech Cholelithiasis Dilatation Cerebral atrophy Vitiligo Macrotia Dystonia Vomiting Cerebellar atrophy Edema Ventriculomegaly Talipes equinovarus Hyperreflexia Glossoptosis Feeding difficulties Muscular hypotonia Generalized hypotonia Cerebral cortical atrophy Muscular hypotonia of the trunk Abnormality of the vertebral column Purpura Ascites Hypocalcemia Sleep disturbance Nephropathy Hematuria Inability to walk Talipes Poor speech Abnormality of eye movement Severe global developmental delay Nasal speech Bicuspid aortic valve Small for gestational age Prominent nasal bridge Retinopathy Schizophrenia Dysphasia Irritability Abnormality of the eye Parathyroid agenesis Type I truncus arteriosus Parathyroid hypoplasia Absent eyelashes Autoimmune thrombocytopenia Rheumatoid arthritis Eyelid coloboma Psoriasiform dermatitis Unilateral renal agenesis Thyroid hypoplasia Abnormality of the adrenal glands Acne Autoimmune hemolytic anemia Anterior segment developmental abnormality Seborrheic dermatitis Aplasia of the uterus Juvenile rheumatoid arthritis Abnormality of bone mineral density Posterior embryotoxon Tetany Multiple enchondromatosis Bipolar affective disorder Sclerocornea Branchial fistula Meningocele Hypoplasia of the zygomatic bone Graves disease Hypoparathyroidism Abnormality of the thymus 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 Vascular tortuosity Tetraplegia Interrupted aortic arch Duodenal stenosis Perisylvian polymicrogyria Impaired T cell function Right aortic arch Blepharospasm Alcoholism Femoral hernia Narrow internal auditory canal Perimembranous ventricular septal defect Retinal vascular tortuosity Scrotal hypoplasia Gliosis Respiratory insufficiency Bladder neoplasm Muscle weakness Optic nerve hypoplasia Depressed nasal bridge Intracranial hemorrhage Projectile vomiting Interstitial pulmonary abnormality Hypopigmentation of the fundus Thyroid dysgenesis Hyperopic astigmatism Failure to thrive Laryngospasm White hair Hypoplasia of the ear cartilage Encephalomalacia Albuminuria Malar flattening Skeletal dysplasia Conductive hearing impairment Congenital nephrotic syndrome Hypoplasia of the maxilla Hypoplasia of penis Abnormality of the intervertebral disk Axial dystonia Foam cells Abnormality of the gastrointestinal tract Choanal atresia Forearm undergrowth Myopia Restrictive ventilatory defect Pallor Hypermetropia Clubbing Esotropia Bronchiectasis Optic disc pallor Generalized hypopigmentation Moderate hypermetropia Hypoplastic sacrum Abnormality of chromosome stability Prolonged bleeding time Depressed nasal tip Chromosome breakage Esophageal atresia Absent thumb Hypoplasia of the radius Bone marrow hypocellularity Cafe-au-lait spot Full cheeks Anal atresia Leukemia Micropenis Diffuse mesangial sclerosis Diaphragmatic eventration Brain atrophy Low anterior hairline Severe muscular hypotonia Opacification of the corneal stroma Aspiration Joint contracture of the hand Progressive microcephaly Postnatal microcephaly Heterotopia Pachygyria Abnormality of the hair Small nail Hypsarrhythmia Spastic tetraplegia Hyperkinesis Nephrotic syndrome Hypotelorism Oligohydramnios Narrow forehead Sloping forehead Dandy-Walker malformation Prominent nose Premature birth Abnormal platelet granules Delayed myelination Limitation of joint mobility Lissencephaly Adducted thumb Encephalocele Aspiration pneumonia Narrow nasal ridge Hand clenching Periorbital edema Abnormal renal physiology Spastic ataxia Broad thumb Aqueductal stenosis Diffuse cerebral atrophy Tubular atrophy Esophagitis Mild microcephaly Adrenal hypoplasia Chronic kidney disease Proportionate short stature Abnormality of immune system physiology Congenital hypothyroidism Slender finger Abnormality of neuronal migration Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Flat occiput Preauricular skin tag Hypoplasia of the brainstem Glomerulosclerosis Hypoalbuminemia Amblyopia Ectopia cordis Renal dysplasia Odontogenic keratocysts of the jaw Agenesis of corpus callosum Alopecia Clinodactyly Blindness Dysphagia Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Ovarian fibroma Cardiac rhabdomyoma Weight loss Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Hyperhidrosis Joint laxity Abnormality of the sense of smell Intestinal malrotation Thin skin Split hand Interphalangeal joint contracture of finger Congenital diaphragmatic hernia Postaxial hand polydactyly Overgrowth Abnormality of the skin Nail dysplasia Dental malocclusion Short metacarpal Ectodermal dysplasia Broad nasal tip Erythema Hypodontia Delayed eruption of teeth Abnormality of skin pigmentation Facial asymmetry Toe syndactyly Pruritus Nail dystrophy Finger syndactyly Corneal opacity Cough Abnormal cardiac septum morphology Scarring Vertebral wedging Fibroma Subcutaneous nodule Carious teeth Muscle stiffness Bradycardia Hyperpigmentation of the skin Hemiparesis Abnormality of the ribs Cerebral calcification Hypotension Nevus Palmoplantar keratoderma Postaxial polydactyly Oral cleft Facial palsy Hemivertebrae Carcinoma Coarse facial features Kyphoscoliosis Mandibular prognathia Proptosis Glaucoma Visual loss Pectus excavatum Macrocephaly Dysarthria Motor delay Pain Hypogonadotrophic hypogonadism Neoplasm of the skin Hamartomatous polyposis Down-sloping shoulders Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Broad face Neoplasm of the endocrine system Abnormality of the neck Short 4th metacarpal Skin tags Fragile nails Relative macrocephaly Narrow nose Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Agenesis of permanent teeth Long fingers Basal cell carcinoma Milia Disproportionate tall stature Melanocytic nevus Nephritis Glomerulonephritis Omphalocele Hypoplasia of dental enamel Primary amenorrhea Absence of the sacrum Linear hyperpigmentation 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 Caudal appendage Ridged fingernail Patchy alopecia Apocrine hidrocystoma 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 Cholesteatoma Giant cell tumor of bone Hand oligodactyly Bulbous nose Short palpebral fissure Low posterior hairline Coarctation of aorta Tetralogy of Fallot Amenorrhea Specific learning disability Renal agenesis Bifid uvula High, narrow palate Hemolytic anemia Polymicrogyria Generalized tonic-clonic seizures Midclavicular hypoplasia Short philtrum Attention deficit hyperactivity disorder Autoimmunity Blepharophimosis Craniosynostosis Arthritis Posteriorly rotated ears Immunodeficiency Behavioral abnormality Atrial septal defect Fever Midclavicular aplasia Abnormal cornea morphology Ureteral duplication Telangiectasia Short metatarsal Short finger Hypermelanotic macule Supernumerary nipple Mild short stature Anophthalmia Stridor Chorioretinal coloboma Ectropion Ectopia lentis Hand polydactyly Brittle hair Dermal atrophy Macule Recurrent skin infections Oligodontia Renal hypoplasia/aplasia Multicystic kidney dysplasia Horseshoe kidney Congenital hip dislocation Pointed chin Increased body weight Abnormality of the nail Hoarse voice Short phalanx of finger Abnormality of epiphysis morphology Mixed hearing impairment Narrow nasal bridge Bifid nose Diastasis recti Skin nodule Anomalous pulmonary venous return Hypoplasia of teeth Cholangitis Labial hypoplasia Abnormality of the larynx Verrucae Lower limb asymmetry Hypoplastic pelvis Duodenal atresia Acute hepatic failure Stenosis of the external auditory canal Aplasia/Hypoplasia of the skin Aplasia/Hypoplasia of the lungs Split foot Foot polydactyly Aniridia Short clavicles Oligodactyly Ectrodactyly Aplasia cutis congenita Hypoplastic nipples Anteriorly placed anus Telangiectasia of the skin Abnormality of digit Short face


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