Epicanthus, and Ulcerative colitis

Diseases related with Epicanthus and Ulcerative colitis

In the following list you will find some of the most common rare diseases related to Epicanthus 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

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Medium match COG6-CGD

CDG2L is an autosomal recessive multisystem disorder apparent from birth or early infancy. It is characterized by poor growth, gastrointestinal and liver abnormalities, delayed psychomotor development, hypotonia, recurrent infections, hematologic abnormalities, increased bleeding tendency, and hyperhidrosis or hyperkeratosis. More variable features include nonspecific dysmorphic facial features and cardiac septal defects. The disorder often results in death in infancy or the first years of life (summary by Rymen et al., 2015).For a general discussion of CDGs, see CDG1A (OMIM ) and CDG2A (OMIM ).

COG6-CGD Is also known as congenital disorder of glycosylation type 2l|cdg syndrome type iil|cdg-iil|cdg2l|congenital disorder of glycosylation type iil|cdgiil|cdg iil

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COG6-CGD

Other less relevant matches:

Agammaglobulinemia, non-Bruton type (autosomal agammaglobulinemia) is a rare form of agammaglobulinemia, a primary immunodeficiency disease, and is characterized by variable immune dysfunction with frequent and recurrent bacterial infections and/or chronic diarrhea.

AUTOSOMAL AGAMMAGLOBULINEMIA Is also known as agammaglobulinemia, autosomal recessive, due to ighm defect|agammaglobulinemia, non-bruton type

Related symptoms:

  • Hypertelorism
  • Failure to thrive
  • High palate
  • Epicanthus
  • Fever


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL AGAMMAGLOBULINEMIA

Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Ehlers-Danlos syndromes (EDS) form a heterogeneous group of hereditary connective tissue diseases characterized by joint hyperlaxity, cutaneous hyperelasticity and tissue fragility. The dermatosparaxis type (formerly called EDS type VIIC) is marked by extremely fragile tissues, hyperextensible skin and easy bruising. Facial skin contains numerous folds, as in the cutis laxa syndrome. Umbilical or inguinal hernias have also been described. Dermatosparaxis is extremely rare and few cases only have been reported. The disease is transmitted as an autosomal recessive trait. It is due to N-terminal procollagen I peptidase deficiency causing abnormal maturation of the alpha1 (I) and alpha2 (I) collagen I pro-chains, in which the aminoterminal propeptide is incorrectly cleaved. The causative gene, ADAMTS2, has been localised to 5q23. The homozygous mutation Q225X was present in 80% of cases subjected to molecular analysis. There is no specific treatment available for this disease, but symptomatic management should be offered in a specialised centre.

EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE Is also known as ehlers-danlos syndrome, type vii, autosomal recessive|eds7c|dermatosparaxis|ehlers-danlos syndrome type 7c|eds viic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE

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

Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia characterized by supraorbital hyperostosis, undermodeling of the small bones, and small and large joint contractures, as well as extraskeletal developmental abnormalities, primarily of the cardiorespiratory system and genitourinary tract. Patients with FMD2 appear to have a propensity for keloid formation (summary by Wade et al., 2016).For a discussion of genetic heterogeneity of frontometaphyseal dysplasia, see FMD1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about FRONTOMETAPHYSEAL DYSPLASIA 2; FMD2

X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

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

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
High palate Uncommon - Between 30% and 50% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Failure to thrive Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Seizures Inflammation of the large intestine Talipes equinovarus Hypertelorism Micrognathia Strabismus Pneumonia Generalized hypotonia Scoliosis Retrognathia Ventriculomegaly Nystagmus Vomiting Visual impairment Depressed nasal bridge Hyperkeratosis Cataract Myopia Arachnodactyly Photophobia Muscular hypotonia Short stature Decreased muscle mass Edema Sepsis Recurrent respiratory infections Hernia Neonatal hypotonia Chronic diarrhea Growth delay Hip dysplasia Intrauterine growth retardation Malabsorption Colitis Diarrhea Recurrent infections Immunodeficiency Osteopenia Hypopigmentation of the skin Visual loss Pectus excavatum Cerebellar atrophy Abnormality of the dentition Low-set ears Microcephaly Hypoplasia of the corpus callosum Dilatation Downslanted palpebral fissures Scarring Wide nasal bridge Gastroesophageal reflux Hearing impairment Motor delay Cryptorchidism

Rare Symptoms - Less than 30% cases

Anemia Ocular albinism Aspiration pneumonia Iris hypopigmentation Adrenal hypoplasia Large fontanelles Delayed cranial suture closure Polymicrogyria Feeding difficulties in infancy Polyhydramnios Upslanted palpebral fissure Severe global developmental delay Dolichocephaly Talipes Hepatic steatosis Aspiration Ascites Gliosis Congestive heart failure Cholestasis Heterotopia Pachygyria Elevated hepatic transaminase Abnormality of the liver Hypopigmentation of hair Cerebral atrophy Joint dislocation Respiratory tract infection Prolonged bleeding time Delayed puberty Short palm Sleep disturbance Full cheeks Gastrointestinal hemorrhage Narrow forehead Oligohydramnios Coxa valga Gingival bleeding Blue sclerae Bicuspid aortic valve Premature birth Failure to thrive in infancy Hirsutism Bruising susceptibility Albinism Wide mouth Inguinal hernia Abnormality of the pinna Hiatus hernia Cerebral cortical atrophy Bronchiectasis Muscular hypotonia of the trunk Opacification of the corneal stroma Abnormal bleeding Decreased antibody level in blood Decreased fetal movement Hypohidrosis Fatigue Neutropenia Optic atrophy Recurrent pneumonia Esophagitis Camptodactyly Renal insufficiency Dystonia Flexion contracture Cognitive impairment Feeding difficulties Delayed speech and language development Intellectual disability, mild Osteoporosis Weight loss Fever Enterocolitis Proteinuria Pain EEG abnormality Basal cell carcinoma Carious teeth Polydactyly Melanocytic nevus Abdominal pain Microphthalmia Hydrocephalus Postaxial polydactyly Frontal bossing Macrocephaly Nevus Dysarthria Spasticity Syndactyly Blindness Hyperpigmentation of the skin Cleft palate Neoplasm Bradycardia Ataxia Hepatomegaly Hypogonadotrophic hypogonadism Generalized edema Echolalia Ulnar deviation of the hand Patent foramen ovale Subglottic stenosis Midface retrusion Hip contracture Soft skin Sclerotic vertebral endplates Delayed closure of the anterior fontanelle Large joint dislocations Gait disturbance Palpebral edema Osteomalacia Abnormal joint morphology Fragile skin Abnormality of metabolism/homeostasis Abnormality of skin pigmentation Fused cervical vertebrae Hypertonia Avascular necrosis of the capital femoral epiphysis Abnormality of subcutaneous fat tissue Dislocated radial head Pierre-Robin sequence Ptosis Hyperostosis Tracheal stenosis Abnormality of primary molar morphology Stridor Recurrent mandibular subluxations Frontal open bite Spontaneous neonatal pneumothorax Femoral hernia Corneal dystrophy Gingival hyperkeratosis Enlarged naris Blepharochalasis Hyperreflexia Soft, doughy skin Neurogenic bladder Premature rupture of membranes Excessive wrinkled skin Encephalomalacia Keratitis Aphasia Acromicria Recurrent infection of the gastrointestinal tract Joint hypermobility Micromelia Joint hyperflexibility Hip dislocation Cutaneous amyloidosis Joint stiffness Joint laxity Umbilical hernia Severe short stature Poor gross motor coordination Everted lower lip vermilion Almond-shaped palpebral fissure Hypopnea Narrow palm Psychotic episodes Hypoplastic labia minora Central adrenal insufficiency Temperature instability Triangular mouth Disseminated intravascular coagulation Erysipelas Thick vermilion border Hypodontia Dysphasia Cutis laxa Open bite Epiphora Rickets Hemiplegia Cerebellar hypoplasia Amyloidosis Intracranial hemorrhage Redundant skin Hyperextensible skin Mutism Coxa vara Microdontia Focal dystonia Corneal scarring Broad eyebrow Short toe Wide anterior fontanel Gingival overgrowth Short phalanx of finger Thin skin Hypertrichosis Limb undergrowth Urethral stricture Absent speech Pyloric stenosis Pes cavus Hypoplasia of the iris Freckling Severe vision loss Abnormality of visual evoked potentials Hematochezia Spastic ataxia Aqueductal stenosis Diffuse cerebral atrophy Tubular atrophy Abnormality of the optic nerve Abnormal thrombocyte morphology Mild microcephaly Proportionate short stature Abnormal renal physiology Abnormality of immune system physiology Impaired platelet aggregation Squamous cell carcinoma of the skin Congenital hypothyroidism Slender finger Abnormality of neuronal migration Clitoral hypoplasia Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Flat occiput Hypoplasia of the brainstem Glomerulosclerosis Restrictive ventilatory defect Periorbital edema Chronic kidney disease Epistaxis Hypoplasia of the ear cartilage Laryngospasm Thyroid dysgenesis Projectile vomiting Albuminuria Cardiomyopathy Congenital nephrotic syndrome Abnormality of the intervertebral disk Dyspnea Astigmatism Axial dystonia Epidermal acanthosis Abnormal lung morphology Hand clenching Thickened skin Long eyelashes Anorexia Amblyopia Diffuse mesangial sclerosis Abnormality of the hair Abnormality of dental enamel Acanthosis nigricans Diaphragmatic eventration Melanoma Narrow nasal ridge Pulmonary fibrosis Hypoalbuminemia Partial albinism Hypothyroidism Poor speech Delayed myelination Limitation of joint mobility Brain atrophy Chorea Tetraplegia Nephropathy Hematuria Congenital hip dislocation Finger clinodactyly Abnormality of the genitourinary system Inability to walk Abnormality of eye movement Dandy-Walker malformation Deep philtrum Short metatarsal Abnormality of the foot Small for gestational age Prominent nasal bridge Camptodactyly of finger Retinopathy Prominent supraorbital ridges Irritability Abnormality of the eye Abnormality of the kidney Macrotia Prominent nose Sloping forehead Menometrorrhagia Broad nasal tip Freckles in sun-exposed areas Sensorineural hearing impairment Patent ductus arteriosus Skeletal dysplasia Conductive hearing impairment Short philtrum Adducted thumb Hyperkinesis Pulmonic stenosis Thick eyebrow Lissencephaly Severe muscular hypotonia Bifid uvula Hypotelorism Joint contracture of the hand Short metacarpal Progressive microcephaly Webbed neck Postnatal microcephaly Bowing of the long bones Low anterior hairline Small nail Pointed chin Hypsarrhythmia Spastic tetraplegia Nephrotic syndrome Frontal upsweep of hair Genu valgum Anteverted ears Ovarian fibroma Abnormality of the cerebral white matter High forehead Delayed skeletal maturation Hypospadias Long philtrum Skeletal muscle atrophy Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Bridged sella turcica Plantar pits Odontogenic keratocysts of the jaw Abdominal distention Cardiac rhabdomyoma 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 Renal cyst Progressive visual loss Abnormality of the sense of smell Cerebral hypoplasia Cirrhosis Arthrogryposis multiplex congenita Abnormal cardiac septum morphology Aggressive behavior Hepatosplenomegaly Hyperhidrosis Thrombocytopenia Generalized cerebral atrophy/hypoplasia Calcific stippling Fetal ascites Renal cortical microcysts Chylous ascites Cerebral dysmyelination Peripheral demyelination Bile duct proliferation Corpus callosum atrophy Undetectable electroretinogram Scaphocephaly Primary adrenal insufficiency Cortical dysplasia Thoracic hypoplasia Aplasia/Hypoplasia of the cerebellum Hammertoe Decreased nerve conduction velocity Progressive hearing impairment Split hand Vertebral wedging Fibroma Pancytopenia Coloboma Spina bifida Exotropia Hemiparesis Abnormality of the ribs Cerebral calcification Hypotension Palmoplantar keratoderma Iris coloboma Oral cleft Cleft upper lip Hypotrichosis Papule Sparse hair Muscle stiffness Facial palsy Cleft lip Telecanthus Carcinoma Coarse facial features Kyphoscoliosis Mandibular prognathia Proptosis Glaucoma Brachycephaly Abnormality of the skeletal system Brachydactyly Short ribs Hemivertebrae Hamartomatous polyposis Fragile nails 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 Down-sloping shoulders Narrow nose Spina bifida occulta Sprengel anomaly Thoracic scoliosis Abnormality of the sternum Vertebral fusion Agenesis of permanent teeth Long fingers Milia Disproportionate tall stature Nephritis Glomerulonephritis Relative macrocephaly Neoplasm of the skin Focal-onset seizure Lymphopenia Poor fine motor coordination Psychosis Infantile muscular hypotonia Scrotal hypoplasia Sleep apnea Narrow palpebral fissure Spontaneous abortion Increased body weight Aortic valve stenosis Insulin resistance Clumsiness Primary amenorrhea Cutaneous photosensitivity Type II diabetes mellitus Nasal speech Abnormality of the cardiovascular system Amenorrhea Specific learning disability Febrile seizures Growth hormone deficiency Esotropia Tapered finger Short foot Small hand Downturned corners of mouth Infertility Hypermetropia Poor suck Precocious puberty Leukemia Pulmonary embolism Abdominal obesity Cor pulmonale Generalized hypopigmentation Hypothermia Chromosome breakage Hypoplasia of the fovea Acrocyanosis Oligomenorrhea Overweight Central hypotonia Abnormality of lipid metabolism Hypoventilation Striae distensae Hyperinsulinemia Impaired pain sensation Myeloid leukemia Narrow nasal bridge Polyphagia External genital hypoplasia Truncal obesity Adrenal insufficiency Skeletal muscle hypertrophy Glucose intolerance Large hands Emotional lability Radial deviation of finger Pruritus Stroke Hyperbilirubinemia Skin rash Osteomyelitis Chronic otitis media Encephalitis Recurrent skin infections Conjunctivitis Recurrent bacterial infections Meningitis Sinusitis Recurrent otitis media Hepatitis Dehydration Cough Arthritis Bronchitis Type II transferrin isoform profile Abnormal T cell morphology Gastrointestinal inflammation Macrovesicular hepatic steatosis Micronodular cirrhosis Impaired T cell function Proximal tubulopathy Abnormal cortical gyration Neurodevelopmental delay Combined immunodeficiency Loss of consciousness Abnormal intestine morphology Cellulitis Recurrent sinusitis Attention deficit hyperactivity disorder Hyporeflexia Apnea Abnormality of the nervous system Hypoglycemia Thin upper lip vermilion Narrow mouth Autism Micropenis Respiratory failure Hyperactivity Diabetes mellitus Hypogonadism Prominent forehead Clinodactyly External ear malformation Obesity Short nose Kyphosis Behavioral abnormality Myopathy Intellectual disability, severe Hypertension Recurrent enteroviral infections Crohn's disease B lymphocytopenia Verrucae Agammaglobulinemia Generalized reticulate brown pigmentation


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