Autoimmunity, and Short palpebral fissure

Diseases related with Autoimmunity and Short palpebral fissure

In the following list you will find some of the most common rare diseases related to Autoimmunity and Short palpebral fissure that can help you solving undiagnosed cases.


Top matches:

Medium 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 PGM3-CDG


PGM3-CDG is a rare congenital disorder of glycosylation caused by mutations in the PGM3 gene and characterized by neonatal to childhood onset of recurrent bacterial and viral infections, inflammatory skin diseases, atopic dermatitis and atopic diatheses, and marked serum IgE elevation. Early neurologic impairment is evident including developmental delay, intellectual disability, ataxia, dysarthria, sensorineural hearing loss, myoclonus and seizures.

PGM3-CDG Is also known as cid due to pgm3 deficiency|immunodeficiency with hyper ige and cognitive impairment|pgm3-related congenital disorder of glycosylation|combined immunodeficiency due to pgm3 deficiency|immunodeficiency-vasculitis-myoclonus syndrome|ivms

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about PGM3-CDG

Low match FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3


The focal dermal dysplasias (FFDDs) are a group of related developmental defects characterized by bitemporal or preauricular skin lesions resembling aplasia cutis congenita. FFFD3 is an autosomal recessive disorder characterized by bitemporal skin lesions with variable facial findings, including thin and puckered periorbital skin, distichiasis and/or absent eyelashes, upslanting palpebral fissures, a flat nasal bridge with a broad nasal tip, large lips, and redundant facial skin (summary by Slavotinek et al., 2013).FFDD2 (OMIM ) is characterized by the same facial features as FFDD3, but the inheritance is autosomal dominant.For a classification and a discussion of genetic heterogeneity of FFDD, see FFDD1 (OMIM ).

FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3 Is also known as focal facial dermal dysplasia, type ii, formerly|bitemporal forceps marks syndrome|facial ectodermal dysplasia|setleis syndrome

Related symptoms:

  • Global developmental delay
  • Depressed nasal bridge
  • Upslanted palpebral fissure
  • Sparse hair
  • Scarring


SOURCES: OMIM MENDELIAN

More info about FOCAL FACIAL DERMAL DYSPLASIA 3, SETLEIS TYPE; FFDD3

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Other less relevant matches:

Low match ANTERIOR SEGMENT DYSGENESIS 1; ASGD1


Anterior segment dysgeneses (ASGD or ASMD) are a heterogeneous group of developmental disorders affecting the anterior segment of the eye, including the cornea, iris, lens, trabecular meshwork, and Schlemm canal. The clinical features of ASGD include iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface (summary by Cheong et al., 2016).Anterior segment dysgenesis is sometimes divided into subtypes including aniridia (see {106210}), Axenfeld and Rieger anomalies, iridogoniodysgenesis, Peters anomaly, and posterior embryotoxon (Gould and John, 2002).Some patients with ASGD1 have been reported with the Peters anomaly subtype.In its simplist form, Peters anomaly involves a central corneal opacity, but it may also involve adherent iris strands. Some patients have keratolenticular content or cataract. The underlying defects in this form of congenital corneal opacity reside in the posterior stroma, Descemet membrane, and corneal endothelium. The disorder results from abnormal migration or function of neural crest cells and may include abnormalities of other anterior segment structures, such as the lens and iris (summary by Withers et al., 1999).

ANTERIOR SEGMENT DYSGENESIS 1; ASGD1 Is also known as anterior segment mesenchymal dysgenesis|asmd|anterior segment ocular dysgenesis|asod

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Nystagmus
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ANTERIOR SEGMENT DYSGENESIS 1; ASGD1

Low match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Low match IMMUNODEFICIENCY 49; IMD49


IMMUNODEFICIENCY 49; IMD49 Is also known as severe combined immunodeficiency, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spasticity, and craniofacial abnormalities|scid, t cell-negative, b cell-positive, nk cell-positive, with intellectual disability, spastici

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about IMMUNODEFICIENCY 49; IMD49

Low match MOGS-CDG


MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1).

MOGS-CDG Is also known as glucosidase i deficiency|cdg-iib|cdgiib|cdg iib|carbohydrate deficient glycoprotein syndrome type iib|congenital disorder of glycosylation type 2b|cdg2b|glucosidase 1 deficiency|congenital disorder of glycosylation type iib|cdg syndrome type iib

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MOGS-CDG

Low match NOONAN SYNDROME 8; NS8


Noonan syndrome-8 is an autosomal dominant disorder characterized by short stature, distinctive facial features, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. A subset of patients show intellectual disabilities (summary by Aoki et al., 2013).For a phenotypic description and a discussion of genetic heterogeneity of Noonan syndrome, see NS1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 8; NS8

Low match THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME


THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay, microcephaly, moderate to severe intellectual disability and facial dysmorphism which includes tall forehead, high anterior hairline, short upslanting palpebral fissures, deep-set eyes and a long nose with a low-hanging columella. Additionally, congenital renal and cardiac malformations (such as horseshoe kidney, unilateral renal agenesis atrioventricular septal defects, patent ductus arteriosus), as well as corpus callosum dysplasia, may be associated.

THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME Is also known as microcephaly, mental retardation, and distinctive facies, with cardiac and genitourinary malformations|beaulieu-boycott-innes syndrome|bbis

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about THOC6-RELATED DEVELOPMENTAL DELAY-MICROCEPHALY-FACIAL DYSMORPHISM SYNDROME

Top 5 symptoms//phenotypes associated to Autoimmunity and Short palpebral fissure

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Abnormal facial shape Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Recurrent infections Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Autoimmunity and Short palpebral fissure. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Immunodeficiency Atrial septal defect Generalized hypotonia Hearing impairment Scoliosis Microcephaly Patent ductus arteriosus Abnormal heart morphology Abnormality of the dentition Hypertelorism Retrognathia Umbilical hernia Ventricular septal defect Delayed speech and language development High palate Cognitive impairment Blepharophimosis Short stature Graves disease Epicanthus Posterior embryotoxon Anal atresia Myopia Narrow mouth Upslanted palpebral fissure Bulbous nose Perimembranous ventricular septal defect Posteriorly rotated ears Low posterior hairline Cleft palate Narrow palpebral fissure Sensorineural hearing impairment Behavioral abnormality Failure to thrive Myopathic facies Hypoplasia of the corpus callosum Short neck Hemolytic anemia Psoriasiform dermatitis Anemia Unilateral renal agenesis Ptosis Renal agenesis

Rare Symptoms - Less than 30% cases


Conotruncal defect Retinal vascular tortuosity Duodenal stenosis Meningocele Impaired T cell function Right aortic arch Interrupted aortic arch Sclerocornea Aplasia of the uterus Aplasia of the thymus Seborrheic dermatitis Juvenile rheumatoid arthritis Myelomeningocele Truncus arteriosus Hypoparathyroidism Anterior segment developmental abnormality Abnormality of the sternum Right aortic arch with mirror image branching Hyperactivity Muscular hypotonia Absent speech Hernia Pulmonic stenosis Congenital cataract Cataract Eosinophilia Prominent nose Anxiety Velopharyngeal insufficiency Sacral meningocele Feeding difficulties Edema Severe combined immunodeficiency Leukopenia Lymphopenia Inflammatory abnormality of the skin Asthma Conductive hearing impairment Cryptorchidism Abnormal cardiac septum morphology Vitiligo Arteria lusoria Bipolar affective disorder Arthritis Amenorrhea Specific learning disability Chorea Bifid uvula Short philtrum Attention deficit hyperactivity disorder Autoimmune thrombocytopenia Hypothyroidism Primary amenorrhea Inguinal hernia Obesity Thrombocytopenia Abnormality of cardiovascular system morphology Hydrocephalus Fever Low-set ears Strabismus Micrognathia Tetralogy of Fallot Abnormality of the pinna Purpura Acne Hypocalcemia Rheumatoid arthritis Nasal speech Arnold-Chiari malformation Schizophrenia Bicuspid aortic valve Spina bifida Inflammation of the large intestine Autoimmune hemolytic anemia Cholelithiasis Renal dysplasia Endometriosis Platybasia Echolalia Abnormality of the endocrine system Pierre-Robin sequence Pulmonary artery atresia Delusions High anterior hairline Systemic lupus erythematosus Mood swings Paranoia Palmoplantar cutis laxa Giant platelets Chylothorax Mild microcephaly Psychotic episodes Central nervous system degeneration Vascular ring Perineal fistula Congenital conductive hearing impairment Hearing abnormality Submucous cleft hard palate Anal stenosis Psychosis Muscular ventricular septal defect Intellectual disability, severe Cerebellar atrophy Hypospadias Depressivity Dementia Aggressive behavior Mental deterioration Dysmetria Vesicoureteral reflux Underdeveloped nasal alae Peripheral demyelination Open mouth Unilateral lung agenesis Hallucinations Multicystic kidney dysplasia Holoprosencephaly Abnormality of the hand Dysdiadochokinesis Apathy Obsessive-compulsive behavior Hypoplasia of the brainstem Abnormality of the ear Left-to-right shunt Basal ganglia calcification Axonal loss Low hanging columella Agenesis of corpus callosum Unilateral primary pulmonary dysgenesis Curly hair Overlapping fingers Generalized edema Hand clenching Dental malocclusion Carious teeth Macrocephaly Downslanted palpebral fissures Cardiomyopathy Hyperkeratosis Polyhydramnios Hypertrophic cardiomyopathy Broad forehead Intellectual disability, mild Recurrent urinary tract infections High forehead Leukemia Webbed neck Abnormality of the cardiovascular system Ventricular hypertrophy Pleural effusion Left ventricular hypertrophy Hyperpigmentation of the skin Deeply set eye Aphakia Camptodactyly Relative macrocephaly Chronic constipation Hypoventilation Long nose Premature ovarian insufficiency Hyperextensible skin Severe global developmental delay Hirsutism Tetraplegia Narrow forehead Spastic tetraplegia Wormian bones Overlapping toe Natal tooth Pulmonary artery stenosis Hepatomegaly Optic atrophy Cerebral atrophy Thoracic scoliosis Abnormality of metabolism/homeostasis Constipation Alopecia Feeding difficulties in infancy Hepatic failure Wide nose Recurrent fractures Acute lymphoblastic leukemia Decreased antibody level in blood Horseshoe kidney Long eyelashes Pointed chin Prominent occiput Macular hypopigmentation Periorbital fullness Axenfeld anomaly Erythema Parathyroid agenesis Type I truncus arteriosus Ataxia Dysarthria Brachydactyly Abnormality of the skeletal system Hyporeflexia Recurrent respiratory infections Myoclonus Gastroesophageal reflux Abnormality of the nervous system Respiratory tract infection Neutropenia Decreased circulating parathyroid hormone level Sensory impairment Lymphoma Eczema Bronchiectasis Vasculitis Recurrent skin infections Glomerulonephritis Combined immunodeficiency Atopic dermatitis Allergic rhinitis Membranoproliferative glomerulonephritis Vasculitis in the skin Parathyroid hypoplasia Accommodative esotropia Cortical myoclonus Polymicrogyria Neoplasm Flexion contracture Hypertonia Microphthalmia Hydronephrosis Telecanthus Cleft lip Abnormality of the kidney Craniosynostosis Microtia Generalized tonic-clonic seizures Astigmatism Iris coloboma Esophoria High, narrow palate Coarctation of aorta Broad thumb Amblyopia Exotropia Tetany Hypoplasia of the thymus Femoral hernia Alcoholism Perisylvian polymicrogyria Abnormality of the middle ear Abnormality of the thymus Vascular tortuosity Autoimmune neutropenia Depressed nasal bridge Abnormality of the sense of smell Increased intraocular pressure Microcornea Abnormality of the genital system Opacification of the corneal stroma Aplasia/Hypoplasia of the corpus callosum Optic nerve hypoplasia Ectopia lentis Keratitis Keratoconus Keratoconjunctivitis sicca Aniridia Iris hypopigmentation Hypoplasia of the iris Corneal erosion Photophobia Ectopia pupillae Optic nerve coloboma Abnormality of the optic nerve Corneal neovascularization Peters anomaly Abnormality of the hypothalamus-pituitary axis Anterior synechiae of the anterior chamber Macular hypoplasia Posterior polar cataract Aplasia/Hypoplasia of the iris Rieger anomaly Polycoria Corneal opacity Glaucoma Sparse hair Multiple rows of eyelashes Scarring Pectus carinatum Thick vermilion border Single transverse palmar crease Broad nasal tip Ectodermal dysplasia Low anterior hairline Conjunctivitis Dermal atrophy Aplasia cutis congenita Absent eyelashes Distichiasis Absent lower eyelashes Visual impairment Aged leonine appearance Spasticity Long philtrum Thin upper lip vermilion Hypermetropia Unsteady gait Hypodontia Microdontia Hypsarrhythmia Oligodontia Delayed ability to walk Thin eyebrow Nystagmus Thin lower lip vermilion



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