Arthritis, and Short palpebral fissure

Diseases related with Arthritis and Short palpebral fissure

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


Top matches:

Medium match FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

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 CONGENITAL TUFTING ENTEROPATHY


Congenital Tufting Enteropathy is a rare congenital enteropathy presenting with early-onset severe and intractable diarrhea that leads to irreversible intestinal failure.

CONGENITAL TUFTING ENTEROPATHY Is also known as intestinal epithelial cell dysplasia|enteropathy, congenital tufting|ied|cte|intestinal epithelial dysplasia

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CONGENITAL TUFTING ENTEROPATHY

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Other less relevant matches:

Low match ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

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 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 X-LINKED RETICULATE PIGMENTARY DISORDER


X-linked reticulate pigmentary disorder is an extremely rare skin disease described in only four families to date and characterized in males by diffuse reticulate brown hyperpigmentated skin lesions developing in early childhood and a variety of systemic manifestations (recurrent pneumonia, corneal opacification, gastrointestinal inflammation, urethral stricture, failure to thrive, hypohidrosis, digital clubbing, and unruly hair and flared eyebrows), while in females, there is only cutaneous involvement with the development in early childhood of localized brown hyperpigmented skin lesions following the lines of Blaschko. This disease was first considered as a cutaneous amyloidosis, but amyloid deposits are an inconstant feature.

X-LINKED RETICULATE PIGMENTARY DISORDER Is also known as familial cutaneous amyloidosis|mental retardation, x-linked, with dystonic movements, ataxia, and seizures|pdr|mental retardation, x-linked, syndromic 1|x-linked cutaneous amyloidosis|xlpdr|mrx36|partington syndrome|partington disease|mrxs1|mental retarda

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED RETICULATE PIGMENTARY DISORDER

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 MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB


MRXSB is an X-linked dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features. Additional variable features include musculoskeletal abnormalities, seizures, acquired microcephaly, and feeding problems with poor overall growth. Only females are affected (summary by Bain et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB

Low match MICROCEPHALY-MICROMELIA SYNDROME; MIMIS


Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017).

Related symptoms:

  • Microcephaly
  • Growth delay
  • Micrognathia
  • Cleft palate
  • Low-set ears


SOURCES: OMIM MESH MENDELIAN

More info about MICROCEPHALY-MICROMELIA SYNDROME; MIMIS

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

Symptoms // Phenotype % cases
High palate Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Micrognathia

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape

Common Symptoms - More than 50% cases


Scoliosis

Uncommon Symptoms - Between 30% and 50% cases


Short neck Small for gestational age Generalized hypotonia Posteriorly rotated ears Inguinal hernia Cleft palate Cognitive impairment Ptosis Flexion contracture Hyperactivity Delayed speech and language development Nasal speech Talipes equinovarus Hearing impairment Kyphoscoliosis Underdeveloped nasal alae Craniosynostosis Atrial septal defect Bifid uvula Blepharophimosis Retrognathia Wide mouth Failure to thrive Joint contracture of the hand Telecanthus Short philtrum Hypertonia Ventricular septal defect Graves disease Behavioral abnormality Low posterior hairline Abnormality of the hand Rheumatoid arthritis Celiac disease Arnold-Chiari malformation Bicuspid aortic valve Joint laxity Hydrocephalus Narrow mouth Patent ductus arteriosus Exotropia Bulbous nose Aggressive behavior Pes planus Growth delay Strabismus Low-set ears Abnormality of the skeletal system Dilatation Anxiety Hypospadias Abnormal heart morphology Hypothyroidism Pectus carinatum Abnormality of cardiovascular system morphology Fever Umbilical hernia Hernia

Rare Symptoms - Less than 30% cases


Tetralogy of Fallot Hemolytic anemia Talipes Chorea Renal agenesis Specific learning disability Amenorrhea Renal dysplasia Primary amenorrhea Autoimmunity Aortic root aneurysm Spina bifida Hypocalcemia Purpura Abnormality of the sternum Schizophrenia Attention deficit hyperactivity disorder Abnormality of the pinna Soft skin Obsessive-compulsive behavior Muscular hypotonia Hypoplasia of the corpus callosum Feeding difficulties Hypoplasia of the brainstem Spasticity Downslanted palpebral fissures Myopathic facies Absent speech Cholelithiasis Immunodeficiency Microphthalmia Recurrent infections Thrombocytopenia Obesity Ascending aortic dissection Arterial tortuosity Spondylolisthesis Ectopia lentis Cerebellar atrophy Mitral regurgitation Aplasia of the thymus Perimembranous ventricular septal defect Right aortic arch Mitral valve prolapse Impaired T cell function Duodenal stenosis Retinal vascular tortuosity Conotruncal defect Arteria lusoria Blue sclerae Right aortic arch with mirror image branching Bruising susceptibility Arachnodactyly Dolichocephaly Midface retrusion Anal atresia Epicanthus Interrupted aortic arch Aplasia of the uterus Malar flattening Posterior embryotoxon Psoriasiform dermatitis Unilateral renal agenesis Acne Inflammation of the large intestine Autoimmune hemolytic anemia Autoimmune thrombocytopenia Proptosis Bipolar affective disorder Seborrheic dermatitis Vitiligo Hypoparathyroidism Meningocele Truncus arteriosus Myelomeningocele Juvenile rheumatoid arthritis Osteoarthritis Camptodactyly Arthrogryposis multiplex congenita Sacral meningocele Anemia Conductive hearing impairment Broad thumb Coarctation of aorta Dental malocclusion Triangular face Thin vermilion border Smooth philtrum Postnatal growth retardation Intellectual disability, moderate Hydronephrosis Deeply set eye Villous atrophy Gastroesophageal reflux Mandibular prognathia Clinodactyly of the 5th finger Clinodactyly Gait disturbance Intrauterine growth retardation Wide nasal bridge Dysarthria Cryptorchidism Neoplasm Finger clinodactyly Constipation Tethered cord Anal stenosis Pulmonary artery atresia Abnormality of the endocrine system Echolalia Pierre-Robin sequence Delusions Hearing abnormality Submucous cleft hard palate Mood swings Axonal loss Basal ganglia calcification Abnormality of the ear Hypertension Hyperreflexia Apathy Platybasia Paranoia Holoprosencephaly Unilateral primary pulmonary dysgenesis Rigidity EEG abnormality Dystonia Tremor Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Unilateral lung agenesis Giant platelets Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Psychotic episodes Velopharyngeal insufficiency Dysdiadochokinesis Narrow palpebral fissure Lissencephaly Hiatus hernia Brachydactyly Curved fingers Cleft soft palate Enlarged naris Broad face Aortic dissection Epididymal cyst Bilateral coxa valga Vomiting Long palpebral fissure Abnormality of the dentition Reduced subcutaneous adipose tissue Decreased muscle mass Cerebral hemorrhage Arterial dissection Cervical spine instability Multicystic kidney dysplasia Pulmonic stenosis Hallucinations Open mouth Psychosis Peripheral demyelination Vesicoureteral reflux Dysmetria Congenital cataract Increased arm span Mental deterioration Dementia Depressivity Broad fingertip Intellectual disability, severe Cataract Lower limb spasticity Infantile spasms Patent foramen ovale Autistic behavior Stereotypy Postnatal microcephaly Thick lower lip vermilion Hypotelorism Abnormal cerebellum morphology Thick vermilion border Hyperlordosis Agenesis of corpus callosum Developmental regression Autism Gait ataxia Ataxia Biconvex vertebral bodies Bicuspid pulmonary valve Self-injurious behavior Respiratory failure Descending thoracic aorta aneurysm Absent thumb Forearm undergrowth Humeroradial synostosis Short tibia Absent radius Oligodactyly Cystic hygroma Cortical gyral simplification Narrow chest Aplasia/Hypoplasia of the corpus callosum Oligohydramnios Limb undergrowth Convex nasal ridge Wide nose Micromelia Generalized arterial tortuosity Pulmonary artery aneurysm Limb dystonia Skeletal dysplasia Joint dislocation Eczema Postaxial hand polydactyly Asthma Facial asymmetry Broad forehead Frontal bossing Aortic aneurysm Myopia Grasp reflex Stuttering Hydranencephaly Cogwheel rigidity Focal dystonia Microretrognathia Hallux valgus Multiple suture craniosynostosis Dermal translucency Cystic medial necrosis Long thorax Dural ectasia Unilateral ptosis Thoracic aortic aneurysm Ascending tubular aorta aneurysm Long toe Disproportionate tall stature Sagittal craniosynostosis High anterior hairline Narrow nose Scaphocephaly Dilatation of the cerebral artery Rhinitis Atrophic scars Intellectual disability, mild Atrioventricular block Broad columella Perisylvian polymicrogyria Generalized tonic-clonic seizures Vascular tortuosity Abnormality of the thymus Abnormality of the middle ear Broad nasal tip Prominent nose Astigmatism Small hand Otitis media Alcoholism Femoral hernia Microdontia Hypoplasia of penis Polymicrogyria Hypoplasia of the maxilla Downturned corners of mouth Hypoplasia of the thymus Spinal dysraphism Sepsis Abdominal distention Poor speech Coloboma Joint hyperflexibility Diarrhea Microtia Esophoria Type I truncus arteriosus Parathyroid agenesis Parathyroid hypoplasia Decreased circulating parathyroid hormone level Hirsutism Accommodative esotropia Apraxia Anterior segment developmental abnormality Abnormal intestine morphology Short attention span Short clavicles Sprengel anomaly Lipoma Cone-shaped epiphyses of the phalanges of the hand Short columella Abnormality of the clavicle Amblyopia High pitched voice Enuresis High, narrow palate 11 pairs of ribs Enlarged joints Speech apraxia Hyperextensibility of the finger joints Proportionate short stature Preauricular pit Interphalangeal joint contracture of finger Generalized hirsutism Recurrent otitis media Tetany Iris coloboma Long eyelashes Sclerocornea Short thumb Stiff neck Impulsivity Nephrocalcinosis Abnormality of the fingernails Abnormality of the voice Trigonocephaly Language impairment Clubbing Sloping forehead Long nose Aortic regurgitation Chin with H-shaped crease Hyporeflexia Pectus excavatum Cleft lip Abnormality of the kidney Motor delay Varicocele Whistling appearance Thin upper lip vermilion Shoulder flexion contracture Ulnar deviation of the hand or of fingers of the hand Abnormal auditory evoked potentials Flexion contracture of toe Overbite Dimple chin Brachycephaly Persistent left superior vena cava Trismus Syncope Tall stature Headache Congenital posterior urethral valve Delayed skeletal maturation Congenital pseudoarthrosis of the clavicle Overgrowth Babinski sign Neonatal hypotonia Joint hypermobility Long face Mesocardia Upslanted palpebral fissure Pseudoarthrosis Abnormal cardiac septum morphology Breech presentation Malignant hyperthermia Underdeveloped supraorbital ridges Hypermetropia Prominent forehead Prominent nasal bridge Long philtrum Short nose Neurological speech impairment Myopathy Malabsorption Camptodactyly of finger Muscle weakness Vaginal fistula Secretory diarrhea Intractable diarrhea Trichorrhexis nodosa Choanal stenosis Glaucoma Hip dislocation Distal arthrogryposis Pterygium Atrophy/Degeneration affecting the brainstem Hip contracture Mask-like facies Rocker bottom foot Expressive language delay Congenital contracture Adducted thumb Joint stiffness Spina bifida occulta Knee flexion contracture Feeding difficulties in infancy Intellectual disability, profound Abnormality of the skin Flat face Short upper lip Aplasia of the ulna



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