Arthritis, and Facial asymmetry

Diseases related with Arthritis and Facial asymmetry

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


Top matches:

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 MELNICK-NEEDLES SYNDROME


Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.

MELNICK-NEEDLES SYNDROME Is also known as osteodysplasty of melnick and needles|melnick-needles osteodysplasty

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about MELNICK-NEEDLES SYNDROME

Low match WINCHESTER SYNDROME; WNCHRS


Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).

Related symptoms:

  • Short stature
  • Flexion contracture
  • Severe short stature
  • Osteoporosis
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about WINCHESTER SYNDROME; WNCHRS

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Other less relevant matches:

Low match SINGLETON-MERTEN SYNDROME 2; SGMRT2


Singleton-Merten syndrome-2 is characterized by variable expression of glaucoma, aortic calcification, and skeletal abnormalities, without dental anomalies (summary by Jang et al., 2015).For a general phenotypic description and discussion of genetic heterogeneity of Singleton-Merten syndrome, see SGMRT1 (OMIM ).

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Muscle weakness
  • Abnormal facial shape
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SINGLETON-MERTEN SYNDROME 2; SGMRT2

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA


Spondyloepiphyseal dysplasia congenita (SEDC) is a chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies.

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA Is also known as congenital spondyloepiphyseal dysplasia|spranger-wiedemann disease|sedc

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA

Low match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE

Low match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1


Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 Is also known as med1|edm1|multiple epiphyseal dysplasia, comp-related|polyepiphyseal dysplasia type 1

Related symptoms:

  • Short stature
  • Brachydactyly
  • Gait disturbance
  • Severe short stature
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

Low match FAMILIAL OSTEOCHONDRITIS DISSECANS


Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Low match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

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

Top 5 symptoms//phenotypes associated to Arthritis and Facial asymmetry

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Abnormal facial shape Uncommon - Between 30% and 50% cases
Hypertelorism Uncommon - Between 30% and 50% cases
Frontal bossing Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Facial asymmetry. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Micrognathia Severe short stature Skeletal dysplasia Gait disturbance Motor delay Brachydactyly Joint dislocation Talipes equinovarus Abnormality of the skeletal system Genu valgum Cleft palate Scoliosis

Rare Symptoms - Less than 30% cases


Hip dislocation Narrow chest Intellectual disability Midface retrusion High forehead Pectus excavatum Pain Failure to thrive Delayed eruption of teeth Delayed skeletal maturation Mild short stature Epiphyseal dysplasia Waddling gait Joint stiffness Arthralgia Multiple epiphyseal dysplasia Short thorax Limited elbow extension Abnormality of epiphysis morphology Limitation of joint mobility Micromelia Hyperlordosis Short neck Global developmental delay Glaucoma Generalized hypotonia Flexion contracture Underdeveloped supraorbital ridges Hearing impairment Pectus carinatum Pes planus Clinodactyly Posteriorly rotated ears Malar flattening Proptosis Mitral valve prolapse Retrognathia Atrial septal defect Kyphoscoliosis Myopia Broad forehead High palate Mitral regurgitation Blue sclerae Agenesis of corpus callosum Coxa vara Short phalanx of finger Abnormal intestine morphology Low-set ears Hip dysplasia Macrocephaly Obesity Inguinal hernia Short metacarpal Sloping forehead Finger syndactyly Round face Brain atrophy Lymphedema Short palm Molar tooth sign on MRI Sepsis Enlarged joints Polyhydramnios Retinal detachment Long nose Dry skin Arthropathy Secretory diarrhea Generalized osteoporosis Osteolysis involving bones of the feet Osteolysis involving bones of the upper limbs Intractable diarrhea Muscle weakness Trichorrhexis nodosa Edema Abnormality of the dentition Hyperkeratosis Inflammatory abnormality of the skin Genu varum Aortic valve stenosis Atopic dermatitis Pulmonary edema Calcification of the aorta Nystagmus Cataract Villous atrophy Kyphosis Choanal stenosis Platyspondyly Celiac disease Flat face Disproportionate short-limb short stature Abnormality of the endocrine system Spondyloepiphyseal dysplasia Hypoglycemia Disproportionate short stature Proportionate short stature Joint swelling Exostoses Abnormality of tibia morphology Abnormality of the knee Low back pain Osteochondritis Dissecans Decreased hip abduction Limited elbow flexion Quadriceps muscle atrophy Abnormality of skeletal physiology Delayed puberty Back pain Microdontia Hypoplasia of penis Depressed nasal ridge Hypohidrosis Short toe Hypercholesterolemia Reduced number of teeth High pitched voice Truncal obesity Prematurely aged appearance Abnormality of the elbow Aplasia/Hypoplasia involving the nose Broad hallux Growth abnormality Abdominal distention Hip osteoarthritis Abnormality of the skull Short femoral neck Irregular vertebral endplates Anal atresia Delayed epiphyseal ossification Ovoid vertebral bodies Generalized joint laxity Avascular necrosis of the capital femoral epiphysis Small for gestational age Irregular epiphyses Small epiphyses Broad femoral neck Pseudoepiphyses Accelerated skeletal maturation Coloboma Premature osteoarthritis Blepharophimosis Short fourth metatarsal Hyperactivity Diarrhea Limited hip movement Microcephaly Osteolysis Hypoplastic nasal bridge Depressed nasal bridge Lumbar hyperlordosis Short thumb Rheumatoid arthritis Complete atrioventricular canal defect Gingival overgrowth Unilateral ptosis Rhinitis Dilatation of the cerebral artery Scaphocephaly Soft skin Narrow nose High anterior hairline Spondylolisthesis Sagittal craniosynostosis Long toe Dermal translucency Ascending tubular aorta aneurysm Thoracic aortic aneurysm Arterial tortuosity Dural ectasia Abnormality of the sternum Long thorax Ascending aortic dissection Cystic medial necrosis Multiple suture craniosynostosis Pulmonary artery aneurysm Descending thoracic aorta aneurysm Generalized arterial tortuosity Bicuspid pulmonary valve Biconvex vertebral bodies Strabismus Hypertension Respiratory insufficiency Abnormal heart morphology Aortic root aneurysm Atrophic scars Recurrent respiratory infections Thin vermilion border Ptosis Downslanted palpebral fissures Hydrocephalus Dilatation Hernia Hypospadias Patent ductus arteriosus Clinodactyly of the 5th finger Joint laxity Camptodactyly Craniosynostosis Dolichocephaly Arachnodactyly Bruising susceptibility Disproportionate tall stature Bifid uvula Asthma Postaxial hand polydactyly Eczema Exotropia Joint contracture of the hand Finger clinodactyly Microretrognathia Bicuspid aortic valve Arnold-Chiari malformation Ectopia lentis Aortic aneurysm Myopathic facies Hallux valgus Pneumonia Prominent forehead Subcutaneous nodule Ureteral stenosis Atrioventricular canal defect Short humerus Short clavicles Cone-shaped epiphyses of the phalanges of the hand Misalignment of teeth Hypoplastic scapulae Osteolytic defects of the phalanges of the hand Hypoplastic pelvis Abnormal cortical bone morphology Small face Craniofacial hyperostosis Sclerosis of skull base Tricuspid valve prolapse Prune belly Long fingers Long neck Urethral atresia Megacystis Hypoplastic facial bones Frontal hirsutism Abnormality of the pubic bone Anisospondyly Ureteral obstruction Obtuse angle of mandible Anterior concavity of thoracic vertebrae Osteoporosis Coarse facial features Corneal opacity Tibial bowing Delayed cranial suture closure Macrotia Oligohydramnios Conductive hearing impairment Hydronephrosis Respiratory tract infection Abnormal cardiac septum morphology Pulmonic stenosis Joint hyperflexibility Short distal phalanx of finger Full cheeks Nevus Vesicoureteral reflux Intestinal malrotation Growth hormone deficiency Tetralogy of Fallot Abnormality of the ribs Thoracic hypoplasia Pulmonary arterial hypertension Renal hypoplasia Recurrent otitis media Abnormality of the metaphysis Omphalocele Bowing of the long bones Wide anterior fontanel Hoarse voice Coxa valga Coarse hair Prominent supraorbital ridges Melanocytic nevus Flared metaphysis Ectopic kidney Vaginal fistula



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Round face, related diseases and genetic alterations

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