Arthritis, and Polydactyly

Diseases related with Arthritis and Polydactyly

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


Top matches:

Low match OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD


Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD

Low match HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4


Related symptoms:

  • Short stature
  • Growth delay
  • Cleft palate
  • Cognitive impairment
  • Anemia


SOURCES: OMIM MENDELIAN

More info about HYPERURICEMIC NEPHROPATHY, FAMILIAL JUVENILE, 4; HNFJ4

Low match HARLEQUIN ICHTHYOSIS


Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

HARLEQUIN ICHTHYOSIS Is also known as ichthyosis congenita, harlequin type|'harlequin fetus'|ichthyosis congenita, harlequin fetus type|harlequin ichthyosis|ichthyosis fetalis, harlequin type|hi

Related symptoms:

  • Global developmental delay
  • Cataract
  • Respiratory insufficiency
  • Recurrent respiratory infections
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HARLEQUIN ICHTHYOSIS

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Other less relevant matches:

Low match CHONDRODYSPLASIA, GREBE TYPE


Grebe chondrodysplasia is an autosomal recessive disorder characterized by severe abnormality of the limbs and limb joints. The severity of limb shortening progresses in a proximal-distal gradient, with the hands and feet being most affected. The fingers and toes lack articulation and appear as skin appendages. In contrast, axial skeletal structures and the craniofacial skeleton are not affected. Heterozygous individuals are of average stature and have mild skeletal abnormalities (summary by Thomas et al., 1997).

CHONDRODYSPLASIA, GREBE TYPE Is also known as grebe chondrodysplasia|grebe dysplasia|achondrogenesis, brazilian|acromesomelic dysplasia, grebe type|amdg|achondrogenesis, type ii, formerly

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about CHONDRODYSPLASIA, GREBE TYPE

Low match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

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 22Q11.2 DELETION SYNDROME


22q11.2 deletion syndrome (DS) is a chromosomal anomaly which causes a congenital malformation disorder whose common features include cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.

22Q11.2 DELETION SYNDROME Is also known as monosomy 22q11|digeorge sequence|sedlackova syndrome|takao syndrome|velocardiofacial syndrome|shprintzen syndrome|conotruncal anomaly face syndrome|digeorge syndrome|catch 22|cayler cardiofacial syndrome|microdeletion 22q11.2|22q11ds

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about 22Q11.2 DELETION SYNDROME

Low match URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4


URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4 Is also known as gout susceptibility 4|gout4

Related symptoms:

  • Gout


SOURCES: OMIM MENDELIAN

More info about URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 4; UAQTL4

Low match URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1


Gout is a common disorder resulting from tissue deposition of monosodium urate crystals as a consequence of hyperuricemia. Patients with gout experience very painful attacks caused by precipitation of urate in joints, which triggers subsequent inflammation. Elevated serum uric acid concentration is a key risk factor for gout (summary from Matsuo et al., 2009 and Woodward et al., 2011). Genetic Heterogeneity of Serum Uric Acid Concentration Quantitative Trait LociSee also UAQTL2 (see {612076}), conferred by variation in the SLC2A9 gene (OMIM ) on chromosome 4p; UAQTL4 (OMIM ), conferred by variation in the SLC17A3 gene (OMIM ) on chromosome 6p21; UAQTL5 (OMIM ), associated with a SNP on chromosome 19q13; and UAQTL6 (OMIM ), associated with a SNP on chromosome 1.

URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1 Is also known as gout1|gout susceptibility 1

Related symptoms:

  • Arthritis
  • Abnormality of the skin
  • Hyperuricemia
  • Gout


SOURCES: OMIM MENDELIAN

More info about URIC ACID CONCENTRATION, SERUM, QUANTITATIVE TRAIT LOCUS 1; UAQTL1

Low match SYNPOLYDACTYLY TYPE 2


SYNPOLYDACTYLY TYPE 2 Is also known as spd2|spd, debeer type|sd2, debeer type|synpolydactyly, 3/3-prime/4, associated with metacarpal and metatarsal synostoses|sd2b|synpolydactyly, debeer type

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Toe syndactyly
  • Tarsal synostosis
  • Carpal synostosis


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNPOLYDACTYLY TYPE 2

Top 5 symptoms//phenotypes associated to Arthritis and Polydactyly

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Talipes equinovarus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Cleft palate Malar flattening Growth delay Cataract Global developmental delay Gout Hypertelorism Hernia Hearing impairment Pectus carinatum

Rare Symptoms - Less than 30% cases


Severe short stature Inguinal hernia Kyphosis Downslanted palpebral fissures Patent ductus arteriosus Abnormality of the skeletal system Asthma Foot polydactyly Hand polydactyly Limitation of joint mobility Umbilical hernia Limb undergrowth Genu valgum Skeletal dysplasia Micrognathia Hydrocephalus Atrial septal defect Multiple suture craniosynostosis Broad forehead Autoimmunity Glaucoma Paresthesia Short neck Myopia Hypospadias Proptosis Hallux valgus Postaxial hand polydactyly Ptosis Muscular hypotonia Arachnodactyly Hyperuricemia Pain Postaxial polydactyly Bifid uvula Hypertension Patellar dislocation Brachydactyly Intrauterine growth retardation Dilatation Ascending aortic dissection Cystic medial necrosis Long thorax Dural ectasia Occipital myelomeningocele Pulmonary artery aneurysm Descending thoracic aorta aneurysm Generalized arterial tortuosity Unilateral ptosis Bicuspid pulmonary valve Biconvex vertebral bodies Seizures Microcephaly Truncus arteriosus Strabismus Failure to thrive Abnormal aortic arch morphology Intellectual disability, mild Retinal arteriolar tortuosity Behavioral abnormality Abnormality of the dentition Hypertensive crisis Ventricular septal defect Optic atrophy Thoracic aortic aneurysm Wide nasal bridge Epicanthus Tricuspid atresia Abnormality of the tonsils Low-set ears Cryptorchidism Abnormal facial shape Arterial tortuosity Sagittal craniosynostosis Ascending tubular aorta aneurysm Carpal synostosis Joint dislocation Syndactyly Finger clinodactyly Toe syndactyly Joint contracture of the hand Tarsal synostosis Exotropia Bicuspid aortic valve Mitral regurgitation Blue sclerae Mitral valve prolapse Eczema Metacarpal synostosis Bruising susceptibility Thin vermilion border Microretrognathia Arnold-Chiari malformation Dermal translucency Dilatation of the cerebral artery Long toe Abnormal pulmonary valve morphology Spondylolisthesis High anterior hairline Narrow nose Soft skin Scaphocephaly Rhinitis Ectopia lentis Aortic root aneurysm Abnormality of the sternum Atrophic scars Disproportionate tall stature Abnormality of the skin Myopathic facies Aortic aneurysm Anorectal anomaly Impaired T cell function Splenomegaly Abnormality of the uterus Nasal speech Laryngomalacia Schizophrenia Hypopigmented skin patches Purpura Abnormality of dental enamel Corneal neovascularization Cholelithiasis Hypocalcemia Tetany Spina bifida Hypoplasia of the thymus Seborrheic dermatitis Abnormal thrombocyte morphology Abnormal aortic valve morphology Polycystic kidney dysplasia Abnormality of the thorax Aganglionic megacolon Abnormal lung lobation Abnormal eyelid morphology Abnormality of the skull Varicose veins Multiple renal cysts Hypoparathyroidism Turricephaly Bipolar affective disorder Atelectasis Overfolded helix Posterior embryotoxon Hyperthyroidism Bowel incontinence Dysphasia Acne Chronic obstructive pulmonary disease Chronic otitis media Abnormality of the pharynx Choanal atresia Long philtrum Upslanted palpebral fissure Conductive hearing impairment Gastroesophageal reflux Polyhydramnios Hypothyroidism Narrow mouth Autism Constipation Anxiety Depressivity Obesity Thrombocytopenia Abnormality of cardiovascular system morphology Microphthalmia Meningocele Immunodeficiency Myalgia Telecanthus Small earlobe Vesicoureteral reflux Platybasia Renal hypoplasia Arrhinencephaly Tetralogy of Fallot Specific learning disability Gastrointestinal hemorrhage Intestinal malrotation Bulbous nose Feeding difficulties in infancy Long face Facial asymmetry Joint hyperflexibility Carious teeth Prominent nasal bridge Short philtrum Attention deficit hyperactivity disorder Anal atresia Cervical myelopathy Dolichocephaly Congenital ichthyosiform erythroderma Eclabion Hypergranulosis Congenital nonbullous ichthyosiform erythroderma Lack of skin elasticity Hearing abnormality Malignant hyperthermia Short finger Edema Erythroderma Self-injurious behavior Ectropion Recurrent skin infections Thickened skin Depressed nasal ridge Dehydration Flexion contracture Jaundice Sudden cardiac death Disproportionate short-limb short stature Metatarsus adductus Hypoplasia of the ulna Short middle phalanx of finger Heart murmur Hypoplasia of the radius Recurrent upper respiratory tract infections Aortic regurgitation Hepatosplenomegaly Hydrops fetalis Short phalanx of finger Abnormality of the ribs Macroglossia Short foot Hirsutism Talipes Premature birth Sepsis Short humerus Abnormality of digit Anemia Cognitive impairment Short 2nd finger T-cell lymphoma Chronic lymphatic leukemia Lymphoproliferative disorder Broad hallux Proteinuria Mild short stature Adducted thumb Lymphoma Leukemia Arthralgia Pectus excavatum Neoplasm Recurrent infections Abnormality of the kidney Everted lower lip vermilion Velopharyngeal insufficiency Ichthyosis Small for gestational age Rigidity Hyperkeratosis Respiratory failure Recurrent respiratory infections Respiratory insufficiency Elevated serum creatinine Postnatal growth retardation Focal segmental glomerulosclerosis Preaxial polydactyly Chronic kidney disease Renal cyst Neutropenia Hematuria Nephropathy Prolonged neonatal jaundice Fibular hypoplasia Craniosynostosis Restrictive ventilatory defect Ovoid vertebral bodies Barrel-shaped chest Vitreoretinopathy Hypoplasia of the odontoid process Disproportionate short stature Progressive sensorineural hearing impairment Short thorax Limited elbow movement Vestibular dysfunction Bowing of the legs Spondyloepiphyseal dysplasia Back pain Genu varum Growth abnormality Sleep apnea Myelopathy Flattened epiphysis Rhizomelia Clinodactyly Camptodactyly Joint laxity Pes planus Retrognathia Kyphoscoliosis Posteriorly rotated ears Clinodactyly of the 5th finger Frontal bossing Limited hip movement High palate Delayed calcaneal ossification Limitation of knee mobility Neonatal short-trunk short stature Sciatica Delayed pubic bone ossification Retinoschisis Coxa vara Abnormality of epiphysis morphology Short tibia Acromesomelia Muscle weakness Sensorineural hearing impairment Nystagmus Generalized hypotonia Valgus hand deformity Aplasia/Hypoplasia of metatarsal bones Short digit Respiratory distress Aplasia/Hypoplasia involving the metacarpal bones Pes valgus Aplasia/Hypoplasia of the patella Constrictive median neuropathy Short 1st metacarpal Short femur Dysostosis multiplex Gait disturbance Congestive heart failure Abnormal form of the vertebral bodies Flat face Abnormality of the metaphysis Abnormal lung morphology Lumbar hyperlordosis High myopia Waddling gait Retinal detachment Pulmonary hypoplasia Retinal degeneration Midface retrusion Micromelia Narrow chest Platyspondyly Hip dislocation Respiratory tract infection Hyperlordosis Apnea Metatarsal synostosis



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