Arthritis, and Syndactyly

Diseases related with Arthritis and Syndactyly

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


Top matches:

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 BUSCHKE-OLLENDORFF SYNDROME


Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

BUSCHKE-OLLENDORFF SYNDROME Is also known as dermatofibrosis, disseminated, with osteopoikilosis|osteopathia condensans disseminata|dermatoosteopoikilosis|dermatofibrosis lenticularis disseminata with osteopoikilosis|disseminated dermatofibrosis with osteopoikilosis

Related symptoms:

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about BUSCHKE-OLLENDORFF SYNDROME

Low match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

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Other less relevant matches:

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

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 POSTAXIAL POLYDACTYLY TYPE A


Polydactyly refers to the occurrence of supernumerary digits and is the most frequent of congenital hand and foot deformities. Based on the location of the extra digits, polydactyly can be classified into preaxial, involving the thumb or great toe; postaxial, affecting the fifth digit; and central, involving the 3 central digits. Postaxial polydactyly (PAP) is further subclassified into 2 types: in type A, a well-formed extra digit articulates with the fifth or a sixth metacarpal, whereas in type B, a rudimentary, poorly developed extra digit is present (summary by Umm-e-Kalsoom et al., 2012). Genetic Heterogeneity of Postaxial PolydactylyOther forms of postaxial polydactyly type A include PAPA2 (OMIM ) on chromosome 13q21; PAPA3 (OMIM ) on chromosome 19p13; PAPA4 (OMIM ) on chromosome 7q22; PAPA5 (OMIM ) on chromosome 13q13; PAPA6 (OMIM ), caused by mutation in the ZNF141 gene (OMIM ) on chromosome 4p16; PAPA7 (OMIM ), caused by mutation in the IQCE gene (OMIM ) on chromosome 7p22; and PAPA8 (OMIM ), caused by mutation in the GLI1 gene (OMIM ) on chromosome 12q13.

POSTAXIAL POLYDACTYLY TYPE A Is also known as postaxial polydactyly, type a|papa|polydactyly, postaxial

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Abnormality of the foot
  • Postaxial polydactyly
  • Postaxial hand polydactyly


SOURCES: OMIM ORPHANET MENDELIAN

More info about POSTAXIAL POLYDACTYLY TYPE A

Low match OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2


In the hand, osteoarthritis can develop in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints (Stefansson et al., 2003). Patients with osteoarthritis may have one, a few, or all of these sites affected. Heberden nodes are bony excrescences of the phalanges of the distal interphalangeal joints of the fingers (Stecher, 1955). They can be considered a variety of osteoarthrosis, or degenerative arthritis.For a phenotypic description and a discussion of genetic heterogeneity of osteoarthritis, see OS1 (OMIM ).

OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2 Is also known as dipoa|hoa|hand osteoarthritis|oadip|osteoarthritis of distal interphalangeal joints

Related symptoms:

  • Arthritis
  • Osteoarthritis
  • Heberden's node


SOURCES: OMIM MENDELIAN

More info about OSTEOARTHRITIS SUSCEPTIBILITY 2; OS2

Low match OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3


OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3 Is also known as osteoarthritis of knee/hip

Related symptoms:

  • Arthralgia
  • Joint stiffness
  • Osteoarthritis of the first carpometacarpal joint
  • Osteoarthritis of the distal interphalangeal joint


SOURCES: OMIM MENDELIAN

More info about OSTEOARTHRITIS SUSCEPTIBILITY 3; OS3

Low match OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1


Osteoarthritis (OA) is a degenerative disease of the joints characterized by degradation of the hyaline articular cartilage and remodeling of the subchondral bone with sclerosis (Meulenbelt et al., 2006). Clinical problems include pain and joint stiffness often leading to significant disability and joint replacement. Osteoarthritis exhibits a clear predilection for specific joints; it appears most commonly in the hip and knee joints and lumbar and cervical spine, as well as in the distal interphalangeal and the first carpometacarpal (base of thumb) and proximal interphalangeal joints of the hand; however, patients with osteoarthritis may have 1, a few, or all of these sites affected (Stefansson et al., 2003). According to a conservative estimate, greater than 70% of the population of the United States at age 65 years is affected by the disease, reflecting its age dependence. Genetic Heterogeneity of Susceptibility to OsteoarthritisSusceptibility to osteoarthritis has been associated with variation in other genes: OS2 (OMIM ) with variation in the MATN3 gene (OMIM ) on chromosome 2p24; OS3 (OMIM ) with variation in the ASPN gene (OMIM ) on chromosome 9q22; and OS5 (OMIM ) with variation in the GDF5 gene (OMIM ) on chromosome 20q11.Other susceptibility loci for osteoarthritis have been mapped to chromosomes 2q33 (OS4 ) and 3p24 (OS6 ).

OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1 Is also known as oa|osteoarthrosis|osteoarthritis of hip, female-specific, susceptibility to

Related symptoms:

  • Pain
  • Joint stiffness
  • Osteoarthritis
  • Abnormality of pelvic girdle bone morphology
  • Hip osteoarthritis


SOURCES: OMIM MENDELIAN

More info about OSTEOARTHRITIS SUSCEPTIBILITY 1; OS1

Top 5 symptoms//phenotypes associated to Arthritis and Syndactyly

Symptoms // Phenotype % cases
Joint stiffness Uncommon - Between 30% and 50% cases
Osteoarthritis Uncommon - Between 30% and 50% cases
Genu valgum Rare - less than 30% cases
Arthralgia Rare - less than 30% cases
Polydactyly Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Visual impairment Pain Strabismus Hearing impairment Short stature Gout Lymphedema Abnormality of epiphysis morphology Hypertelorism Pectus excavatum Motor delay Abnormal facial shape Finger syndactyly Malar flattening Obesity Macrocephaly Tapered finger Recurrent skin infections Venous thrombosis Intellectual disability, progressive Leukopenia Sandal gap Low anterior hairline Preauricular skin tag Progressive microcephaly Abnormality of retinal pigmentation Gingival overgrowth Laryngomalacia Precocious puberty Reduced number of teeth Short metatarsal Long eyelashes Radioulnar synostosis Intracranial hemorrhage Failure to thrive in infancy Rheumatoid arthritis Cubitus valgus Constriction of peripheral visual field Abnormality of dental morphology Cerebral hemorrhage Disproportionate tall stature Truncal obesity Abnormality of the hip bone Exotropia Lumbar hyperlordosis Tall stature Growth hormone deficiency Single transverse palmar crease Highly arched eyebrow Retinal detachment Neutropenia Microcornea Small hand Hypoplasia of the maxilla Short metacarpal High, narrow palate Prominent nose Thick vermilion border Aciduria Clumsiness Retinal dystrophy Otitis media Convex nasal ridge Celiac disease Iris coloboma Progressive visual loss Pigmentary retinopathy Narrow forehead Mitral valve prolapse Decreased fetal movement High myopia Open mouth Narrow nasal bridge Misalignment of teeth Weak cry Metacarpal synostosis Chorioretinal dysplasia High-pitched cry Thick corpus callosum Prominent eyelashes Macrodontia of permanent maxillary central incisor Childhood-onset truncal obesity Hypoplastic philtrum Cat cry Slender toe Toe syndactyly Tarsal synostosis Carpal synostosis Metatarsal synostosis Narrow palm Abnormality of the skin Hyperuricemia Abnormality of the foot Postaxial polydactyly Postaxial hand polydactyly Broad thumb Preaxial polydactyly Triphalangeal thumb Heberden's node Osteoarthritis of the first carpometacarpal joint Osteoarthritis of the distal interphalangeal joint Abnormality of pelvic girdle bone morphology Narrow philtrum Hemeralopia Subcapsular cataract Bone spicule pigmentation of the retina Thoracic scoliosis Peripheral visual field loss Hiatus hernia Posterior subcapsular cataract Gingivitis Microglossia Vocal cord paralysis Facial hypotonia Joint hypermobility Deep venous thrombosis Furrowed tongue Macular edema Abnormality of the larynx Cutis gyrata of scalp Aplasia/Hypoplasia of the earlobes Recurrent aphthous stomatitis Tapetoretinal degeneration Thick hair Iris atrophy Macrodontia Bull's eye maculopathy Granulocytopenia Congenital neutropenia Hyperplasia of the maxilla Laryngeal stenosis Chorioretinal dystrophy Thick eyebrow Small for gestational age Abnormality of skin pigmentation Abnormal bone structure Hemangioma Flat occiput Hyperostosis Multiple lipomas Scleroderma Cutaneous finger syndactyly Atypical scarring of skin Generalized hypopigmentation Abnormal cortical bone morphology Generalized osteosclerosis Abnormal aortic morphology Generalized limb muscle atrophy Osteopoikilosis Bone pain Connective tissue nevi Diffuse skin atrophy Complete duplication of the distal phalanges of the hand Abnormal axial skeleton morphology Intellectual disability Seizures Global developmental delay Generalized hypotonia Microcephaly Scoliosis Growth delay Nystagmus Hoarse voice Subcutaneous nodule Micrognathia Molar tooth sign on MRI Low-set ears Frontal bossing Short neck Clinodactyly Inguinal hernia Agenesis of corpus callosum Polyhydramnios Pectus carinatum Hip dislocation Brain atrophy Joint dislocation Epiphyseal dysplasia Multiple epiphyseal dysplasia Abnormality of the metaphysis Enlarged joints Flexion contracture Hypertension Skeletal muscle atrophy Abnormality of the dentition Renal insufficiency Skeletal dysplasia Myalgia Craniosynostosis Papule Palmoplantar keratoderma Recurrent fractures Nevus Failure to thrive Sensorineural hearing impairment Retinal degeneration Paralysis Macrotia Kyphoscoliosis Retrognathia Pes planus Thin upper lip vermilion Neonatal hypotonia Joint laxity Intellectual disability, moderate Feeding difficulties in infancy Postnatal growth retardation Respiratory tract infection Protruding ear Wide mouth Mandibular prognathia Retinopathy Nyctalopia Stroke Short philtrum Prominent nasal bridge Neurological speech impairment Severe global developmental delay Synophrys Delayed puberty Joint hyperflexibility Smooth philtrum Astigmatism Arachnodactyly Gastroesophageal reflux Hypothyroidism Muscular hypotonia Cardiomyopathy Cataract Cryptorchidism Ptosis High palate Depressed nasal bridge Myopia Intrauterine growth retardation Optic atrophy Downslanted palpebral fissures Abnormality of the skeletal system Ventricular septal defect Respiratory distress Edema Reduced visual acuity Blindness Behavioral abnormality Kyphosis Microphthalmia Dilatation Recurrent infections Thrombocytopenia Hernia Visual loss Clinodactyly of the 5th finger Cerebellar hypoplasia Rod-cone dystrophy Diabetes mellitus Hip osteoarthritis



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