Arthritis, and Toe syndactyly

Diseases related with Arthritis and Toe syndactyly

In the following list you will find some of the most common rare diseases related to Arthritis and Toe 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 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

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Other less relevant matches:

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

Low match CAMPTOSYNPOLYDACTYLY, COMPLEX; CCSPD


CAMPTOSYNPOLYDACTYLY, COMPLEX; CCSPD Is also known as camptopolydactyly, disorganization type

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Camptodactyly
  • Toe syndactyly
  • Small nail


SOURCES: OMIM MESH MENDELIAN

More info about CAMPTOSYNPOLYDACTYLY, COMPLEX; CCSPD

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 SYNDACTYLY TYPE 4


Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation characterized by complete bilateral syndactyly (involving all digits 1 to 5).

SYNDACTYLY TYPE 4 Is also known as sd4|haas type syndactyly|polysyndactyly, haas type

Related symptoms:

  • Syndactyly
  • Polydactyly
  • Camptodactyly of finger
  • Toe syndactyly
  • Postaxial polydactyly


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNDACTYLY TYPE 4

Low match SYNDACTYLY TYPE 8


Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers.

SYNDACTYLY TYPE 8 Is also known as fusion of metacarpals 4 and 5

Related symptoms:

  • Syndactyly
  • Hernia
  • Inguinal hernia
  • Upslanted palpebral fissure
  • Hyperactivity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SYNDACTYLY TYPE 8

Low match SYNDACTYLY TYPE 5


Syndactyly type 5 (SD5) is a very rare congenital limb malformation characterized by postaxial syndactyly of hands and feet, associated with metacarpal and metatarsal fusion of fourth and fifth digits.

SYNDACTYLY TYPE 5 Is also known as sd5|postaxial syndactyly with metacarpal synostosis|syndactyly with metacarpal and metatarsal fusion

Related symptoms:

  • Brachydactyly
  • Syndactyly
  • Clinodactyly of the 5th finger
  • Camptodactyly of finger
  • Abnormality of the foot


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYNDACTYLY TYPE 5

Top 5 symptoms//phenotypes associated to Arthritis and Toe syndactyly

Symptoms // Phenotype % cases
Syndactyly Uncommon - Between 30% and 50% cases
Polydactyly Uncommon - Between 30% and 50% cases
Hearing impairment Rare - less than 30% cases
Hernia Rare - less than 30% cases
Visual impairment Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Metatarsal synostosis Metacarpal synostosis Carpal synostosis Hypertelorism Abnormal facial shape Clinodactyly of the 5th finger 2-3 toe syndactyly Interphalangeal joint contracture of finger Camptodactyly of finger Sandal gap Gout Cutaneous syndactyly Thin upper lip vermilion Cutaneous finger syndactyly Short stature Strabismus Inguinal hernia Macrocephaly Obesity Fused fourth and fifth metacarpals Malar flattening Finger syndactyly Genu valgum Abnormality of epiphysis morphology Lymphedema Motor delay Pectus excavatum Radioulnar synostosis Intracranial hemorrhage Microglossia Constriction of peripheral visual field Failure to thrive in infancy Gingivitis Rheumatoid arthritis Cubitus valgus Vocal cord paralysis Narrow nasal bridge Abnormality of dental morphology Posterior subcapsular cataract Hiatus hernia Peripheral visual field loss Thoracic scoliosis Cerebral hemorrhage Subcapsular cataract Weak cry Celiac disease Disproportionate tall stature Short metatarsal Truncal obesity Abnormality of the hip bone Precocious puberty Low anterior hairline Reduced number of teeth High myopia Neutropenia Microcornea Hypoplasia of the maxilla Short metacarpal Prominent nose Growth hormone deficiency Aciduria Otitis media Convex nasal ridge Progressive visual loss Pigmentary retinopathy Narrow forehead Mitral valve prolapse Decreased fetal movement Lumbar hyperlordosis Laryngomalacia Open mouth Clumsiness Tall stature Long eyelashes Exotropia Gingival overgrowth Abnormality of retinal pigmentation Progressive microcephaly Preauricular skin tag Misalignment of teeth Intellectual disability, progressive Leukopenia Venous thrombosis Recurrent skin infections Facial hypotonia Hyperplasia of the maxilla Deep venous thrombosis Attention deficit hyperactivity disorder Postaxial polydactyly Limitation of joint mobility Hand polydactyly Triphalangeal thumb Foot polydactyly Short tibia Cutaneous syndactyly of toes 6 metacarpals Supernumerary metacarpal bones 1-5 finger syndactyly 1-5 finger complete cutaneous syndactyly Upslanted palpebral fissure Hyperactivity Triangular face Abnormality of the skin Split hand Ectrodactyly Hydrocele testis Brachydactyly Abnormality of the foot Short distal phalanx of finger Joint contracture of the hand Ulnar deviation of finger 3-4 finger syndactyly 4-5 toe syndactyly Absent distal interphalangeal creases 3-4 toe syndactyly Enlarged proximal interphalangeal joints Hyperuricemia Toenail dysplasia Furrowed tongue Laryngeal stenosis Macular edema Bone spicule pigmentation of the retina Abnormality of the larynx Aplasia/Hypoplasia of the earlobes Recurrent aphthous stomatitis Tapetoretinal degeneration Thick hair Iris atrophy Macrodontia Bull's eye maculopathy Granulocytopenia Congenital neutropenia Tapered finger Chorioretinal dystrophy Small nail Cutis gyrata of scalp Hemeralopia Narrow palm Narrow philtrum 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 Camptodactyly Single transverse palmar crease Smooth philtrum Highly arched eyebrow Osteopoikilosis Hoarse voice Hemangioma Flat occiput Hyperostosis Multiple lipomas Scleroderma Atypical scarring of skin Generalized hypopigmentation Abnormal cortical bone morphology Generalized osteosclerosis Abnormal aortic morphology Generalized limb muscle atrophy Abnormal bone structure Connective tissue nevi Subcutaneous nodule Diffuse skin atrophy Complete duplication of the distal phalanges of the hand Abnormal axial skeleton morphology Tarsal synostosis Intellectual disability Seizures Global developmental delay Generalized hypotonia Microcephaly Scoliosis Growth delay Nystagmus Failure to thrive Micrognathia Bone pain Abnormality of the metaphysis Muscular hypotonia Multiple epiphyseal dysplasia Low-set ears Frontal bossing Short neck Clinodactyly Agenesis of corpus callosum Polyhydramnios Pectus carinatum Hip dislocation Brain atrophy Osteoarthritis Joint dislocation Epiphyseal dysplasia Molar tooth sign on MRI Enlarged joints Nevus Pain Flexion contracture Hypertension Skeletal muscle atrophy Abnormality of the dentition Renal insufficiency Skeletal dysplasia Arthralgia Myalgia Joint stiffness Craniosynostosis Papule Palmoplantar keratoderma Recurrent fractures Sensorineural hearing impairment Cataract Retinal detachment Neurological speech impairment Intellectual disability, moderate Feeding difficulties in infancy Postnatal growth retardation Respiratory tract infection Protruding ear Paralysis Wide mouth Retinopathy Nyctalopia Stroke Short philtrum Prominent nasal bridge Small for gestational age Severe global developmental delay Neonatal hypotonia Synophrys Delayed puberty Joint hyperflexibility Astigmatism Arachnodactyly Retinal degeneration Abnormality of skin pigmentation Joint hypermobility Thick eyebrow Iris coloboma Retinal dystrophy Thick vermilion border High, narrow palate Small hand Joint laxity Pes planus Cryptorchidism Behavioral abnormality 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 Cardiomyopathy Edema Blindness Kyphosis Retrognathia Microphthalmia Dilatation Recurrent infections Thrombocytopenia Visual loss Cerebellar hypoplasia Rod-cone dystrophy Diabetes mellitus Reduced visual acuity Hypothyroidism Mandibular prognathia Gastroesophageal reflux Macrotia Kyphoscoliosis Deviation of toes



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

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