Arthritis, and Split hand

Diseases related with Arthritis and Split hand

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


Top matches:

Medium match MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA


Zankl et al. (2007) defined what they considered to be a continuous clinical spectrum involving Torg syndrome, Winchester syndrome (OMIM ), and NAO syndrome. Torg syndrome is characterized by the presence of multiple, painless, subcutaneous nodules and mild to moderate osteoporosis and osteolysis that is usually limited to the hands and feet. Radiographically, the osteolysis is accompanied by a characteristic widening of the metacarpal and metatarsal bones. Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to NAO, but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported. NAO syndrome, which has only been described in patients from Saudi Arabia, is generally more severe, with multiple prominent and painful subcutaneous nodules, massive osteolysis in the hands and feet, and generalized osteoporosis. Coarse face and body hirsutism are additional features.

MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA Is also known as osteolysis, hereditary multicentric|torg syndrome|al-aqeel sewairi syndrome|nodulosis-arthropathy-osteolysis syndrome|torg-winchester syndrome, formerly|nao syndrome

Related symptoms:

  • Short stature
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY; MONA

Medium match MUCOLIPIDOSIS TYPE III ALPHA/BETA


Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.

MUCOLIPIDOSIS TYPE III ALPHA/BETA Is also known as ml iii|mucolipidosis type 3 alpha/beta|pseudo-hurler polydystrophy|mucolipidosis iiia|ml iii alpha/beta|ml iiia|ml 3 alpha/beta|mucolipidosis iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III ALPHA/BETA

Low match CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE


CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE Is also known as cmt2 with vocal cord paresis, autosomal recessive|charcot-marie-tooth disease, type 4a, axonal form|charcot-marie-tooth neuropathy, axonal, with vocal cord paresis, autosomal recessive

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Areflexia
  • Pes cavus
  • Paralysis


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, WITH VOCAL CORD PARESIS, AUTOSOMAL RECESSIVE

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Other less relevant matches:

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 EEM SYNDROME


EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).

EEM SYNDROME Is also known as eem syndrome|ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

Related symptoms:

  • Strabismus
  • Abnormality of the dentition
  • Syndactyly
  • Abnormality of the eye
  • Camptodactyly


SOURCES: ORPHANET OMIM MENDELIAN

More info about EEM SYNDROME

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z


Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood (summary by Sevilla et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z Is also known as autosomal dominant charcot-marie-tooth disease type 2 due to morc2 mutation|cmt2z|charcot-marie-tooth disease, axonal, autosomal dominant, type 2z|charcot-marie-tooth neuropathy, type 2z

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Z

Low match TIBIAL APLASIA-ECTRODACTYLY SYNDROME


Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia.

TIBIAL APLASIA-ECTRODACTYLY SYNDROME Is also known as split-hand/foot malformation associated with aplasia of long bones|tibial hemimelia-ectrodactyly syndrome|tibial hemimelia with split hand/foot malformation|shfm associated with aplasia of long bones|tibial aplasia with split-hand/split-foot deformity|cle

Related symptoms:

  • Brachydactyly
  • Talipes equinovarus
  • Syndactyly
  • Camptodactyly
  • Finger syndactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about TIBIAL APLASIA-ECTRODACTYLY SYNDROME

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E


Autosomal dominant Charcot-Marie-Tooth disease type 2E (CMT2E) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2E onset is in the first to 6th decade with a gait anomaly and a leg weakness that reaches the arms secondarily. Tendon reflexes are reduced or absent and, after years, all patients have a pes cavus. Other signs may be present, including hearing loss and postural tremor.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E Is also known as cmt2e|charcot-marie-tooth neuropathy, type 2e

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Ptosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2E

Low match AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME


Autosomal dominant popliteal pterygium syndrome (AD-PPS) is a rare genetic malformative disorder characterized by cleft lip, with or without cleft palate, contractures of the lower extremities, abnormal external genitalia, syndactyly of fingers and/or toes, and a pyramidal skin fold over the hallux nail.

AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME Is also known as facio-genito-popliteal syndrome|popliteal web syndrome

Related symptoms:

  • Scoliosis
  • Micrognathia
  • Cleft palate
  • Cryptorchidism
  • Thin upper lip vermilion


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT POPLITEAL PTERYGIUM SYNDROME

Low match ADULT SYNDROME


ADULT (Acro-dermo-ungual-lacrimal-tooth) syndrome is a rare ectodermal dysplasia syndrome (see this term) characterized by ectrodactyly, syndactyly, mammary hypoplasia, and excessive freckling as well as other typical ectodermal defects such as hypodontia, lacrimal duct anomalies, hypotrichosis, and onychodysplasia.

ADULT SYNDROME Is also known as acrodermatounguallacrimaltooth syndrome|pigment anomaly-ectrodactyly-hypodontia syndrome|acro-dermato-ungual-lacrimal-tooth syndrome

Related symptoms:

  • Brachydactyly
  • Wide nasal bridge
  • Abnormality of the dentition
  • Syndactyly
  • Midface retrusion


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about ADULT SYNDROME

Top 5 symptoms//phenotypes associated to Arthritis and Split hand

Symptoms // Phenotype % cases
Scoliosis Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Pes cavus Uncommon - Between 30% and 50% cases
Ectrodactyly Uncommon - Between 30% and 50% cases
Syndactyly Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Finger syndactyly Muscle weakness Areflexia Brachydactyly Camptodactyly Distal sensory impairment Toe syndactyly Distal muscle weakness

Rare Symptoms - Less than 30% cases


Paralysis Distal amyotrophy Specific learning disability Decreased motor nerve conduction velocity Onion bulb formation Retinopathy Thin upper lip vermilion Joint stiffness Hypotrichosis Abnormality of the dentition Skeletal muscle atrophy Abnormality of the nail Popliteal pterygium Split foot Hammertoe Foot dorsiflexor weakness Difficulty walking Peripheral neuropathy Global developmental delay Motor delay Hearing impairment Generalized hypotonia Abnormality of dental morphology Sparse scalp hair Microdontia Ectodermal dysplasia Hernia Short stature Osteoporosis Osteopenia Coarse facial features Arthralgia Thickened skin Corneal opacity Micrognathia Short femur Short hallux Cataract Patellar aplasia Fibular hypoplasia Abnormality of fibula morphology Femoral bowing Preaxial hand polydactyly Abnormality of femur morphology Absent tibia Aplasia/Hypoplasia of the ulna Overfolded helix Aplasia/Hypoplasia of the tibia Hand monodactyly Rudimentary to absent tibiae Absent forearm Aplasia of the 3rd finger Ptosis High palate Respiratory distress Myopathy Hyporeflexia Hyperkeratosis Gait ataxia Facial palsy Cupped ear Limitation of joint mobility Omphalocele Sensorimotor neuropathy Proximal muscle weakness Abnormal pyramidal sign Limb muscle weakness Lower limb muscle weakness Peripheral axonal neuropathy Sensory neuropathy Muscle cramps Urinary incontinence Sensory impairment Spastic gait Clonus Fasciculations Frontal bossing Postaxial hand polydactyly Dysphonia Gait disturbance Sensory axonal neuropathy Brisk reflexes High pitched voice Distal lower limb muscle weakness Myokymia Decreased number of large peripheral myelinated nerve fibers Neck flexor weakness Talipes equinovarus Abnormality of the foot Congenital contracture Abnormality of the hand Narrow nasal bridge Kyphosis Freckling Wide intermamillary distance Eczema Fine hair Cutaneous photosensitivity Inflammatory abnormality of the skin Thin skin Abnormality of the face Skin ulcer Finger clinodactyly Conjunctivitis Oligodontia Dermal atrophy Melanocytic nevus Hypoplastic nipples Hypodontia Alopecia of scalp Fair hair Generalized hypopigmentation Sparse axillary hair Absent nipple Breast hypoplasia Nasolacrimal duct obstruction Toenail dysplasia Fingernail dysplasia Lacrimal duct stenosis Nail pits Lacrimal duct atresia Conical incisor Premature loss of permanent teeth Nail dysplasia Oral cleft Steppage gait Bifid scrotum Nemaline bodies Distal lower limb amyotrophy Increased connective tissue Ulnar claw Hypotrophy of the small hand muscles Cleft palate Cryptorchidism Ambiguous genitalia Abnormality of the ribs Choanal atresia Hypertelorism Generalized hirsutism Scrotal hypoplasia Non-midline cleft lip Dry skin Hypoplastic labia majora Ankyloblepharon Nonketotic hyperglycinemia Lip pit Fibrous syngnathia Wide nasal bridge Midface retrusion Clinodactyly Clinodactyly of the 5th finger Alopecia Hyperhidrosis Prominent nasal bridge Nail dystrophy Anal atresia Impaired vibratory sensation Brachycephaly Babinski sign Nevus Abnormality of the skeletal system Abnormality of the ear Prominent forehead Mandibular prognathia Umbilical hernia Respiratory tract infection Hypermelanotic macule Craniosynostosis Abnormality of the thorax Astigmatism Retinal degeneration Wide nose Hip dysplasia Abnormality of the thyroid gland Metaphyseal widening Cardiomegaly Bone pain Short ribs Opacification of the corneal stroma Aortic regurgitation Short long bone Rheumatoid arthritis Visual field defect Scleroderma Dysostosis multiplex Broad ribs Abnormality of the optic nerve Pain Intellectual disability Constrictive median neuropathy Contractures of the large joints Hip contracture Ankle contracture Ankylosis Antinuclear antibody positivity Vertebral compression fractures Generalized osteoporosis Delayed closure of the anterior fontanelle Wrist flexion contracture Generalized hypertrichosis Camptodactyly of toe Broad metatarsal Protrusio acetabuli C1-C2 subluxation Sclerotic cranial sutures Finger swelling Severe generalized osteoporosis Metacarpal osteolysis Metatarsal osteolysis Carpal osteolysis Thin metacarpal cortices Osteolysis involving tarsal bones Interphalangeal joint erosions Widened metacarpal shaft Ankylosis of feet small joints Peripheral opacification of the cornea Thin metatarsal cortices Distal tapering of metatarsals Juvenile rheumatoid arthritis Carpal bone hypoplasia Hypertonia Joint contracture of the hand Triangular face Sandal gap Hirsutism Hydrocele testis Fused fourth and fifth metacarpals Strabismus Bulbous nose Abnormality of the eye Pes planus Carious teeth Abnormality of retinal pigmentation Sparse and thin eyebrow Sparse eyelashes Attention deficit hyperactivity disorder Macular degeneration Widely spaced teeth Abnormality of vision Kyphoscoliosis Absent eyebrow Macular dystrophy Sparse body hair Selective tooth agenesis Hypothyroidism Proptosis Spasticity Arthropathy Diabetes mellitus Small hand Delayed eruption of teeth Mucopolysacchariduria Gingival overgrowth Shallow acetabular fossae Retinal vascular tortuosity J-shaped sella turcica Vascular tortuosity Hyperopic astigmatism Irregular carpal bones Increased serum iduronate sulfatase activity Increased serum beta-hexosaminidase Subperiosteal bone resorption Deficiency of N-acetylglucosamine-1-phosphotransferase Soft tissue swelling of interphalangeal joints Osteolysis Knee flexion contracture Decreased body weight Hyperactivity Subcutaneous nodule Peripheral demyelination Hoarse voice Hypertrichosis Axonal degeneration Decreased number of peripheral myelinated nerve fibers Interphalangeal joint contracture of finger Spinal deformities Vocal cord paresis Axonal degeneration/regeneration Hypoplasia of the maxilla Inguinal hernia Upslanted palpebral fissure Adermatoglyphia



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