Arthritis, and Short distal phalanx of finger

Diseases related with Arthritis and Short distal phalanx of finger

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


Top matches:

Low match FAMILIAL DIGITAL ARTHROPATHY-BRACHYDACTYLY


Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.

Related symptoms:

  • Short stature
  • Brachydactyly
  • Skeletal dysplasia
  • Short distal phalanx of finger
  • Osteoarthritis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FAMILIAL DIGITAL ARTHROPATHY-BRACHYDACTYLY

Low match NEUROECTODERMAL-ENDOCRINE SYNDROME


Neuroectodermal-endocrine syndrome is characterised by a combination of endocrine and neuroectodermal abnormalities, including low growth hormone levels, delayed puberty, type II diabetes mellitus, mild intellectual deficit, sensorineural deafness, characteristic facial appearance and alopecia. It has been described in four sibs from Myanmar.

NEUROECTODERMAL-ENDOCRINE SYNDROME Is also known as pseudoachondroplastic dysplasia|oerter-friedman-anderson syndrome|spondyloepiphyseal dysplasia, pseudoachondroplastic

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Pain
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about NEUROECTODERMAL-ENDOCRINE SYNDROME

Low match CHST3-RELATED SKELETAL DYSPLASIA


CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal.

CHST3-RELATED SKELETAL DYSPLASIA Is also known as chondrodysplasia with multiple dislocations|cdmd|humerospinal dysostosis|spondyloepiphyseal dysplasia with congenital joint dyslocations, chst3 type|sdcd, chst3 type|hsd|spondyloepiphyseal dysplasia, omani type|chondrodysplasia with congenital joint dislo

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHST3-RELATED SKELETAL DYSPLASIA

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Other less relevant matches:

Low match DESBUQUOIS DYSPLASIA 1; DBQD1


Desbuquois dysplasia (DBQD) is an autosomal recessive chondrodysplasia belonging to the multiple dislocation group and characterized by severe prenatal and postnatal growth retardation (stature less than -5 SD), joint laxity, short extremities, and progressive scoliosis. The main radiologic features are short long bones with metaphyseal splay, a 'Swedish key' appearance of the proximal femur (exaggerated trochanter), and advanced carpal and tarsal bone age with a delta phalanx (summary by Huber et al., 2009).Desbuquois dysplasia is clinically and radiographically heterogeneous, and had been classified into 2 types based on the presence (type 1) or absence (type 2) of characteristic hand anomalies, including an extra ossification center distal to the second metacarpal, delta phalanx, bifid distal thumb phalanx, and dislocation of the interphalangeal joints (Faivre et al., 2004). However, patients with and without these additional hand anomalies have been reported to have mutations in the same gene (see, e.g., CANT1); thus, these features are not distinctive criteria to predict the molecular basis of DBQD (Furuichi et al., 2011). In addition, Kim et al. (2010) described another milder variant of DBQD with almost normal outwardly appearing hands, but significant radiographic changes, including short metacarpals, elongated phalanges, and remarkably advanced carpal bone age. However, there is no accessory ossification center distal to the second metacarpal, and patients do not have thumb anomalies. Similar changes occur in the feet. These patients also tend to develop precocious osteoarthritis of the hand and spine with age. This phenotype is sometimes referred to as the 'Kim variant' of DBQD (Furuichi et al., 2011). Genetic Heterogeneity of Desbuquois DysplasiaDBQD2 (OMIM ) is caused by mutation in the XYLT1 gene (OMIM ) on chromosome 16p12.Two unrelated patients with immunodeficiency-23 (IMD23 ), due to mutation in the PGM3 gene (OMIM ), were reported to have skeletal features reminiscent of DBQD.

DESBUQUOIS DYSPLASIA 1; DBQD1 Is also known as desbuquois syndrome|micromelic dwarfism with vertebral and metaphyseal abnormalities and advanced carpotarsal ossification

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about DESBUQUOIS DYSPLASIA 1; DBQD1

Low match ALBERS-SCHÖNBERG OSTEOPETROSIS


Albers-Schönberg osteopetrosis is a sclerosing disorder of the skeleton characterized by increased bone density that classically displays the radiographic sign of ''sandwich vertebrae'' (dense bands of sclerosis parallel to the vertebral endplates).

ALBERS-SCHÖNBERG OSTEOPETROSIS Is also known as osteopetrosis autosomal dominant type 2|osteopetrosis, autosomal dominant, type ii|marble bones, autosomal dominant|albers-schonberg disease, autosomal dominant|osteosclerosis fragilis generalisata

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALBERS-SCHÖNBERG OSTEOPETROSIS

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 SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME


Related symptoms:

  • Brachydactyly
  • Midface retrusion
  • Osteoarthritis
  • Short thumb
  • Developmental stagnation


SOURCES: ORPHANET MENDELIAN

More info about SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME

Low match ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA


Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia (see this term) characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.

ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA Is also known as asped

Related symptoms:

  • Short stature
  • Pain
  • Brachydactyly
  • Delayed skeletal maturation
  • Joint hyperflexibility


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA

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 MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4


Multiple epiphyseal dysplasia type 4 is a multiple epiphyseal dysplasia with a late-childhood onset, characterized by joint pain involving hips, knees, wrists, and fingers with occasional limitation of joint movements, deformity of hands, feet, and knees (club foot, clinodactyly, brachydactyly), scoliosis and slightly reduced adult height. Radiographs display flat epiphyses with early arthritis of the hip, and double-layered patella. Multiple epiphyseal dysplasia type 4 follows an autosomal recessive mode of transmission. The disease is allelic to diastrophic dwarfism, atelosteogenesis type 2 and achondrogenesis type 1B with whom it forms a clinical continuum.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4 Is also known as med4|multiple epiphyseal dysplasia, autosomal recessive|rmed|edm4|polyepiphyseal dysplasia type 4|multiple epiphyseal dysplasia with bilayered patellae|autosomal recessive multiple epiphyseal dysplasia|multiple epiphyseal dysplasia with clubfoot

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Cleft palate


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 4

Top 5 symptoms//phenotypes associated to Arthritis and Short distal phalanx of finger

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Osteoarthritis Very Common - Between 80% and 100% cases
Brachydactyly Common - Between 50% and 80% cases
Skeletal dysplasia Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Arthritis and Short distal phalanx of finger. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short metacarpal Genu valgum Arthralgia Spondyloepiphyseal dysplasia Epiphyseal dysplasia Talipes equinovarus Joint dislocation Multiple epiphyseal dysplasia Irregular epiphyses Severe short stature Waddling gait Gait disturbance Pain Limited elbow extension Abnormality of epiphysis morphology Rhizomelia Abnormality of the skeletal system Disproportionate short-limb short stature Kyphoscoliosis Genu varum Motor delay Hypertelorism Micrognathia Hearing impairment Hip dysplasia Short middle phalanx of finger Premature osteoarthritis Proptosis Irregular vertebral endplates Small epiphyses Abnormality of the metaphysis Pes planus Bowing of the long bones Growth delay Platyspondyly Hip osteoarthritis Hyperlordosis Micromelia Joint hyperflexibility Delayed skeletal maturation Delayed eruption of teeth Short femoral neck Kyphosis

Rare Symptoms - Less than 30% cases


Anisospondyly High forehead Clinodactyly Limited hip extension Midface retrusion Dilatation Immunodeficiency Short humerus Multiple joint dislocation Edema Flattened epiphysis Generalized hypotonia Coronal cleft vertebrae Abnormal facial shape Bilateral talipes equinovarus Pulmonic stenosis Hip dislocation Muscular hypotonia Wide intermamillary distance Pulmonary arterial hypertension Conductive hearing impairment Multiple carpal ossification centers Flexion contracture Pectus excavatum Short thorax Short neck Tibial bowing Macrocephaly Narrow chest Joint stiffness Cleft palate Strabismus Mild short stature Pseudoepiphyses Flared metaphysis Short palm Metaphyseal irregularity Frontal bossing Metaphyseal widening Thoracic hypoplasia Coxa valga Short 1st metacarpal Lumbar hyperlordosis Osteopenia Limb undergrowth Growth hormone deficiency Joint laxity Metaphyseal dysplasia Broad femoral neck Generalized joint laxity Pneumonia Delayed epiphyseal ossification Round face Disproportionate short stature Arthropathy Enlarged joints Elevated serum acid phosphatase Hyperostosis Osteomyelitis Mandibular osteomyelitis Rhinitis Tooth abscess Supernumerary metacarpal bones Aseptic necrosis Osteopetrosis Lumbar scoliosis Abnormal cranial nerve morphology Splayed fingers Seizures Generalized osteosclerosis Proximal fibular overgrowth Extramedullary hematopoiesis Fractures of the long bones Broad first metatarsal Radioulnar dislocation Abnormal leukocyte morphology Medial deviation of the foot Cranial hyperostosis Facial paralysis Abnormality of the vertebral endplates Increased susceptibility to fractures Lymphedema Facial palsy Paralysis Visual loss Carious teeth Neurodegeneration Recurrent fractures Ectodermal dysplasia Pancytopenia Thrombocytopenia Recurrent infections Abnormality of the dentition Recurrent urinary tract infections Blindness Hydrocephalus Global developmental delay Bone pain Optic atrophy Increased bone mineral density Bone marrow hypocellularity Visual impairment Anemia Hypocalcemia Cranial nerve paralysis Muscle weakness Mandibular prognathia Abnormality of the metacarpal bones Abnormality of pelvic girdle bone morphology Nystagmus Hepatosplenomegaly Coarse hair Failure to thrive Obtuse angle of mandible Hyperextensibility of the finger joints Short middle phalanx of the 5th finger Cone-shaped epiphysis Hypodontia Developmental stagnation Short thumb Anterior concavity of thoracic vertebrae Ureteral obstruction Hip pain Abnormality of the pubic bone Frontal hirsutism Hypoplastic facial bones Megacystis Urethral atresia Long neck Prune belly Ureteral stenosis Delayed ossification of carpal bones Pseudoepiphyses of the metacarpals Sclerosis of skull base Metatarsus adductus Abnormality of the patella Hypoplasia of the femoral head Limited elbow flexion Knee pain Hip subluxation Flat capital femoral epiphysis Abnormality of the knee Short finger Growth abnormality Limitation of joint mobility Small hand Rigidity Clinodactyly of the 5th finger Limited hip movement Short fourth metatarsal Avascular necrosis of the capital femoral epiphysis Ovoid vertebral bodies Short phalanx of finger Tricuspid valve prolapse Complete atrioventricular canal defect Hypertension Abnormal cardiac septum morphology Mitral valve prolapse Tetralogy of Fallot Intestinal malrotation Vesicoureteral reflux Nevus Full cheeks Facial asymmetry Respiratory tract infection Abnormality of the ribs Hydronephrosis Retrognathia Macrotia Prominent forehead Recurrent respiratory infections Abnormal heart morphology Atrial septal defect Respiratory insufficiency Oligohydramnios Renal hypoplasia Craniofacial hyperostosis Atrioventricular canal defect Small face Abnormal cortical bone morphology Hypoplastic pelvis Osteolytic defects of the phalanges of the hand Hypoplastic scapulae Misalignment of teeth Cone-shaped epiphyses of the phalanges of the hand Short clavicles Long fingers Recurrent otitis media Delayed cranial suture closure Ectopic kidney Melanocytic nevus Prominent supraorbital ridges Partial duplication of the distal phalanx of the hallux Hoarse voice Wide anterior fontanel Omphalocele Phalangeal dislocation Short nose Advanced tarsal ossification Lumbar spinal canal stenosis Small epiphyses of the phalanges of the hand Spatulate ribs Fragmented, irregular epiphyses Ulnar metaphyseal irregularity Radial metaphyseal irregularity Fragmented epiphyses Childhood onset short-limb short stature Ventricular septal defect Irregular carpal bones Flared femoral metaphysis Cervical cord compression Cervical instability Cervical myelopathy Ulnar deviation of the wrist High palate Long philtrum Decreased testosterone in males Ventricular hypertrophy Bilateral single transverse palmar creases Spina bifida Aortic valve stenosis Sparse and thin eyebrow Abnormal form of the vertebral bodies Mitral regurgitation Microdontia Abnormality of cardiovascular system morphology Highly arched eyebrow Thick eyebrow Talipes Broad forehead Microtia Camptodactyly of finger Camptodactyly Atlantoaxial dislocation Hamartomatous polyposis Aortic regurgitation Alopecia Abnormal vertebral morphology Type II diabetes mellitus Bilateral sensorineural hearing impairment Short foot Sensory neuropathy Delayed puberty Intellectual disability, mild Short long bone Shortening of all middle phalanges of the toes Brachytelomesophalangy Shortening of all distal phalanges of the toes Osteoarthritis of the small joints of the hand Short middle phalanx of toe Short distal phalanx of toe Radial deviation of finger Hypogonadotrophic hypogonadism Hyperinsulinemia Carpal bone hypoplasia Genu recurvatum Myelopathy Ulnar deviation of the hand Decreased serum estradiol Decreased serum testosterone level Intestinal polyposis Beaking of vertebral bodies Upper limb undergrowth Scaling skin Insulin-resistant diabetes mellitus Hypoplasia of the odontoid process Spinal canal stenosis Abnormal joint morphology Abnormality of the hip bone Bowing of the legs Rickets Spina bifida occulta Widely spaced teeth Bifid distal phalanx of the thumb Abnormality of the kidney Nail dysplasia Abdominal distention Renal cyst Flat face Smooth philtrum Postnatal growth retardation Narrow mouth Broad thumb Respiratory failure Glaucoma Osteoporosis Obesity Malar flattening Respiratory distress Anteverted nares Depressed nasal ridge Horseshoe kidney Myopia Generalized osteoporosis Large joint dislocations Advanced ossification of carpal bones Long upper lip Vertebral clefting Hypoplastic vertebral bodies Open angle glaucoma Flat acetabular roof Coxa vara Protuberant abdomen Cystic hygroma Congenital glaucoma Abnormality of the hand Short metatarsal Sandal gap Microretrognathia Intrauterine growth retardation Epicanthus Delayed gross motor development Thin ribs Mitral stenosis Short 4th metacarpal High anterior hairline Barrel-shaped chest Abnormality of the elbow Thoracic kyphosis Vertebral fusion Shield chest Hallux valgus Hypoplasia of the ulna Tricuspid regurgitation Heart murmur Cubitus valgus Sparse eyebrow Elbow dislocation Disproportionate short-trunk short stature Hypoplasia of the capital femoral epiphysis Depressed nasal bridge Intervertebral space narrowing Intellectual disability Fixed elbow flexion Deviation of the 5th finger Generalized bone demineralization Intervertebral disc degeneration Tricuspid stenosis Narrow vertebral interpedicular distance Ulnar bowing Sclerotic vertebral endplates Shoulder dislocation Knee dislocation Decreased hip abduction Abnormality of the carpal bones Spinal deformities Frontal upsweep of hair Double-layered patella



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