Arthritis, and Clinodactyly of the 5th finger

Diseases related with Arthritis and Clinodactyly of the 5th finger

In the following list you will find some of the most common rare diseases related to Arthritis and Clinodactyly of the 5th finger that can help you solving undiagnosed cases.


Top matches:

Medium 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

Medium match LESCH-NYHAN SYNDROME; LNS


LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

Medium match METATROPIC DYSPLASIA


Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood.

METATROPIC DYSPLASIA Is also known as metatropic dwarfism

Related symptoms:

  • Short stature
  • Hearing impairment
  • Scoliosis
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about METATROPIC DYSPLASIA

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Other less relevant matches:

Medium match PERIPHERAL DYSOSTOSIS


Peripheral dysostosis is a rare primary bone dysplasia characterized by cone-shaped epiphyses of the phalanges, hyperextensibility and hyperflexibility of the fingers and marked delay in ossification of hand bones. Short-limbed short stature, very stubby, short fingers and toes, flat face and nose and a large skull may also be associated. There have been no further descriptions in the literature since 1980.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Growth delay
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about PERIPHERAL DYSOSTOSIS

Medium 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 FLOATING-HARBOR SYNDROME


Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR 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

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

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 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

Top 5 symptoms//phenotypes associated to Arthritis and Clinodactyly of the 5th finger

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Clinodactyly Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Kyphoscoliosis Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Arthritis and Clinodactyly of the 5th finger. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Skeletal dysplasia

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Brachydactyly

Uncommon Symptoms - Between 30% and 50% cases


Malar flattening Global developmental delay Motor delay Abnormal facial shape Short metacarpal Hypertelorism Enlarged joints Pes planus Short neck Joint dislocation Joint laxity Hearing impairment Dilatation Depressed nasal bridge Kyphosis Obesity Intrauterine growth retardation Generalized hypotonia Abnormality of the skeletal system High palate Micrognathia Joint stiffness Growth delay Talipes equinovarus Muscular hypotonia Small hand Flexion contracture Finger clinodactyly Platyspondyly Camptodactyly of finger Short metatarsal Macrocephaly Hip dislocation Hypoplasia of the maxilla Mandibular prognathia Hypothyroidism Severe short stature Myopia Hypospadias Postnatal growth retardation Midface retrusion Smooth philtrum Cryptorchidism Genu valgum Cleft palate Pectus excavatum Delayed speech and language development Epiphyseal dysplasia

Rare Symptoms - Less than 30% cases


Hernia Ventricular septal defect Atrial septal defect Retrognathia Proptosis Posteriorly rotated ears Frontal bossing Downslanted palpebral fissures Underdeveloped nasal alae Respiratory distress Hyperactivity Hypertension Epicanthus Anteverted nares Short nose Edema Diabetes mellitus Asthma Finger syndactyly Round face Highly arched eyebrow Eczema Short femoral neck Rhinitis Cone-shaped epiphyses of the phalanges of the hand Thick eyebrow Otitis media Lumbar hyperlordosis Feeding difficulties in infancy Low-set ears Abnormality of the hand Abnormality of cardiovascular system morphology Inguinal hernia Delayed skeletal maturation Gastroesophageal reflux Thin upper lip vermilion Conductive hearing impairment Intellectual disability, moderate Wide mouth Strabismus Short philtrum Prominent nasal bridge Long eyelashes Neurological speech impairment Small for gestational age Broad thumb Cubitus valgus Joint hyperflexibility Prominent nose Sandal gap Microcephaly Camptodactyly Exotropia Microdontia Pectus carinatum Broad forehead Arachnodactyly Thin vermilion border Rhizomelia Bowing of the long bones Mitral valve prolapse Mitral regurgitation Wide intermamillary distance Seizures Celiac disease Microretrognathia Waddling gait Short distal phalanx of finger Hallux valgus Irregular vertebral endplates Disproportionate tall stature Hyperlordosis High anterior hairline Craniosynostosis Ptosis Hydrocephalus Long thorax Abnormal form of the vertebral bodies Hyperreflexia Dysarthria Short finger Multiple joint dislocation Spondyloepiphyseal dysplasia Vomiting Cataract Behavioral abnormality Interphalangeal joint contracture of finger Respiratory failure High forehead Flattened epiphysis Multiple carpal ossification centers Coronal cleft vertebrae Gait disturbance Aggressive behavior Pseudoarthrosis Clumsiness Intellectual disability, mild Rigidity Anisospondyly Arthralgia Mild short stature Multiple epiphyseal dysplasia Bilateral talipes equinovarus Limb undergrowth Narrow chest Pain Micromelia Advanced tarsal ossification Short 4th metacarpal Abnormality of dental morphology Truncal obesity Cerebral hemorrhage Large joint dislocations Constriction of peripheral visual field Partial duplication of the distal phalanx of the hallux Rheumatoid arthritis Phalangeal dislocation Failure to thrive in infancy Intracranial hemorrhage Radioulnar synostosis Bifid distal phalanx of the thumb Hiatus hernia Advanced ossification of carpal bones Generalized osteoporosis Macular edema Furrowed tongue Deep venous thrombosis Generalized joint laxity Misalignment of teeth Facial hypotonia Short 1st metacarpal Vocal cord paralysis Microglossia Gingivitis Broad femoral neck Abnormality of the hip bone Open angle glaucoma Hypoplastic vertebral bodies Posterior subcapsular cataract Peripheral visual field loss Vertebral clefting Long upper lip Thoracic scoliosis Subcapsular cataract Weak cry Narrow nasal bridge Precocious puberty Abnormality of retinal pigmentation Reduced number of teeth Broad first metatarsal Retinal detachment High, narrow palate Thick vermilion border Retinal dystrophy Iris coloboma Joint hypermobility Abnormality of skin pigmentation Retinal degeneration Astigmatism Delayed puberty Tapered finger Synophrys Severe global developmental delay Radioulnar dislocation Medial deviation of the foot Stroke Nyctalopia Retinopathy Paralysis Protruding ear Respiratory tract infection Proximal fibular overgrowth Single transverse palmar crease Laryngomalacia Gingival overgrowth Recurrent skin infections Venous thrombosis Leukopenia Intellectual disability, progressive Low anterior hairline Supernumerary metacarpal bones Preauricular skin tag Progressive microcephaly Bone spicule pigmentation of the retina Tall stature Neutropenia Open mouth High myopia Decreased fetal movement Narrow forehead Pigmentary retinopathy Progressive visual loss Convex nasal ridge Aciduria Growth hormone deficiency Microcornea Flat acetabular roof Thick hair Protuberant abdomen Macrotia Heart murmur Sparse eyebrow Elbow dislocation Delayed gross motor development Tricuspid stenosis Widely spaced teeth Aortic regurgitation Spina bifida occulta Bilateral single transverse palmar creases Intervertebral disc degeneration Generalized bone demineralization Hypoplasia of the ulna Limited hip extension Spina bifida Deviation of the 5th finger Fixed elbow flexion Agenesis of corpus callosum Polyhydramnios Brain atrophy Abnormality of epiphysis morphology Lymphedema Aortic valve stenosis Tricuspid regurgitation Intervertebral space narrowing Molar tooth sign on MRI Small epiphyses Abnormality of the elbow Thoracic kyphosis Mitral stenosis Short humerus Arthropathy Thin ribs Vertebral fusion Tibial bowing Limited elbow extension Disproportionate short-trunk short stature Shield chest Narrow vertebral interpedicular distance Irregular epiphyses Hypoplasia of the capital femoral epiphysis Ulnar bowing Frontal upsweep of hair Spinal deformities Abnormality of the carpal bones Short thorax Decreased hip abduction Knee dislocation Shoulder dislocation Sclerotic vertebral endplates Sparse and thin eyebrow Immunodeficiency Abnormality of the larynx Granulocytopenia High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Hemeralopia Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Bull's eye maculopathy Prominent eyelashes Macrodontia Iris atrophy Genu varum Barrel-shaped chest Metaphyseal widening Thoracic hypoplasia Congenital glaucoma Tapetoretinal degeneration Recurrent aphthous stomatitis Cystic hygroma Aplasia/Hypoplasia of the earlobes Thick corpus callosum Macrodontia of permanent maxillary central incisor Osteoporosis Delayed eruption of teeth Glaucoma Ventricular hypertrophy Narrow mouth Pulmonary arterial hypertension Osteopenia Abnormality of the kidney Flat face Renal cyst Abdominal distention Nail dysplasia Depressed nasal ridge Disproportionate short-limb short stature Talipes Pulmonic stenosis Horseshoe kidney Coxa valga Microtia Coxa vara Long philtrum Slender toe Cat cry Hypoplastic philtrum Childhood-onset truncal obesity Neonatal hypotonia Dental malocclusion Reduced visual acuity Abnormality of the intervertebral disk Relatively short spine Snail-like ilia Flared humeral metaphysis Short diaphyses Hypoplastic cervical vertebrae Flared femoral metaphysis Abnormal enchondral ossification Cervical instability Severe platyspondyly Caudal appendage Thoracic kyphoscoliosis Long coccyx Rough bone trabeculation Spondylometaphyseal dysplasia Flared iliac wings Abnormal cortical bone morphology Fetal akinesia sequence Aplasia/Hypoplasia of the lungs Hypoplasia of the odontoid process Abnormal joint morphology Multiple joint contractures Akinesia Short ribs Abnormal metaphyseal vascular invasion Dumbbell-shaped metaphyses Abnormality of the ribs Red hair Bicuspid aortic valve Joint contracture of the hand Blue sclerae Postaxial hand polydactyly Bifid uvula Bruising susceptibility Facial asymmetry Dolichocephaly Patent ductus arteriosus Chronic rhinitis Fair hair Halberd-shaped pelvis Blue irides Spinal canal stenosis Congenital hypothyroidism Cone-shaped epiphysis Increased intracranial pressure Accelerated skeletal maturation Type I diabetes mellitus Short phalanx of finger Autism Absent primary metaphyseal spongiosa Hyperplasia of the femoral trochanters Abnormality of the metaphysis Peripheral axonal neuropathy Ectopia lentis Double-layered patella Chorea Nephropathy Hematuria Irritability Renal insufficiency Dystonia Hypertonia Dysphagia Anemia Spasticity Abnormality of the patella Choreoathetosis Hypoplasia of the femoral head Limited elbow flexion Knee pain Hip subluxation Flat capital femoral epiphysis Abnormality of the knee Metatarsus adductus Short middle phalanx of finger Metaphyseal irregularity Growth abnormality Hip dysplasia Abnormality of extrapyramidal motor function Recurrent urinary tract infections Confusion Dyslexia Arthrogryposis multiplex congenita Low-set, posteriorly rotated ears Prominent forehead Respiratory insufficiency Podagra Bladder stones Excessive purine production Hyperuricosuria Facial grimacing Testicular atrophy Focal dystonia Megaloblastic anemia Nephrolithiasis Gout Self-mutilation Hyperuricemia Opisthotonus Athetosis Proximal placement of thumb Oral-pharyngeal dysphagia Self-injurious behavior Cerebral palsy Spastic gait Stereotypy Arnold-Chiari malformation Aortic aneurysm Rod-cone dystrophy Lipoma Tethered cord Broad columella Hyperextensibility of the finger joints Speech apraxia 11 pairs of ribs Villous atrophy Enuresis Short attention span Abnormality of the clavicle Short columella Sprengel anomaly Spinal dysraphism Short clavicles Proportionate short stature High pitched voice Preauricular pit Impulsivity Clubbing Language impairment Trigonocephaly Abnormality of the voice Nasal speech Abnormality of the fingernails Stiff neck Short upper lip Generalized hirsutism Failure to thrive Cerebellar hypoplasia Visual loss Thrombocytopenia Recurrent infections Microphthalmia Blindness Cardiomyopathy Optic atrophy Visual impairment Sensorineural hearing impairment Nystagmus Expressive language delay Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Broad fingertip Curved fingers Enlarged naris Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Persistent left superior vena cava Varicocele Nephrocalcinosis Short thumb Myopathic facies Thoracic aortic aneurysm Bicuspid pulmonary valve Generalized arterial tortuosity Descending thoracic aorta aneurysm Pulmonary artery aneurysm Multiple suture craniosynostosis Cystic medial necrosis Ascending aortic dissection Dural ectasia Unilateral ptosis Arterial tortuosity Ascending tubular aorta aneurysm Neoplasm Dermal translucency Long toe Sagittal craniosynostosis Spondylolisthesis Narrow nose Soft skin Scaphocephaly Dilatation of the cerebral artery Aortic root aneurysm Abnormality of the sternum Atrophic scars Biconvex vertebral bodies Cognitive impairment Recurrent otitis media Malabsorption Short palpebral fissure Low posterior hairline Apraxia Coarctation of aorta Hypoplasia of penis Broad nasal tip Triangular face Downturned corners of mouth Hirsutism Bulbous nose Poor speech Hypermetropia Wide nasal bridge Telecanthus Anxiety Hydronephrosis Deeply set eye Umbilical hernia Upslanted palpebral fissure Constipation Babinski sign Abnormal heart morphology Headache Abnormality of the dentition Splayed fingers



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