Arthritis, and Clinodactyly

Diseases related with Arthritis and Clinodactyly

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

Low 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

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Other less relevant matches:

Low 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

Low 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

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 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 MARFAN SYNDROME; MFS


A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical variability. The cardinal features occur in 3 systems--skeletal, ocular, and cardiovascular (McKusick, 1972; Pyeritz and McKusick, 1979; Pyeritz, 1993). It shares overlapping features with congenital contractural arachnodactyly (OMIM ), which is caused by mutation in the FBN2 gene (OMIM ).Gray and Davies (1996) gave a general review. They published Kaplan-Meier survival curves for a cohort of British Marfan syndrome patients demonstrating greater survivorship in females than in males; a similar result had been reported by Murdoch et al. (1972) and by Silverman et al. (1995). Gray and Davies (1996) also proposed a grading scale for clinical comparison of the Marfan syndrome patients. The authors provided criteria for each grade and suggested uniform use of these scales may facilitate clinicomolecular correlations.

MARFAN SYNDROME; MFS Is also known as marfan syndrome, type i|mfs1

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about MARFAN SYNDROME; MFS

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

Top 5 symptoms//phenotypes associated to Arthritis and Clinodactyly

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Clinodactyly of the 5th finger Common - Between 50% and 80% cases
Intellectual disability 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. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Malar flattening

Uncommon Symptoms - Between 30% and 50% cases


Osteoarthritis Generalized hypotonia Brachydactyly Dilatation Skeletal dysplasia Joint laxity Micrognathia Global developmental delay Abnormality of the skeletal system Myopia Short metacarpal Small hand High palate Intrauterine growth retardation Growth delay Abnormal facial shape Depressed nasal bridge Flexion contracture Muscular hypotonia Kyphosis Hypertelorism Joint stiffness Pes planus Motor delay Obesity Enlarged joints Strabismus Cataract Hearing impairment Gastroesophageal reflux Hypoplasia of the maxilla Mandibular prognathia Delayed speech and language development Hypothyroidism Pectus excavatum Hypospadias Macrocephaly Cleft palate Cryptorchidism Short neck Disproportionate tall stature Arachnodactyly Mitral valve prolapse Exotropia Retrognathia Finger clinodactyly Short metatarsal Pectus carinatum Hernia Joint dislocation Postnatal growth retardation Talipes equinovarus Epiphyseal dysplasia Smooth philtrum Midface retrusion Edema Downslanted palpebral fissures Pain

Rare Symptoms - Less than 30% cases


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



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