Arthritis, and Pectus excavatum

Diseases related with Arthritis and Pectus excavatum

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


Top matches:

Medium match OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD


Osteochondrodysplasia, brachydactyly, and overlapping malformed digits (OCBMD) is characterized by bilateral symmetric skeletal defects that primarily affect the limbs. Affected individuals have mild short stature due to shortening of the lower leg bones, as well as hand and foot malformations, predominantly brachydactyly and overlapping digits. Other skeletal defects include scoliosis, dislocated patellae and fibulae, and pectus excavatum (Shabbir et al., 2018).

Related symptoms:

  • Short stature
  • Scoliosis
  • Neoplasm
  • Pain
  • Brachydactyly


SOURCES: OMIM MENDELIAN

More info about OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS; OCBMD

Medium match ULERYTHEMA OPHRYOGENESIS


Ulerythema ophryogenesis is characterised by inflammatory keratotic papules occurring on the face, which may be followed by scars, atrophy and alopecia. Prevalence is unknown but the disease, affecting mainly children and young adults, is rare. Erythema with mild hyperkeratosis of the hair follicles resulting in rough papules is observed on the cheeks and lateral aspects of the eyebrows. The disorder occasionally extends to the adjacent scalp, ears and forehead and rarely to the extensor surfaces of the limbs. Symptoms regress with age, although loss of the lateral aspects of the eyebrows can occur. Many cases occur sporadically; autosomal dominant inheritance has also been reported. There is no particular treatment, but patients should avoid sun exposure without UV protection.

Related symptoms:

  • Skeletal muscle atrophy
  • Pectus excavatum
  • Alopecia
  • Arthritis
  • Erythema


SOURCES: ORPHANET OMIM MENDELIAN

More info about ULERYTHEMA OPHRYOGENESIS

Medium match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA


Otospondylomegaepiphyseal dysplasia (OSMED) is characterized by sensorineural deafness and relatively short extremities with abnormally large knees and elbows but normal total body length. The diagnostic radiologic findings are the enlarged epiphyses combined with a moderate platyspondyly, most marked in the lower thoracic region. There are no ocular abnormalities. Patients have typical facial features, including midface hypoplasia (summary by Giedion et al., 1982). Some patients have osteoarthritis (Brunner et al., 1994).

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA Is also known as osmed, heterozygous|weissenbacher-zweymuller syndrome|pierre robin syndrome with fetal chondrodysplasia stickler syndrome, nonocular type, formerly|stl3, formerly|stickler syndrome, type iii, formerly|wzs

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Myopia


SOURCES: OMIM MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT; OSMEDA

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Other less relevant matches:

Medium 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

Medium match STICKLER SYNDROME TYPE 3


Stickler syndrome type 3 is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by craniofacial dysmorphism (midface hypoplasia, depressed nasal bridge, small nose with upturned tip, cleft palate, Pierre Robin sequence), bilateral, pronounced sensorineural hearing loss, and skeletal/joint anomalies (including spondyloepiphyseal dysplasia, arthralgia/arthropathy), in the absence of ocular abnormalities.

STICKLER SYNDROME TYPE 3 Is also known as stickler syndrome, vitreous type 2|stickler syndrome, beaded vitreous type|stickler syndrome, non-ocular type

Related symptoms:

  • Hearing impairment
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about STICKLER SYNDROME TYPE 3

Medium match HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1


Primary hypertrophic osteoarthropathy is a familial disorder characterized by digital clubbing and osteoarthropathy, with variable features of pachydermia, delayed closure of the fontanels, and congenital heart disease. Secondary hypertrophic osteoarthropathy, or pulmonary hypertrophic osteoarthropathy, is a different disorder characterized by digital clubbing secondary to acquired diseases, most commonly intrathoracic neoplasm (Uppal et al., 2008).Touraine et al. (1935) recognized pachydermoperiostosis as a familial disorder with 3 clinical presentations or forms: a complete form characterized by periostosis and pachydermia; an incomplete form with bone changes but without pachydermia; and a 'forme fruste' with pachydermia and minimal skeletal changes. Genetic HeterogeneityPHOAR2 (OMIM ) is caused by mutation in the SLCO2A1 gene (OMIM ) on chromosome 3q22.1-q22.2.Families with an autosomal dominant form of primary hypertrophic osteoarthropathy have also been reported (PHOAD ).

HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1 Is also known as pho, autosomal recessive|pachydermoperiostosis, autosomal recessive|pdp, autosomal recessive|touraine-solente-gole syndrome

Related symptoms:

  • Growth delay
  • Neoplasm
  • Cleft palate
  • Pain
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about HYPERTROPHIC OSTEOARTHROPATHY, PRIMARY, AUTOSOMAL RECESSIVE, 1; PHOAR1

Medium match LOEYS-DIETZ SYNDROME 5; LDS5


Loeys-Dietz syndrome-5 (LDS5), also known as Rienhoff (pronounced REENhoff) syndrome, is characterized by syndromic presentation of aortic aneurysms involving the thoracic and/or abdominal aorta, with risk of dissection and rupture. Other systemic features include cleft palate, bifid uvula, mitral valve disease, skeletal overgrowth, cervical spine instability, and clubfoot deformity; however, not all clinical features occur in all patients. In contrast to other forms of LDS (see {609192}), no striking aortic or arterial tortuosity is present in these patients, and there is no strong evidence for early aortic dissection (summary by Bertoli-Avella et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of Loeys-Dietz syndrome, see LDS1 (OMIM ).

LOEYS-DIETZ SYNDROME 5; LDS5 Is also known as rienhoff syndrome|rnhf

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Growth delay
  • Hypertelorism


SOURCES: OMIM MENDELIAN

More info about LOEYS-DIETZ SYNDROME 5; LDS5

Medium 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

Medium 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

Medium 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

Top 5 symptoms//phenotypes associated to Arthritis and Pectus excavatum

Symptoms // Phenotype % cases
Osteoarthritis Common - Between 50% and 80% cases
Cleft palate Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
Pectus carinatum Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Pectus excavatum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short stature High palate Micrognathia Kyphoscoliosis Pes planus Hypertelorism Mitral valve prolapse Malar flattening Flexion contracture Hearing impairment Motor delay Pain Arthropathy Mitral regurgitation Retrognathia Arachnodactyly Joint hypermobility Myopia Genu valgum Midface retrusion Hip dislocation Aortic regurgitation Talipes equinovarus Retinal detachment

Rare Symptoms - Less than 30% cases


Clinodactyly Aortic dissection Bowing of the long bones Short neck Frontal bossing Spondylolisthesis Generalized hypotonia Tricuspid valve prolapse Inguinal hernia Glaucoma Pulmonary arterial hypertension Delayed skeletal maturation Patent foramen ovale Redundant skin Conductive hearing impairment Camptodactyly Hyperlordosis Abnormality of cardiovascular system morphology Kyphosis Pulmonic stenosis Short distal phalanx of finger Abnormal heart morphology Joint dislocation Osteolytic defects of the phalanges of the hand Ptosis Growth delay Delayed eruption of teeth Long fingers Spondyloepiphyseal dysplasia Bifid uvula Long philtrum Cataract Enlarged joints Abnormal facial shape Pierre-Robin sequence Downslanted palpebral fissures Abnormality of the sternum Respiratory insufficiency Abnormality of the skeletal system Short humerus Thoracic kyphosis Erythema Abnormal cardiac septum morphology Strabismus Dolichocephaly Reduced subcutaneous adipose tissue Epiphora Long face Decreased muscle mass Overgrowth Anisospondyly Ectopia lentis Tall stature Exotropia Brachydactyly Neoplasm Tibial bowing Sparse eyebrow Limited elbow extension Anteverted nares Premature osteoarthritis Cleft soft palate Ventricular septal defect Disproportionate tall stature Exostoses Glossoptosis Epiphyseal dysplasia Dilatation Platyspondyly Hernia Sensorineural hearing impairment Aortic root aneurysm Short thorax Proptosis Skeletal dysplasia Heart murmur Restrictive ventilatory defect Hammertoe Congenital contracture Megalocornea Aortic aneurysm Dilatation of the cerebral artery Open bite Emphysema Large for gestational age Slender finger Striae distensae Rocker bottom foot Subarachnoid hemorrhage Abnormality of the cardiovascular system Back pain Deviation of the 5th finger Visual loss Congestive heart failure Myopathy Edema Peripheral neuropathy Muscle weakness Intellectual disability Fixed elbow flexion Multiple carpal ossification centers Pes cavus Limited hip extension Generalized bone demineralization Intervertebral disc degeneration Tricuspid stenosis Intervertebral space narrowing Narrow vertebral interpedicular distance Sclerotic vertebral endplates Shoulder dislocation Arrhythmia Gastroesophageal reflux Sleep apnea Cardiomegaly Narrow palate Spontaneous abortion Elbow flexion contracture Narrow face Amblyopia Dental crowding Decreased body weight Abnormal lung morphology Esotropia Deeply set eye Dental malocclusion Chest pain Polyneuropathy High, narrow palate Peripheral axonal neuropathy Stroke Apnea Joint laxity Hypoplasia of the iris Microspherophakia Arachnoid cyst Wide anterior fontanel Thoracic hypoplasia Ectopic kidney Flared metaphysis Melanocytic nevus Prominent supraorbital ridges Coarse hair Coxa valga Hoarse voice Omphalocele Atrioventricular canal defect Abnormality of the metaphysis Recurrent otitis media Renal hypoplasia Abnormality of the ribs Oligohydramnios Tetralogy of Fallot Growth hormone deficiency Intestinal malrotation Delayed cranial suture closure Short clavicles Nevus Prune belly Obtuse angle of mandible Ureteral obstruction Abnormality of the pubic bone Frontal hirsutism Hypoplastic facial bones Megacystis Urethral atresia Long neck Ureteral stenosis Cone-shaped epiphyses of the phalanges of the hand Sclerosis of skull base Complete atrioventricular canal defect Craniofacial hyperostosis Small face Abnormal cortical bone morphology Hypoplastic pelvis Hypoplastic scapulae Misalignment of teeth Vesicoureteral reflux Full cheeks Meningocele Thoracic aortic aneurysm Cystic medial necrosis Knee dislocation Hypertropia Flat cornea Hypopnea Protrusio acetabuli Dural ectasia Endocarditis Overbite Overjet Ascending tubular aorta aneurysm Hypoplasia of the musculature Pneumothorax Homocystinuria Low back pain Pulmonary edema Genu recurvatum Obstructive sleep apnea Spontaneous pneumothorax Anisometropia Joint hyperflexibility Pneumonia Facial asymmetry Narrow chest Respiratory tract infection Hydronephrosis High forehead Macrotia Prominent forehead Recurrent respiratory infections Atrial septal defect Increased axial length of the globe Gait disturbance Hypertension Failure to thrive Inferior oblique muscle overaction Medial rotation of the medial malleolus Mitral annular calcification Pulmonary artery dilatation Incisional hernia Multiple joint dislocation Short metacarpal Decreased hip abduction Depressed nasal bridge Osteoporosis Hyperhidrosis Patent ductus arteriosus Abnormal metacarpal morphology Abnormal vitreous humor morphology Retinopathy Multiple epiphyseal dysplasia Coarse facial features Molar tooth sign on MRI Lymphedema Abnormality of epiphysis morphology Brain atrophy Finger syndactyly Polyhydramnios Agenesis of corpus callosum Osteopenia Skin rash Macrocephaly Joint swelling Wide cranial sutures Long clavicles Seborrheic dermatitis Clubbing of fingers Flushing Heart block Growth hormone excess Limitation of joint mobility Thickened calvaria Acne Clubbing Palmoplantar hyperkeratosis Wormian bones Thickened skin Large fontanelles Obesity Low-set ears Eczematoid dermatitis Patellar dislocation Alopecia Skeletal muscle atrophy Short 2nd finger T-cell lymphoma Chronic lymphatic leukemia Lymphoproliferative disorder Abnormality of digit Papule Broad hallux Mild short stature Adducted thumb Lymphoma Postaxial polydactyly Leukemia Polydactyly Scarring Hypotrichosis Enlarged epiphyses Comedo Vitreoretinopathy Abnormal joint morphology High myopia Abnormality of the eye Abnormal perifollicular morphology Sunken cheeks Folliculitis Ichthyosis Follicular hyperkeratosis Abnormal eyebrow morphology Absent eyelashes Atopic dermatitis Aplasia/Hypoplasia of the skin Spinal muscular atrophy Inflammatory abnormality of the skin Hip pain Periostosis Abnormality of the carpal bones Delayed gross motor development Hallux valgus Bilateral talipes equinovarus Hypoplasia of the ulna Tricuspid regurgitation Cubitus valgus Elbow dislocation Widely spaced teeth Vertebral fusion Spina bifida occulta Bilateral single transverse palmar creases Spina bifida Aortic valve stenosis Sparse and thin eyebrow Rhizomelia Abnormal form of the vertebral bodies Short femoral neck Thin ribs Lumbar hyperlordosis Irregular epiphyses Spinal deformities Frontal upsweep of hair Ulnar bowing Flattened epiphysis Hypoplasia of the capital femoral epiphysis Coronal cleft vertebrae Shield chest Irregular vertebral endplates Small epiphyses Disproportionate short-trunk short stature Mitral stenosis Short 4th metacarpal High anterior hairline Barrel-shaped chest Abnormality of the elbow Ventricular hypertrophy Limb undergrowth Subperiosteal bone formation Syncope Long palpebral fissure Celiac disease Cerebral hemorrhage Atrioventricular block Joint contracture of the hand Blue sclerae Bruising susceptibility Hiatus hernia Smooth philtrum Arthrogryposis multiplex congenita Small for gestational age Neonatal hypotonia Brachycephaly Hyporeflexia Muscular hypotonia Soft skin Broad face Microdontia Microtia Wide intermamillary distance Waddling gait Highly arched eyebrow Thick eyebrow Talipes Broad forehead Camptodactyly of finger Graves disease Severe short stature Increased arm span Cervical spine instability Bilateral coxa valga Arterial dissection Ascending aortic dissection Arterial tortuosity Anterior concavity of thoracic vertebrae



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