Arthritis, and Malar flattening

Diseases related with Arthritis and Malar flattening

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


Top matches:

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA TARDA


Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest.

Related symptoms:

  • Short stature
  • Scoliosis
  • Pain
  • Abnormality of the skeletal system
  • Short neck


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA TARDA

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

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

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Other less relevant matches:

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 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 KNIEST DYSPLASIA


Kniest dysplasia is a severe type II collagenopathy characterized by a short trunk and limbs, prominent joints and midface hypoplasia (round face with a flat nasal root).

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KNIEST DYSPLASIA

Medium match ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A


Freeman-Sheldon syndrome (FSS), or DA2A, is phenotypically similar to DA1. In addition to contractures of the hands and feet, FSS is characterized by oropharyngeal abnormalities, scoliosis, and a distinctive face that includes a very small oral orifice (often only a few millimeters in diameter at birth), puckered lips, and an H-shaped dimple of the chin; hence, FSS has been called 'whistling face syndrome.' The limb phenotypes of DA1 and FSS may be so similar that they can only be distinguished by the differences in facial morphology (summary by Bamshad et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of distal arthrogryposis, see DA1 (OMIM ).

ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A Is also known as craniocarpotarsal dysplasia|fss|craniocarpotarsal dystrophy|whistling face-windmill vane hand syndrome|freeman-sheldon syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ARTHROGRYPOSIS, DISTAL, TYPE 2A; DA2A

Medium match SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC


Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS


Spondyloepimetaphyseal dysplasia with multiple dislocations is a rare genetic primary bone dysplasia disorder characterized by midface hypoplasia, short stature, generalized joint laxity, multiple joint dislocations (most frequently of knees and hips), limb malalignment (genu valgum/varum) and progressive spinal deformity (e.g. kyphosis/scoliosis). Radiography reveals distinctive slender metacarpals and metatarsals, as well as small, irregular epiphyses, metaphyseal irregularities with vertical striations, constricted femoral necks and mild platyspondyly, among others.

SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS Is also known as semd-md|semdjl2|spondyloepimetaphyseal dysplasia with joint laxity type 2|spondyloepimetaphyseal dysplasia with joint laxicity, hall type|spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type|spondyloepimetaphyseal dysplasia with multiple

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH MULTIPLE DISLOCATIONS

Medium match OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA


Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.

OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA Is also known as chondrodystrophy with sensorineural deafness|weissenbacher-zweymuller syndrome, formerly|nance-insley syndrome|osmed|nance-sweeney chondrodysplasia|wzs, formerly

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism
  • Micrognathia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OTOSPONDYLOMEGAEPIPHYSEAL DYSPLASIA

Top 5 symptoms//phenotypes associated to Arthritis and Malar flattening

Symptoms // Phenotype % cases
Osteoarthritis Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Midface retrusion Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Platyspondyly Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Arthritis and Malar flattening. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Cleft palate

Uncommon Symptoms - Between 30% and 50% cases


Short neck Short nose Hip dislocation Hypertelorism Scoliosis Epiphyseal dysplasia Micrognathia Retinal detachment Depressed nasal bridge Abnormality of epiphysis morphology Kyphosis Pectus carinatum Myopia Anteverted nares Skeletal dysplasia Sensorineural hearing impairment Abnormality of the skeletal system Glossoptosis Vitreoretinopathy Generalized hypotonia Micromelia Spondyloepiphyseal dysplasia Arthralgia Glaucoma Hyperlordosis Intellectual disability Inguinal hernia Abnormal joint morphology Arthropathy Long philtrum Cataract Enlarged joints Talipes equinovarus Pierre-Robin sequence Joint dislocation Genu valgum Muscle weakness Joint stiffness Macrocephaly Kyphoscoliosis Pain High myopia Abnormality of the metaphysis Lumbar hyperlordosis Flared metaphysis Coxa vara Short thorax Disproportionate short stature Pectus excavatum Flexion contracture Rhizomelia

Rare Symptoms - Less than 30% cases


Hypertension Cryptorchidism Short long bone Growth delay Global developmental delay Epicanthus Conductive hearing impairment Delayed epiphyseal ossification Proptosis Mandibular prognathia Severe short stature Respiratory distress Gait disturbance Round face Short metacarpal Underdeveloped nasal alae Strabismus Ptosis Coronal cleft vertebrae Short phalanx of finger Enlarged thorax Abnormal form of the vertebral bodies Genu varum Abnormality of the skin Talipes Obesity Congenital hip dislocation Hypoplasia of the odontoid process Irregular vertebral endplates Barrel-shaped chest Multiple epiphyseal dysplasia Muscular hypotonia Flat face Exostoses Premature osteoarthritis Enlarged epiphyses Abnormal facial shape Low-set ears Motor delay Frontal bossing Tracheomalacia Hip contracture Retinopathy Limb undergrowth Ovoid vertebral bodies Respiratory tract infection Osteoporosis Apnea Polydactyly Hernia Congestive heart failure Pes planus Joint laxity Abnormal lung morphology Elevated serum creatine phosphokinase Joint hyperflexibility Nystagmus Back pain Chin with H-shaped crease Whistling appearance Growth abnormality Wide nose Sleep apnea Autoimmunity Atrial septal defect Intellectual disability, mild Limitation of joint mobility Limited elbow movement Progressive sensorineural hearing impairment Flattened epiphysis Retinal degeneration Restrictive ventilatory defect Cervical myelopathy Limited hip movement Vestibular dysfunction Pulmonary hypoplasia Bowing of the legs Myelopathy Paresthesia Waddling gait Delayed pubic bone ossification Narrow chest Sciatica Neonatal short-trunk short stature Limitation of knee mobility Broad forehead Delayed calcaneal ossification Retinoschisis Laryngotracheomalacia Broad nasal tip Short palm Abnormal calcification of the carpal bones Slender proximal phalanx of finger Caudal interpedicular narrowing Slender distal phalanx of finger Long distal phalanx of finger Long proximal phalanx of finger Delayed phalangeal epiphyseal ossification Ventricular septal defect Delayed skeletal maturation Muscular hypotonia of the trunk Feeding difficulties in infancy Bulbous nose Otitis media Delayed patellar ossification Depressed nasal ridge Encephalocele Recurrent pneumonia Prominent supraorbital ridges Mixed hearing impairment Occipital encephalocele Synostosis of carpal bones Meningocele Beaking of vertebral bodies Short 5th metacarpal Prominent interphalangeal joints Abnormal lacrimal duct morphology Large tarsal bones Streaky metaphyseal sclerosis Narrow femoral neck Nail dysplasia Hypoplasia of the capital femoral epiphysis Stridor Metaphyseal irregularity Dislocated radial head Thoracic scoliosis Soft skin Thoracolumbar scoliosis Generalized joint laxity Upper airway obstruction Spondyloepimetaphyseal dysplasia Generalized osteoporosis Small epiphyses Irregular epiphyses Carpal bone hypoplasia Slender metacarpals Broad distal phalanx of finger Thoracolumbar kyphosis Flat capital femoral epiphysis Spinal dysraphism Inspiratory stridor Abnormal sacrum morphology Laryngeal stenosis Abnormal bone ossification Ulnar deviation of the hand or of fingers of the hand Narrow vertebral interpedicular distance Large joint dislocations Abnormality of the patella Posterior scalloping of vertebral bodies Shoulder flexion contracture Splayed epiphyses Abnormal auditory evoked potentials Type I diabetes mellitus Intrauterine growth retardation Hypospadias Clinodactyly of the 5th finger Diabetes mellitus Hyperactivity Autism Hypothyroidism Small hand Hypoplasia of the maxilla Asthma Eczema Accelerated skeletal maturation Delayed speech and language development Increased intracranial pressure Short metatarsal Cone-shaped epiphysis Mild short stature Congenital hypothyroidism Spinal canal stenosis Rhinitis Cone-shaped epiphyses of the phalanges of the hand Blue irides Fair hair Red hair Brachydactyly Abnormal metacarpal morphology Depressivity Abnormality of the eye Upper limb undergrowth Thoracic kyphosis Hypoplastic iliac wing Avascular necrosis of the capital femoral epiphysis Synovitis Osteochondritis Dissecans Hip pain Hip osteoarthritis Knee pain Cervical subluxation Childhood-onset short-trunk short stature Cleft soft palate Abnormal vitreous humor morphology Clinodactyly Agenesis of corpus callosum Polyhydramnios Finger syndactyly Brain atrophy Lymphedema Molar tooth sign on MRI Arachnodactyly Joint hypermobility Bifid uvula Mitral valve prolapse Long fingers Chronic rhinitis Retrognathia Flexion contracture of toe Pterygium Postnatal growth retardation Blepharophimosis Small for gestational age Arthrogryposis multiplex congenita Dental malocclusion Intellectual disability, profound Joint contracture of the hand Knee flexion contracture Spina bifida occulta Adducted thumb Nasal speech Rheumatoid arthritis Telecanthus Congenital contracture Hypoplasia of the brainstem Rocker bottom foot Mask-like facies Atrophy/Degeneration affecting the brainstem Distal arthrogryposis Malignant hyperthermia Trismus Breech presentation Dimple chin Overbite Camptodactyly Deeply set eye Umbilical hernia Dumbbell-shaped long bone Recurrent otitis media Ectopia lentis Neonatal respiratory distress Chorioretinal atrophy Bell-shaped thorax Tracheal stenosis Hypoplastic pelvis Disproportionate short-trunk short stature Hypoplastic ilia Lens luxation Rhegmatogenous retinal detachment Lumbar kyphoscoliosis Narrow mouth Flattened, squared-off epiphyses of tubular bones Abnormal cartilage collagen Seizures Microcephaly Failure to thrive High palate Wide nasal bridge Fever Myopathy Cerebellar atrophy Hypertonia Prominent forehead Aplasia/Hypoplasia of the capital femoral epiphysis



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