Arthritis, and Hip dislocation

Diseases related with Arthritis and Hip dislocation

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


Top matches:

Medium match LEGG-CALVÉ-PERTHES DISEASE


Legg-Calve-Perthes disease (LCPD) is the term used to describe uni- or bilateral avascular necrosis (AVN) of the femoral head in children.

LEGG-CALVÉ-PERTHES DISEASE Is also known as legg-perthes disease|osteochondrosis of the capital femoral epiphysis|perthes disease|aseptic necrosis of the capital femoral epiphysis|lcp|osteochondritis of the capital femoral epiphysis

Related symptoms:

  • Short stature
  • Pain
  • Skeletal muscle atrophy
  • Abnormality of the dentition
  • Depressivity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about LEGG-CALVÉ-PERTHES DISEASE

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 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 EHLERS-DANLOS SYNDROME TYPE 7B


Arthrochalasia-type EDS is distinguished from other types of EDS by the frequency of congenital hip dislocation and extreme joint laxity with recurrent joint subluxations and minimal skin involvement (Byers et al., 1997; Giunta et al., 2008).For a discussion of genetic heterogeneity of arthrochalasia-type EDS, see {130060}.

EHLERS-DANLOS SYNDROME TYPE 7B Is also known as eds viib|ehlers-danlos syndrome, type viib, autosomal dominant|eds7b

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about EHLERS-DANLOS SYNDROME TYPE 7B

Medium match EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2


Ehlers-Danlos syndrome classic-like-2 is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. Variable features include gastrointestinal and genitourinary manifestations, such as bowel rupture, gut dysmotility, cryptorchidism, and hernias; vascular complications, such as mitral valve prolapse and aortic root dilation; and skeletal anomalies (Blackburn et al., 2018).See {606408} for another classic-like EDS syndrome. For a discussion of the classification of EDS, see {130000}.

Related symptoms:

  • Micrognathia
  • Abnormal facial shape
  • Cryptorchidism
  • Ptosis
  • Abnormality of the skeletal system


SOURCES: OMIM MENDELIAN

More info about EHLERS-DANLOS SYNDROME, CLASSIC-LIKE, 2; EDSCLL2

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

Low 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

Low 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

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Arthritis and Hip dislocation

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Short neck Common - Between 50% and 80% cases
Malar flattening Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Arthritis and Hip dislocation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of epiphysis morphology Joint dislocation Generalized hypotonia Kyphosis Pain Hyperlordosis Skeletal dysplasia Muscle weakness Intellectual disability Platyspondyly Inguinal hernia Micrognathia Congenital hip dislocation Talipes equinovarus Hearing impairment Cleft palate Short nose Abnormal facial shape Flexion contracture Hypertelorism Depressed nasal bridge Motor delay Macrocephaly Muscular hypotonia Osteoporosis Ptosis Hernia Genu valgum Pes planus Midface retrusion Glaucoma Spondyloepiphyseal dysplasia Micromelia Abnormality of the skeletal system Kyphoscoliosis Pectus carinatum Coxa vara Epiphyseal dysplasia Short thorax

Rare Symptoms - Less than 30% cases


Delayed epiphyseal ossification Vitreoretinopathy Hip contracture Enlarged thorax Tracheomalacia Talipes Flat face Bruising susceptibility Genu varum Hyperextensible skin Joint hyperflexibility Hallux valgus Atrophic scars Abnormality of the metaphysis Flared metaphysis Soft skin Cryptorchidism Rhizomelia Thoracic scoliosis Global developmental delay High myopia Hypertonia Intellectual disability, mild Retinal detachment Cataract Myopia Gait disturbance Respiratory distress Joint laxity Severe short stature Umbilical hernia Depressivity Disproportionate short stature Lumbar hyperlordosis Low-set ears Synovitis Clinodactyly Avascular necrosis of the capital femoral epiphysis Irregular vertebral endplates Barrel-shaped chest Multiple epiphyseal dysplasia Arthralgia Frontal bossing Hypoplasia of the odontoid process Enlarged joints Hypertension Overbite Pulmonary hypoplasia Malignant hyperthermia Trismus Retinal degeneration Paresthesia Breech presentation Dimple chin Narrow chest Broad forehead Autoimmunity Sensorineural hearing impairment Flexion contracture of toe Abnormal auditory evoked potentials Respiratory tract infection Ulnar deviation of the hand or of fingers of the hand Apnea Polydactyly Congestive heart failure Whistling appearance Chin with H-shaped crease Growth delay Nystagmus Shoulder flexion contracture Atrophy/Degeneration affecting the brainstem Distal arthrogryposis Dental malocclusion Long philtrum Prominent forehead Narrow mouth Mandibular prognathia Deeply set eye Telecanthus Camptodactyly Postnatal growth retardation Blepharophimosis Small for gestational age Arthrogryposis multiplex congenita Abnormality of the dentition Underdeveloped nasal alae Waddling gait Abnormality of the skin Intellectual disability, profound Joint contracture of the hand Knee flexion contracture Spina bifida occulta Adducted thumb Nasal speech Pterygium Rheumatoid arthritis Congenital contracture Hypoplasia of the brainstem Rocker bottom foot Mask-like facies Limitation of joint mobility Abnormal form of the vertebral bodies Limb undergrowth Abnormal bone ossification Upper airway obstruction Spondyloepimetaphyseal dysplasia Generalized osteoporosis Small epiphyses Irregular epiphyses Hypoplasia of the capital femoral epiphysis Carpal bone hypoplasia Broad distal phalanx of finger Thoracolumbar kyphosis Flat capital femoral epiphysis Spinal dysraphism Inspiratory stridor Abnormal sacrum morphology Laryngeal stenosis Laryngotracheomalacia Thoracolumbar scoliosis Narrow vertebral interpedicular distance Large joint dislocations Abnormality of the patella Posterior scalloping of vertebral bodies Slender metacarpals Narrow femoral neck Delayed patellar ossification Streaky metaphyseal sclerosis 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 Generalized joint laxity Dislocated radial head Abnormal lung morphology Limited hip movement Myopathy Sleep apnea Growth abnormality Skeletal muscle atrophy Back pain Bowing of the legs Vestibular dysfunction Restrictive ventilatory defect Progressive sensorineural hearing impairment Ovoid vertebral bodies Myelopathy Limited elbow movement Flattened epiphysis Cervical myelopathy Retinoschisis Abnormal joint morphology Delayed pubic bone ossification Sciatica Neonatal short-trunk short stature Limitation of knee mobility Delayed calcaneal ossification Anteverted nares Atrial septal defect Elevated serum creatine phosphokinase Wide nose Broad nasal tip Nail dysplasia Short long bone Stridor Metaphyseal irregularity Cerebellar atrophy Seizures Fever Dystonia Ventral hernia Bursitis Pectus excavatum Obesity Spasticity Anemia Delayed speech and language development Hyperreflexia Dysarthria Dysphagia Vomiting Childhood-onset short-trunk short stature Behavioral abnormality Cervical subluxation Squared iliac bones Renal insufficiency Clinodactyly of the 5th finger Rigidity Aggressive behavior Irritability Hematuria Nephropathy Chorea Abnormality of extrapyramidal motor function Choreoathetosis Clumsiness Recurrent urinary tract infections Nephrolithiasis Shoulder dislocation Knee dislocation Spastic gait Subcutaneous hemorrhage Joint hypermobility Recurrent fractures Blue sclerae Wormian bones Delayed gross motor development Molar tooth sign on MRI Lymphedema Brain atrophy Fragile skin Finger syndactyly Hyperextensibility of the finger joints Poor wound healing Excessive wrinkled skin Polyhydramnios Thin eyebrow Agenesis of corpus callosum Macrotia Osteopenia Scarring Papule Webbed neck Mitral valve prolapse Low posterior hairline Narrow palate Cutis laxa Redundant skin Bilateral ptosis Abnormality of the vasculature Stereotypy Finger clinodactyly Wide nasal bridge Coronal cleft vertebrae Ectopia lentis Neonatal respiratory distress Chorioretinal atrophy Arthropathy Lower limb asymmetry Aseptic necrosis Glossoptosis Bell-shaped thorax Hyperkinesis Tracheal stenosis Hypoplastic pelvis Disproportionate short-trunk short stature Hypoplastic ilia Delayed skeletal maturation Recurrent otitis media Lens luxation Rhegmatogenous retinal detachment Dumbbell-shaped long bone Lumbar kyphoscoliosis Splayed epiphyses Flattened, squared-off epiphyses of tubular bones Abnormal cartilage collagen Gastroesophageal reflux Microcephaly Failure to thrive Strabismus High palate Epicanthus Cartilage destruction Round face Cerebral palsy Hyperuricosuria Self-injurious behavior Oral-pharyngeal dysphagia Proximal placement of thumb Athetosis Opisthotonus Hyperuricemia Self-mutilation Gout Megaloblastic anemia Dyslexia Focal dystonia Testicular atrophy Facial grimacing Excessive purine production Retinopathy Bladder stones Podagra Knee pain Hip osteoarthritis Hip pain Osteochondritis Dissecans Hypoplastic iliac wing Thoracic kyphosis Upper limb undergrowth Proptosis Retrognathia Conductive hearing impairment Joint stiffness Delayed phalangeal epiphyseal ossification



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