Arthritis, and Severe short stature

Diseases related with Arthritis and Severe short stature

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


Top matches:

Medium match WINCHESTER SYNDROME; WNCHRS


Winchester syndrome presents with severe osteolysis in the hands and feet and generalized osteoporosis and bone thinning, similar to multicentric osteolysis, nodulosis, and arthropathy (MONA ), but subcutaneous nodules are characteristically absent. Various additional features including coarse face, corneal opacities, gum hypertrophy, and EKG changes have been reported (summary by Zankl et al., 2007).

Related symptoms:

  • Short stature
  • Flexion contracture
  • Severe short stature
  • Osteoporosis
  • Coarse facial features


SOURCES: OMIM MENDELIAN

More info about WINCHESTER SYNDROME; WNCHRS

Medium match HIP DYSPLASIA, BEUKES TYPE


Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develop in childhood and that progress to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing.

HIP DYSPLASIA, BEUKES TYPE Is also known as cilliers-beighton syndrome|hip dysplasia, beukes type|osteoarthropathy, premature degenerative, of hip|bfhd|premature degenerative osteoarthropathy of the hip|beukes familial hip dysplasia

Related symptoms:

  • Scoliosis
  • Pain
  • Kyphosis
  • Severe short stature
  • Kyphoscoliosis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about HIP DYSPLASIA, BEUKES TYPE

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1


Multiple epiphyseal dysplasia type 1 (MED 1) is a form of multiple epiphyseal dysplasia that is characterized by normal or mild short stature, pain in the hips and/or knees, progressive deformity of extremities and early-onset osteoarthrosis. Specific features to MED 1 include a more pronounced involvement of hip joints and gait abnormality and a shorter adult height. MED1 is allelic to pseudoachondroplasia with which it shares clinical and radiological features. The disease follows an autosomal dominant mode of transmission.

MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1 Is also known as med1|edm1|multiple epiphyseal dysplasia, comp-related|polyepiphyseal dysplasia type 1

Related symptoms:

  • Short stature
  • Brachydactyly
  • Gait disturbance
  • Severe short stature
  • Arthralgia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1

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Other less relevant matches:

Medium match FAMILIAL OSTEOCHONDRITIS DISSECANS


Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.

FAMILIAL OSTEOCHONDRITIS DISSECANS Is also known as osteochondritis dissecans and short stature|od|osteochondritis dissecans, short stature, and early-onset osteoarthritis

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Pain
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about FAMILIAL OSTEOCHONDRITIS DISSECANS

Medium match LARON SYNDROME


Laron syndrome is a congenital disorder characterized by marked short stature associated with normal or high serum growth hormone (GH) and low serum insulin-like growth factor-1 (IGF-I) levels which fail to rise after exogenous GH administration.

LARON SYNDROME Is also known as complete growth hormone insensitivity|primary growth hormone insensitivity|gh receptor deficiency|growth hormone receptor deficiency|laron-type dwarfism|short stature due to growth hormone resistance|pituitary dwarfism ii|primary growth hormone resistance

Related symptoms:

  • Intellectual disability
  • Micrognathia
  • Abnormal facial shape
  • Motor delay
  • Brachydactyly


SOURCES: ORPHANET MENDELIAN

More info about LARON SYNDROME

Medium match PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD


Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED.

PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD Is also known as progressive pseudorheumatoid arthropathy of childhood|ppd|spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome|sedt-pa|spondyloepiphyseal dysplasia tarda with progressive arthropathy|progressive pseudorheumatoid dysplasia

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROGRESSIVE PSEUDORHEUMATOID ARTHROPATHY OF CHILDHOOD

Medium match PARASTREMMATIC DWARFISM


Parastremmatic dwarfism is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Brachydactyly
  • Short neck


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about PARASTREMMATIC DWARFISM

Medium match X-LINKED SPONDYLOEPIMETAPHYSEAL DYSPLASIA


X-linked spondyloepimetaphyseal dysplasia is a rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with mesomelic short limbs, leg bowing, lumbar lordosis, brachydactyly, joint laxity and a waddling gait. Radiographs show platyspondyly with central protrusion of anterior vertebral bodies, kyphotic angulation and very short long bones with dysplastic epiphyses and flarred, irregular, cupped metaphyses.

X-LINKED SPONDYLOEPIMETAPHYSEAL DYSPLASIA Is also known as semd, x-linked

Related symptoms:

  • Growth delay
  • Brachydactyly
  • Kyphosis
  • Severe short stature
  • Arthritis


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED SPONDYLOEPIMETAPHYSEAL DYSPLASIA

Medium match SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE


Spondyloepimetaphyseal dysplasia congenita, Strudwick type is characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses).

SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE Is also known as spondylometaphyseal dysplasia|semd, strudwick type|smed, type i|spondylometaepiphyseal dysplasia congenita, strudwick type|semdc|smd|smed, strudwick type|strudwick syndrome|dappled metaphysis syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Cleft palate


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA CONGENITA, STRUDWICK TYPE

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

Top 5 symptoms//phenotypes associated to Arthritis and Severe short stature

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Brachydactyly Common - Between 50% and 80% cases
Osteoarthritis Common - Between 50% and 80% cases
Kyphosis Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Severe short stature. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Platyspondyly Spondyloepiphyseal dysplasia Flexion contracture Joint stiffness Gait disturbance Arthralgia Skeletal dysplasia Kyphoscoliosis Waddling gait Pain Coxa vara Hyperlordosis Short long bone Genu varum Genu valgum Hypoplasia of the odontoid process Micromelia Rheumatoid arthritis Limb undergrowth Arthropathy

Rare Symptoms - Less than 30% cases


Short femoral neck Cleft palate Short phalanx of finger Disproportionate short stature Limited elbow extension Epiphyseal dysplasia Mild short stature Delayed epiphyseal ossification Joint swelling Pectus carinatum Abnormal form of the vertebral bodies Interphalangeal joint contracture of finger Osteoporosis Camptodactyly of finger Lumbar hyperlordosis Abnormal facial shape Depressed nasal bridge High forehead Abnormality of epiphysis morphology Short metacarpal Midface retrusion Hip dysplasia Delayed skeletal maturation Abnormality of the metaphysis Abnormality of the knee Metaphyseal irregularity Flared iliac wings Spondyloepimetaphyseal dysplasia Avascular necrosis of the capital femoral epiphysis Broad femoral neck Intellectual disability Short palm Retinal detachment Anterior wedging of T12 Flat face Myopia Pes planus Long ulna Cone-shaped epiphyses fused within their metaphyses Osteopenia Hypertelorism Inguinal hernia Hernia Respiratory distress Talipes equinovarus Anterior wedging of T11 Long fibula Cone-shaped distal radial epiphysis Peripheral edema Short foot Coxa valga Growth delay Bowing of the legs Short clavicles Cone-shaped epiphyses of the phalanges of the hand Flat acetabular roof Disproportionate short-trunk short stature Delayed ossification of carpal bones Intestinal polyp Stiff neck Prominent styloid process of ulna Narrow pelvis bone Broad phalanx Hemangioma Mucopolysacchariduria Broad metacarpals Hypoplasia of the maxilla Radial deviation of the hand Posterior rib cupping Cone-shaped metacarpal epiphyses Broad long bone diaphyses Increased bone mineral density Prominent forehead Abnormality of the urinary system Abnormal enchondral ossification Abnormal cortical bone morphology Enlarged joints Spondylometaphyseal dysplasia Rough bone trabeculation Thoracic kyphoscoliosis Long thorax Abnormality of the intervertebral disk Caudal appendage Pseudoarthrosis Severe platyspondyly Cervical instability Anisospondyly Aplasia/Hypoplasia of the lungs Flared femoral metaphysis Hypoplastic cervical vertebrae Short diaphyses Flared humeral metaphysis Snail-like ilia Relatively short spine Abnormal metaphyseal vascular invasion Long coccyx Dumbbell-shaped metaphyses Halberd-shaped pelvis Hyperplasia of the femoral trochanters Fetal akinesia sequence Abnormal joint morphology Short thorax Respiratory insufficiency Abnormality of the sternum Protuberant abdomen Anterior rib cupping Hypoplastic pubic bone Narrow greater sacrosciatic notches Delayed pubic bone ossification C1-C2 subluxation Club-shaped proximal femur Metaphyseal dappling Hearing impairment Cataract Hydrocephalus Short finger Clinodactyly of the 5th finger Thoracolumbar scoliosis Respiratory failure Low-set, posteriorly rotated ears Arthrogryposis multiplex congenita Narrow chest Confusion Peripheral axonal neuropathy Abnormality of the ribs Short ribs Akinesia Multiple joint contractures Protein-losing enteropathy Enlarged epiphyses Thoracic kyphosis Accelerated skeletal maturation Multiple epiphyseal dysplasia Irregular epiphyses Small epiphyses Hip osteoarthritis Pseudoepiphyses Premature osteoarthritis Short fourth metatarsal Limited hip movement Frontal bossing Short thumb Growth abnormality Ovoid vertebral bodies Back pain Broad hallux Proportionate short stature Exostoses Abnormality of tibia morphology Low back pain Osteochondritis Dissecans Decreased hip abduction Limited elbow flexion Quadriceps muscle atrophy Abnormality of skeletal physiology Generalized joint laxity Irregular vertebral endplates Motor delay Vertebral fusion Coarse facial features Corneal opacity Subcutaneous nodule Gingival overgrowth Osteolysis Generalized osteoporosis Osteolysis involving bones of the feet Osteolysis involving bones of the upper limbs Falls Overgrowth Flat capital femoral epiphysis Disproportionate short-limb short stature Shallow acetabular fossae Abnormal bone ossification Abnormality of bone mineral density Arthralgia of the hip Irregular capital femoral epiphysis Abnormality of the epiphysis of the femoral head Abnormal ossification involving the femoral head and neck Wide proximal femoral metaphysis Limitation of joint mobility Round face Joint dislocation Micrognathia Hypoglycemia Scleroderma Alopecia Sclerotic vertebral endplates Decreased cervical spine mobility Enlarged interphalangeal joints Enlargement of the proximal femoral epiphysis Morbus Scheuermann Enlarged metacarpophalangeal joints Short neck Edema Vomiting Diarrhea Abdominal pain Flattened epiphysis Hypothyroidism Nail dystrophy Nausea and vomiting Malabsorption Nausea Postural instability Bowing of the long bones Chronic diarrhea Abnormal intestine morphology Cachexia Malnutrition Methylmalonic acidemia Synovitis Delayed puberty Truncal obesity Delayed eruption of teeth Microdontia Hypoplasia of penis Blue sclerae Depressed nasal ridge Hypohidrosis Short toe Hypercholesterolemia Reduced number of teeth High pitched voice Prematurely aged appearance Juvenile rheumatoid arthritis Underdeveloped supraorbital ridges Abnormality of the elbow Abnormality of the skull Abnormality of the endocrine system Aplasia/Hypoplasia involving the nose Hypoplastic nasal bridge Muscle weakness Difficulty walking Camptodactyly Abnormality of the foot Metaphyseal widening Absent primary metaphyseal spongiosa



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