Brachydactyly, and Rheumatoid arthritis

Diseases related with Brachydactyly and Rheumatoid arthritis

In the following list you will find some of the most common rare diseases related to Brachydactyly and Rheumatoid arthritis that can help you solving undiagnosed cases.


Top matches:

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 CINCA SYNDROME


Chronic Infantile Neurological, Cutaneous, and Articular (CINCA) syndrome is characterised by skin rash, joint involvement, chronic meningitis with granulocytes and, in some cases, sensorineural hearing loss and ocular signs.

CINCA SYNDROME Is also known as multisystem inflammatory disease, neonatal-onset|nomid syndrome|iomid syndrome|infantile-onset multisystem inflammatory disease|prieur-griscelli syndrome|neonatal-onset multisystem inflammatory disease|chronic neurologic cutaneous and articular syndrome|c

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Growth delay
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about CINCA SYNDROME

Low match SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME


Related symptoms:

  • Brachydactyly
  • Midface retrusion
  • Osteoarthritis
  • Short thumb
  • Developmental stagnation


SOURCES: ORPHANET MENDELIAN

More info about SHORT STATURE-ADVANCED BONE AGE-EARLY-ONSET OSTEOARTHRITIS SYNDROME

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Low match FAMILIAL DIGITAL ARTHROPATHY-BRACHYDACTYLY


Familial digital arthropathy-brachydactyly is characterised by the association of arthropathy of interphalangeal, metacarpophalangeal and metatarsophalangeal joints with brachydactyly of the middle and distal phalanges. It has been described in numerous members from five generations of one large family. Inheritance is autosomal dominant.

Related symptoms:

  • Short stature
  • Brachydactyly
  • Skeletal dysplasia
  • Short distal phalanx of finger
  • Osteoarthritis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FAMILIAL DIGITAL ARTHROPATHY-BRACHYDACTYLY

Low 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

Low match HYPOCHONDROPLASIA


Hypochondroplasia is characterized by disproportionate short stature, mild lumbar lordosis and limited extension of the elbow joints.

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Brachydactyly
  • Macrocephaly
  • Skeletal dysplasia


SOURCES: ORPHANET MENDELIAN

More info about HYPOCHONDROPLASIA

Low match ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA


Angel-shaped phalango-epiphyseal dysplasia (ASPED) is a form of acromelic dysplasia (see this term) characterized by the distinctive radiological sign of angel-shaped middle phalanges, a typical metacarpophalangeal pattern profile (mainly affecting first metacarpals and middle phalanges of second, third and fifth digits, which all appear short), epiphyseal changes in the hips and, in some, abnormal dentition and delayed bone age.

ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA Is also known as asped

Related symptoms:

  • Short stature
  • Pain
  • Brachydactyly
  • Delayed skeletal maturation
  • Joint hyperflexibility


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ANGEL-SHAPED PHALANGO-EPIPHYSEAL DYSPLASIA

Low match SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE


Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE Is also known as smd, kozlowski type

Related symptoms:

  • Short stature
  • Scoliosis
  • Growth delay
  • Depressed nasal bridge
  • Brachydactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE

Low 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

Low 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

Top 5 symptoms//phenotypes associated to Brachydactyly and Rheumatoid arthritis

Symptoms // Phenotype % cases
Osteoarthritis Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Scoliosis Uncommon - Between 30% and 50% cases
Skeletal dysplasia Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Brachydactyly and Rheumatoid arthritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Genu valgum Mild short stature Waddling gait Arthritis Delayed skeletal maturation Genu varum Severe short stature Pain Epiphyseal dysplasia Gait disturbance

Rare Symptoms - Less than 30% cases


Abnormal facial shape Growth delay Irregular epiphyses Short middle phalanx of finger Hip osteoarthritis Disproportionate short stature Growth abnormality Macrocephaly Joint stiffness Frontal bossing Abnormal joint morphology Short thumb Midface retrusion Pseudoepiphyses Premature osteoarthritis Depressed nasal bridge Joint dislocation Arthropathy Intellectual disability Multiple epiphyseal dysplasia Limitation of joint mobility Broad hallux Micromelia Short neck Edema Joint hyperflexibility Hyperlordosis Kyphosis Platyspondyly Nausea and vomiting Kyphoscoliosis Bowing of the long bones Abnormality of epiphysis morphology Hip dysplasia Hypodontia Short middle phalanx of the 5th finger Cone-shaped epiphysis Small hand Abnormality of the foot Narrow chest Pectus carinatum High forehead Hyperextensibility of the finger joints Childhood onset short-limb short stature Pseudoepiphyses of the metacarpals Abnormality of pelvic girdle bone morphology Spinal canal stenosis Hip pain Metaphyseal dysplasia Abnormality of the elbow Delayed ossification of carpal bones Delayed eruption of teeth Abnormality of femur morphology Short 1st metacarpal Flared iliac wings Abnormality of the face Back pain Ovoid vertebral bodies Generalized joint laxity Avascular necrosis of the capital femoral epiphysis Small epiphyses Broad femoral neck Short fourth metatarsal Limited hip movement Lumbar hyperlordosis Accelerated skeletal maturation Limited elbow extension Irregular vertebral endplates Proportionate short stature Joint swelling Exostoses Abnormality of tibia morphology Abnormality of the knee Low back pain Osteochondritis Dissecans Decreased hip abduction Limited elbow flexion Quadriceps muscle atrophy Delayed epiphyseal ossification Short femoral neck Coxa vara Spondylometaphyseal dysplasia Bowing of the legs Flared metaphysis Short thorax Hypoplasia of the odontoid process Flat acetabular roof Disproportionate short-trunk short stature Short toe Enlarged joints Abnormality of the rib cage Carpal bone hypoplasia Spondyloepiphyseal dysplasia Aplastic clavicle Caudal appendage Irregular acetabular roof Severe carpal ossification delay Irregular, rachitic-like metaphyses Short palm Round face Short metacarpal Short phalanx of finger Disproportionate short-limb short stature Sleep apnea Leukemia Abnormal form of the vertebral bodies Fatigue Intestinal polyp Global developmental delay Hearing impairment Sensorineural hearing impairment Anemia Visual impairment Hepatomegaly Fever Blindness Stiff neck Splenomegaly Proptosis Hepatosplenomegaly EEG abnormality Myalgia Skin rash Papule Lymphadenopathy Peripheral edema Mucopolysacchariduria Premature birth Nausea Flexion contracture Vomiting Diarrhea Alopecia Abdominal pain Hypothyroidism Nail dystrophy Malabsorption Postural instability Protein-losing enteropathy Chronic diarrhea Abnormal intestine morphology Cachexia Malnutrition Scleroderma Thoracic kyphosis Thoracolumbar scoliosis Migraine Overgrowth Abnormality of the metaphysis Polydactyly Short distal phalanx of toe Short middle phalanx of toe Osteoarthritis of the small joints of the hand Shortening of all distal phalanges of the toes Brachytelomesophalangy Shortening of all middle phalanges of the toes Neoplasm Pectus excavatum Postaxial polydactyly Short distal phalanx of finger Lymphoma Adducted thumb Abnormality of digit Patellar dislocation Lymphoproliferative disorder Chronic lymphatic leukemia T-cell lymphoma Short 2nd finger Radial deviation of finger Developmental stagnation Meningitis Amyloidosis Vasculitis Purpura Increased intracranial pressure Reduced bone mineral density Urticaria Leukocytosis Elevated erythrocyte sedimentation rate Progressive sensorineural hearing impairment Uveitis Abnormal granulocyte morphology Juvenile rheumatoid arthritis Abnormal thrombocyte morphology Delayed closure of the anterior fontanelle Elevated C-reactive protein level Inflammatory abnormality of the eye Abnormality of neutrophils Pseudopapilledema Retrobulbar optic neuritis Abnormality of skeletal physiology



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Downslanted palpebral fissures and Neonatal hypotonia, related diseases and genetic alterations Hyperreflexia and Hyporeflexia, related diseases and genetic alterations Lymphoma and Lymphedema, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more