Brachydactyly, and Arthritis

Diseases related with Brachydactyly and Arthritis

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


Top matches:

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

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

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Other less relevant matches:

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

Low match SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE


Spondyloepiphyseal dysplasia with accumulation of glycoprotein in chondrocytes has been designated the 'Stanescu type.' Clinical hallmarks include progressive joint contracture with premature degenerative joint disease, particularly in the knee, hip, and finger joints. Interphalangeal joints of the hands are swollen due to osseous distention of the metaphyseal ends of the phalanges. Affected individuals may be relatively tall despite the presence of a short trunk. Radiologically, there is generalized platyspondyly with mild modification of the endplates, hypoplastic pelvis, epiphyseal flattening with metaphyseal splaying of the long bones, and enlarged phalangeal epimetaphyses of the hands. In addition, the proximal femora are characteristically broad and elongated with striking coxa valga (summary by Nishimura et al., 1998).

SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE Is also known as sed, stanescu type

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Muscle weakness
  • Pain
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA, STANESCU TYPE

Low 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

Top 5 symptoms//phenotypes associated to Brachydactyly and Arthritis

Symptoms // Phenotype % cases
Osteoarthritis Very Common - Between 80% and 100% cases
Short stature Common - Between 50% and 80% cases
Waddling gait Uncommon - Between 30% and 50% cases
Delayed skeletal maturation Uncommon - Between 30% and 50% cases
Arthralgia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Scoliosis Pain Genu varum Genu valgum Epiphyseal dysplasia Mild short stature Joint stiffness Skeletal dysplasia Gait disturbance Severe short stature

Rare Symptoms - Less than 30% cases


Limitation of joint mobility Hip pain Spinal canal stenosis Abnormality of the elbow Back pain Delayed eruption of teeth Hip dysplasia Abnormality of epiphysis morphology Multiple epiphyseal dysplasia Irregular epiphyses Hip osteoarthritis Abnormal joint morphology Irregular vertebral endplates Pseudoepiphyses Premature osteoarthritis Depressed nasal bridge Midface retrusion Abnormal facial shape Kyphosis High forehead Short toe Kyphoscoliosis Growth abnormality Platyspondyly Spondyloepiphyseal dysplasia Flared metaphysis Short thumb Hyperlordosis Broad hallux Disproportionate short stature Short middle phalanx of finger Intellectual disability Joint hyperflexibility Micromelia Quadriceps muscle atrophy Limited elbow flexion Abnormality of skeletal physiology Proportionate short stature Hearing impairment Decreased hip abduction Osteochondritis Dissecans Low back pain Abnormality of the knee Abnormality of tibia morphology Exostoses Muscle weakness Joint swelling Abnormal form of the vertebral bodies Lumbar hyperlordosis Limited elbow extension Accelerated skeletal maturation Myopia Frontal bossing Developmental stagnation Limited hip movement Short fourth metatarsal Broad femoral neck Small epiphyses Avascular necrosis of the capital femoral epiphysis Generalized joint laxity Ovoid vertebral bodies Delayed epiphyseal ossification Flexion contracture Unsteady gait Difficulty walking Delayed puberty Aplasia/Hypoplasia involving the nose Abnormality of the endocrine system Abnormality of the skull Underdeveloped supraorbital ridges Prematurely aged appearance Truncal obesity High pitched voice Reduced number of teeth Hypercholesterolemia Hypohidrosis Depressed nasal ridge Blue sclerae Hypoplasia of penis Microdontia Hypoglycemia Limb muscle weakness Motor delay Micrognathia Mild myopia Thoracolumbar kyphosis Stiff neck Hypoplastic ilia Hypoplastic pelvis Beaking of vertebral bodies Trismus Vertebral fusion Metaphyseal irregularity Short long bone Coxa valga Short femoral neck Short distal phalanx of finger Short phalanx of finger Radial deviation of finger Short middle phalanx of the 5th finger Neoplasm Pectus excavatum Polydactyly Short neck Leukemia Postaxial polydactyly Growth delay Pseudoepiphyses of the metacarpals Lymphoma Adducted thumb Abnormality of digit Delayed ossification of carpal bones Hyperextensibility of the finger joints Patellar dislocation Shortening of all middle phalanges of the toes Lymphoproliferative disorder Short 1st metacarpal Metaphyseal dysplasia Cone-shaped epiphysis Chronic lymphatic leukemia T-cell lymphoma Short 2nd finger Hypodontia Macrocephaly Childhood onset short-limb short stature Abnormality of femur morphology Abnormality of pelvic girdle bone morphology Sleep apnea Abnormality of the metaphysis Pectus carinatum Narrow chest Disproportionate short-limb short stature Enlarged joints Joint dislocation Bowing of the long bones Short metacarpal Round face Short palm Irregular, rachitic-like metaphyses Severe carpal ossification delay Irregular acetabular roof Caudal appendage Aplastic clavicle Carpal bone hypoplasia Spondylometaphyseal dysplasia Abnormality of the rib cage Flared iliac wings Abnormality of the foot Disproportionate short-trunk short stature Flat acetabular roof Hypoplasia of the odontoid process Arthropathy Short thorax Short distal phalanx of toe Bowing of the legs Short middle phalanx of toe Coxa vara Abnormality of the face Osteoarthritis of the small joints of the hand Shortening of all distal phalanges of the toes Small hand Brachytelomesophalangy Hypoplastic nasal bridge



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