Brachydactyly, and Joint stiffness

Diseases related with Brachydactyly and Joint stiffness

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


Top matches:

Low match WEILL-MARCHESANI SYNDROME 3; WMS3


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by short stature, brachydactyly, joint stiffness, and lens abnormalities (Faivre et al., 2002).For a general phenotypic description and a discussion of genetic heterogeneity of WMS, see {277600}.

Related symptoms:

  • Short stature
  • Brachydactyly
  • Myopia
  • Joint stiffness
  • Pulmonic stenosis


SOURCES: OMIM MENDELIAN

More info about WEILL-MARCHESANI SYNDROME 3; WMS3

Low match ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE


Acromesomelic dysplasia, Maroteaux type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height >120 cm), both axial and appendicular involvement (shortening of the middle and distal segments of limbs and vertebral shortening), and with normal facial appearance and intelligence. It is a less severe form than acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Hunter-Thomson type (see these terms).

Related symptoms:

  • Scoliosis
  • Depressed nasal bridge
  • Brachydactyly
  • Frontal bossing
  • Kyphosis


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE

Low match MULTIPLE SYNOSTOSES SYNDROME


Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints.

MULTIPLE SYNOSTOSES SYNDROME Is also known as wl syndrome|facio-audio-symphalangism|symphalangism-brachydactyly syndrome|deafness-hermann type symphalangism syndrome

Related symptoms:

  • Brachydactyly
  • Conductive hearing impairment
  • Joint stiffness
  • Facial asymmetry
  • Short palm


SOURCES: ORPHANET MENDELIAN

More info about MULTIPLE SYNOSTOSES SYNDROME

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Other less relevant matches:

Low match ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME


Weill-Marchesani syndrome is a rare connective tissue disorder characterized by microspherophakia, severe myopia, acute and/or chronic glaucoma, and cataract. Other features include brachydactyly and short stature. Patients may also have stiff joints and thickened skin, especially on the hands. Occasionally, cardiac defects or an abnormal heart rhythm is present (summary by Shah et al., 2014).For a discussion of genetic heterogeneity of Weill-Marchesani syndrome, see WMS1 (OMIM ).

ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME Is also known as wmsl|weill-marchesani-like syndrome|15q26.3 microdeletion syndrome

Related symptoms:

  • Short stature
  • Cataract
  • Brachydactyly
  • Myopia
  • Optic atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ICHTHYOSIS-SHORT STATURE-BRACHYDACTYLY-MICROSPHEROPHAKIA SYNDROME

Low match ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE


Acromesomelic dysplasia, Hunter-Thomson type is an autosomal recessively inherited form of acromesomelic dysplasia (see this term) characterized by severe dwarfism (adult height approximately 120 cm) with abnormalities limited to the limbs (affecting the lower limbs more than upper limbs, with middle and distal segments being the most affected), severe shortening, absence or fusion of tubular bones of hands and feet and large joint dislocations. As seen in acromesomelic dysplasia, Grebe type and acromesomelic dysplasia, Maroteaux type (see these terms), facial features and intelligence are normal.

ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE Is also known as acromesomelic dwarfism

Related symptoms:

  • Scoliosis
  • Cognitive impairment
  • Brachydactyly
  • Joint stiffness
  • Neurological speech impairment


SOURCES: ORPHANET MENDELIAN

More info about ACROMESOMELIC DYSPLASIA, HUNTER-THOMPSON TYPE

Low match BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME


Brachydactyly-elbow wrist dysplasia syndrome is a rare, genetic bone development disorder characterized by dysplasia of all the bony components of the elbow joint, abnormally shaped carpal bones, wrist joint radial deviation and brachydactyly. Patients typically present with slight flexion at the elbow joints (with impossibilty to perform active extension) and usually associate a limited range of motion of the elbow, wrist and finger articulations. Camptodactyly and syndactyly have also been reported.

BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME Is also known as brachydactyly-joint dysplasia syndrome|liebenberg syndrome|brachydactyly with joint dysplasia|synostosis, carpal, with dysplastic elbow joints and brachydactyly

Related symptoms:

  • Brachydactyly
  • Macrocephaly
  • Talipes equinovarus
  • Clinodactyly of the 5th finger
  • Camptodactyly


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRACHYDACTYLY-ELBOW WRIST DYSPLASIA SYNDROME

Low match LÉRI-WEILL DYSCHONDROSTEOSIS


Léri-Weill dyschondrosteosis (LWD) is a skeletal dysplasia marked by disproportionate short stature and the characteristic Madelung wrist deformity (see this term).

LÉRI-WEILL DYSCHONDROSTEOSIS Is also known as lÉri-weill syndrome

Related symptoms:

  • Depressed nasal bridge
  • Brachydactyly
  • Wide nasal bridge
  • Clinodactyly of the 5th finger
  • Joint stiffness


SOURCES: ORPHANET MENDELIAN

More info about LÉRI-WEILL DYSCHONDROSTEOSIS

Low match GELEOPHYSIC DYSPLASIA 3; GPHYSD3


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GELEOPHYSIC DYSPLASIA 3; GPHYSD3

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 Joint stiffness

Symptoms // Phenotype % cases
Short stature Uncommon - Between 30% and 50% cases
Depressed nasal bridge Uncommon - Between 30% and 50% cases
Short palm Uncommon - Between 30% and 50% cases
Elbow dislocation Uncommon - Between 30% and 50% cases
Abnormality of the ulna Rare - less than 30% cases
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Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases


Short metacarpal Short thumb Mild short stature Osteoarthritis Clinodactyly of the 5th finger Waddling gait Arthralgia Severe short stature Gait disturbance Abnormality of the carpal bones Abnormality of the humerus Cone-shaped epiphysis Epiphyseal dysplasia Wide nasal bridge Genu valgum Micromelia Round face Disproportionate short-limb short stature Genu varum Exostoses Abnormality of tibia morphology Abnormal facial shape Thickened skin Abnormality of pelvic girdle bone morphology Bilateral single transverse palmar creases Ectopia lentis Disproportionate short stature Hyperlordosis Ovoid vertebral bodies Frontal bossing Scoliosis Microspherophakia Acromesomelia Increased intraocular pressure Myopia Dyspnea Anteverted nares Dorsal subluxation of ulna Abnormality of the knee Low back pain Sleep apnea Hepatomegaly Hoarse voice Mitral regurgitation Limb undergrowth Osteochondritis Dissecans Quadriceps muscle atrophy Limited elbow flexion Long philtrum Pneumonia Full cheeks Decreased hip abduction Joint swelling Respiratory failure Small hand Thick vermilion border Bulbous nose Apnea Pulmonary artery stenosis Limited elbow extension Subglottic stenosis Generalized joint laxity Delayed skeletal maturation Midface retrusion Pain Limited hip movement Short fourth metatarsal Arthritis Premature osteoarthritis Pseudoepiphyses Hip osteoarthritis Broad femoral neck Small epiphyses Irregular epiphyses Avascular necrosis of the capital femoral epiphysis Multiple epiphyseal dysplasia Lumbar hyperlordosis Proportionate short stature Accelerated skeletal maturation Abnormality of calvarial morphology Delayed epiphyseal ossification Irregular vertebral endplates Short femoral neck Growth abnormality Spondyloepiphyseal dysplasia Joint dislocation Short phalanx of finger Back pain Hip dysplasia Broad hallux Limitation of joint mobility Skeletal dysplasia Limited wrist movement Hypoplasia of the radius Abnormality of the radius Abnormality of the nail Hip dislocation Neurological speech impairment Cognitive impairment Phakodonesis Retinal hole Iridodonesis Mydriasis Anterior synechiae of the anterior chamber Exotropia High myopia Glaucoma Optic atrophy Cataract Symphalangism affecting the phalanges of the hand Broad thumb Patellar dislocation Facial asymmetry Conductive hearing impairment Vertebral wedging Beaking of vertebral bodies Sprengel anomaly Bowing of the long bones Abnormal form of the vertebral bodies Joint hyperflexibility Dolichocephaly Prominent forehead Kyphosis Shallow anterior chamber Aortic valve stenosis Pulmonic stenosis Tarsal synostosis Abnormality of the ankles Madelung deformity Radially deviated wrists Aplastic/hypoplastic toenail Ulnar bowing Diaphyseal thickening Patellar aplasia Abnormality of femur morphology Hypoplastic fingernail Radial bowing Short tibia Abnormality of the hip bone Tibial bowing Mesomelia Hypoplasia of the ulna Abnormality of epiphysis morphology Abnormality of the metaphysis Long metacarpals Severe short-limb dwarfism Abnormality of the fingernails Cuboidal metacarpal Abnormally shaped carpal bones Macrocephaly Talipes equinovarus Camptodactyly Elbow flexion contracture Metaphyseal widening 2-3 finger syndactyly Aplasia/Hypoplasia of the radius Synostosis of carpal bones Carpal synostosis Ridged nail Joint contracture of the 5th finger Abnormality of the distal phalanx of finger Abnormality of skeletal physiology



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