Brachydactyly, and Genu valgum

Diseases related with Brachydactyly and Genu valgum

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


Top matches:

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE


Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits.

MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE Is also known as multiple epiphyseal dysplasia-myopia-deafness syndrome

Related symptoms:

  • Short stature
  • Hearing impairment
  • Cataract
  • Brachydactyly
  • Myopia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, BEIGHTON TYPE

Medium match CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE


Chondrodysplasia with joint dislocations, gPAPP type is a rare, genetic, primary bone dysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, congenital joint dislocations, micrognathia, posterior cleft palate, brachydactyly, short metacarpals and irregular size of the metacarpal epiphyses, supernumerary carpal ossification centers and dysmorphic facial features. In addition, hearing impairment and mild psychomotor delay have also been reported.

CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE Is also known as gpapp deficiency

Related symptoms:

  • Short stature
  • Hearing impairment
  • Growth delay
  • Micrognathia
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE

Medium 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

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Other less relevant matches:

Medium 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

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

Medium 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

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 SMITH-MCCORT DYSPLASIA 2; SMC2


Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC ), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Short stature
  • Pain
  • Brachydactyly
  • Myopia


SOURCES: OMIM MENDELIAN

More info about SMITH-MCCORT DYSPLASIA 2; SMC2

Medium match LOWRY-WOOD SYNDROME


Lowry-Wood syndrome is characterized by the association of epiphyseal dysplasia, short stature, microcephaly and, in the first reported cases, congenital nystagmus. So far, less than 10 cases have been described in the literature. Variable degrees of intellectual deficit have also been reported. Other occasional features include retinitis pigmentosa (see this term) and coxa vara. Transmission appears to be autosomal recessive.

LOWRY-WOOD SYNDROME Is also known as lowry-wood syndrome|lws|epiphyseal dysplasia-microcephaly-nystagmus syndrome

Related symptoms:

  • Intellectual disability
  • Short stature
  • Microcephaly
  • Nystagmus
  • Visual impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about LOWRY-WOOD SYNDROME

Medium match OROFACIODIGITAL SYNDROME XVIII; OFD18


Orofaciodigital syndrome-18 is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features (Thevenon et al., 2016).

OROFACIODIGITAL SYNDROME XVIII; OFD18 Is also known as ofds xviii|oral-facial-digital syndrome, type xviii

Related symptoms:

  • Short stature
  • Abnormal facial shape
  • Brachydactyly
  • Wide nasal bridge
  • Upslanted palpebral fissure


SOURCES: OMIM MENDELIAN

More info about OROFACIODIGITAL SYNDROME XVIII; OFD18

Top 5 symptoms//phenotypes associated to Brachydactyly and Genu valgum

Symptoms // Phenotype % cases
Short stature Common - Between 50% and 80% cases
Platyspondyly Uncommon - Between 30% and 50% cases
Kyphosis Uncommon - Between 30% and 50% cases
Kyphoscoliosis Uncommon - Between 30% and 50% cases
Joint stiffness Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Epiphyseal dysplasia Arthralgia Genu varum Short neck Abnormality of epiphysis morphology Scoliosis Limitation of joint mobility Waddling gait Osteoarthritis Joint dislocation Short metacarpal Severe short stature Wide nasal bridge Hearing impairment Multiple epiphyseal dysplasia Myopia Short phalanx of finger Spondyloepiphyseal dysplasia

Rare Symptoms - Less than 30% cases


Broad femoral neck Hypoplastic pelvis Small forehead Short femoral neck Delayed skeletal maturation Limited elbow extension Intellectual disability Pectus carinatum Thoracolumbar kyphosis Stiff neck Small hand Hip dysplasia Small epiphyses Metaphyseal irregularity Irregular vertebral endplates Coxa vara Flared metaphysis Flexion contracture Abnormal joint morphology Pain Hypoplasia of the odontoid process Disproportionate short-trunk short stature Gait disturbance Irregular epiphyses Flat face Abnormal facial shape Elbow dislocation Micromelia Depressed nasal bridge Growth delay Patellar dislocation Disproportionate short-limb short stature Coxa valga Short palm Round face High forehead Narrow mouth Short metatarsal Mandibular prognathia Myelopathy Barrel-shaped chest Coarse facial features Rhizomelia Pes planus Decreased body weight Joint laxity Hyperlordosis Limb undergrowth Lumbar hyperlordosis Posteriorly rotated ears Intestinal polyp Abnormality of the skeletal system Abnormal intestine morphology Arthritis Nail dystrophy Nausea and vomiting Malabsorption Nausea Postural instability Bowing of the long bones Chronic diarrhea Cachexia Conductive hearing impairment Rheumatoid arthritis Malnutrition Scleroderma Thoracic kyphosis Thoracolumbar scoliosis Protein-losing enteropathy Mucopolysacchariduria Peripheral edema Broad phalanx Flattened epiphysis Cataract Broad metatarsal Sandal gap Cleft lip Short philtrum Prominent nasal bridge Short distal phalanx of finger Postaxial polydactyly Urinary incontinence Abnormal vertebral morphology Recurrent pneumonia Drooling Upslanted palpebral fissure Preaxial polydactyly Short middle phalanx of finger Slender long bone Median cleft lip Diastema Cervical ribs Accessory oral frenulum Square face Polydactyly Abnormality of nail color Arthralgia of the hip Small for gestational age Atlantoaxial instability Abdominal pain Flattened femoral head Microcephaly Nystagmus Visual impairment Intellectual disability, mild Rod-cone dystrophy Hip dislocation Squared iliac bones Astigmatism Abnormality of retinal pigmentation Aplasia/Hypoplasia of the corpus callosum Dislocated radial head Congenital nystagmus Tapetoretinal degeneration Shallow acetabular fossae Multiple joint dislocation Hypothyroidism Tibial bowing Alopecia Abnormality of the face Abnormality of pelvic girdle bone morphology Hypoplasia of the radius Abnormality of the metaphysis Narrow chest Abnormality of the foot Clinodactyly of the 5th finger Coronal craniosynostosis Growth abnormality Hypoplasia of the ulna Bowing of the legs Carpal synostosis Short thorax Short toe Short foot Flat acetabular roof Flared iliac wings Enlarged joints Cone-shaped epiphysis Mesomelia Spondylometaphyseal dysplasia Patellar aplasia Exostoses Short tibia Radial bowing Abnormality of the ulna Hypoplastic fingernail Abnormality of femur morphology Abnormality of tibia morphology Abnormality of the humerus Dorsal subluxation of ulna Diaphyseal thickening Ulnar bowing Aplastic/hypoplastic toenail Madelung deformity Abnormality of the carpal bones Abnormality of the radius Abnormality of calvarial morphology Limited wrist movement Abnormality of the rib cage Carpal bone hypoplasia Diarrhea Vertebral fusion Retinal dysplasia Anonychia Difficulty walking Limb muscle weakness Unsteady gait Short long bone Back pain Spinal canal stenosis Limited hip movement Trismus Beaking of vertebral bodies Hypoplastic ilia Abnormality of the hip bone Hip pain Mild myopia Edema Vomiting Muscle weakness Short fourth metatarsal Aplastic clavicle Mild short stature Caudal appendage Irregular acetabular roof Severe carpal ossification delay Irregular, rachitic-like metaphyses Proptosis Short nose Cleft palate Micrognathia Premature osteoarthritis Delayed epiphyseal ossification Ovoid vertebral bodies Generalized joint laxity Avascular necrosis of the capital femoral epiphysis Asteroid hyalosis Retinal thinning Hip osteoarthritis Pseudoepiphyses Agenesis of incisor



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