Abnormal facial shape, and Genu valgum

Diseases related with Abnormal facial shape and Genu valgum

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


Top matches:

Medium match STICKLER SYNDROME, TYPE IV; STL4


Related symptoms:

  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Myopia
  • Genu valgum


SOURCES: OMIM MENDELIAN

More info about STICKLER SYNDROME, TYPE IV; STL4

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

Mendelian

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

Learn more

Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE STICKLER SYNDROME


Autosomal recessive Stickler syndrome is a rare type of Stickler syndrome (see this term), found in one family to date, caused by a mutation in the COL9A1 gene, and like other dominantly inherited forms of the disease manifesting with opthalmological (myopia, retinal detachment and cataracts), orofacial (micrognathia, midface hypoplasia and cleft palate) auditory (sensorineural hearing loss) and articular (epiphyseal dysplasia) symptoms

Related symptoms:

  • Short stature
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Cataract


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE STICKLER SYNDROME

Medium match EXOSTOSES, MULTIPLE, TYPE I


Multiple hereditary exostoses (EXT) is an autosomal dominant disorder characterized by multiple projections of bone capped by cartilage, most numerous in the metaphyses of long bones, but also occurring on the diaphyses of long bones. Flat bones, vertebrae, and the ribs may also be affected, but the skull is usually not involved. Deformity of the legs, forearms (resembling Madelung deformity), and hands is frequent (Peterson, 1989).Two conditions in which multiple exostoses occur are metachondromatosis (OMIM ) and the Langer-Giedion syndrome (LGS ); the latter condition is also known as trichorhinophalangeal syndrome type II. Furthermore, exostosis-like lesions occur with fibrodysplasia ossificans progressiva (FOP ), occipital horn syndrome (OMIM ), and the adult stage of hereditary hypophosphatemia (see {307800}); these exostoses are located at sites of tendon and muscle attachment. A relatively rare variant of the supracondylar process, on the anteromedial surface of the distal humerus, can be confused with an exostosis; the variant is said to be present in about 1% of persons of European descent (Silverman, 1985).

EXOSTOSES, MULTIPLE, TYPE I Is also known as multiple cartilaginous exostoses|ext1|multiple osteochondromas|diaphyseal aclasis|ext|osteochondromatosis

Related symptoms:

  • Short stature
  • Neoplasm
  • Depressivity
  • Abnormality of the foot
  • Genu valgum


SOURCES: OMIM MENDELIAN

More info about EXOSTOSES, MULTIPLE, TYPE I

Medium match MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE


Multiple epiphyseal dysplasia, Al-Gazali type is a skeletal dysplasia characterized by multiple epiphyseal dysplasia (see this term), macrocephaly and facial dysmorphism.

MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI TYPE Is also known as multiple epiphyseal dysplasia-macrocephaly-distinctive facies syndrome|macrocephaly with multiple epiphyseal dysplasia and distinctive facies|mmedf

Related symptoms:

  • Hypertelorism
  • Abnormal facial shape
  • Low-set ears
  • Motor delay
  • Macrocephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA, AL-GAZALI 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 MUCOLIPIDOSIS TYPE III GAMMA


Mucolipidosis type III gamma (ML 3 gamma) is a very rare lysosomal disease, that has most often been observed in the Middle East, characterized by a progressive slowing of the growth rate in early childhood; stiffness and pain in shoulders, hips, and finger joints; a gradual, mild coarsening of facial features; and by a slower progression, milder clinical course and longer life expectancy than that seen in mucolipidosis type II and mucolipidosis type III alpha/beta. Cognitive function is normal or only slightly impaired and retinitis pigmentosa has been reported in a few patients. Many survive into early adulthood, but ultimately succumb to cardiorespiratory insufficiency.

MUCOLIPIDOSIS TYPE III GAMMA Is also known as ml iii gamma|mucolipidosis type 3 gamma|mucolipidosis iii, iranian variant form|ml 3 gamma|mucolipidosis iiic|ml iiic|mucolipidosis iii, complementation group c|mucolipidosis iii, variant form

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Pain
  • Flexion contracture


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about MUCOLIPIDOSIS TYPE III GAMMA

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 STEEL SYNDROME


Steel syndrome is characterized by characteristic facies, dislocated hips and radial heads, carpal coalition (fusion of carpal bones), short stature, scoliosis, and cervical spine anomalies. The dislocated hips are resistant to surgical intervention (summary by Flynn et al., 2010).

STEEL SYNDROME Is also known as bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome|dislocated hips and radial heads, carpal coalition, scoliosis, and short stature

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about STEEL SYNDROME

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Genu valgum

Symptoms // Phenotype % cases
Short stature Very Common - Between 80% and 100% cases
Myopia Uncommon - Between 30% and 50% cases
Flat face Uncommon - Between 30% and 50% cases
Epiphyseal dysplasia Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Abnormal facial shape and Genu valgum. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Short metacarpal Brachydactyly Arthralgia Hyperlordosis Spondyloepiphyseal dysplasia Multiple epiphyseal dysplasia Pectus carinatum Short neck Joint dislocation Pes planus Short phalanx of finger Pain Sensorineural hearing impairment

Rare Symptoms - Less than 30% cases


Limitation of joint mobility Irregular vertebral endplates Coxa vara Global developmental delay Hypoplasia of the odontoid process Limited elbow extension Rhizomelia Lumbar hyperlordosis Hypertelorism Scoliosis Clinodactyly Joint stiffness Flexion contracture Finger syndactyly Hip dislocation Abnormality of the skeletal system Osteoarthritis Mild short stature Kyphosis Hip dysplasia Platyspondyly Severe short stature Coarse facial features Abnormality of epiphysis morphology Broad femoral neck Malar flattening Wide nasal bridge Astigmatism Retinal detachment Vitreoretinopathy Flat capital femoral epiphysis Cataract Narrow mouth Short palm Round face Micrognathia Cleft palate Thoracolumbar kyphosis Atlantoaxial instability Bilateral sensorineural hearing impairment Opacification of the corneal stroma Congenital hip dislocation Aortic valve stenosis Finger clinodactyly Cardiomegaly Bilateral talipes equinovarus Syndactyly Broad metatarsal Dislocated radial head Arthralgia of the hip Thoracic scoliosis Talipes Synostosis of carpal bones Lower limb asymmetry Intellectual disability, mild Anteverted nares Talipes equinovarus Acetabular dysplasia Shallow acetabular fossae Small forehead Flattened femoral head Limited hip movement Short fourth metatarsal Thin vermilion border Aortic regurgitation Myelopathy Small hand Disproportionate short-trunk short stature Hypoplastic pelvis Barrel-shaped chest Midface retrusion Clinodactyly of the 5th finger Metaphyseal irregularity Short metatarsal Prominent forehead Decreased body weight Broad forehead Limb undergrowth Joint laxity Abnormality of the hand Kyphoscoliosis Mandibular prognathia Premature osteoarthritis Posteriorly rotated ears Intellectual disability Increased serum beta-hexosaminidase Increased serum iduronate sulfatase activity Delayed speech and language development Abnormality of the rib cage Flared iliac wings Broad phalanx Dysostosis multiplex Flattened epiphysis Molar tooth sign on MRI Pseudoepiphyses Abnormality of the foot Patellar dislocation Coronal craniosynostosis Joint hyperflexibility Amblyopia Neoplasm Depressivity Hemangioma Short toe Sarcoma Hypophosphatemia Short finger Pathologic fracture Exostoses Osteosarcoma Carpal synostosis Short foot Chondrosarcoma Coxa valga High myopia Severe sensorineural hearing impairment Rhegmatogenous retinal detachment Irregular capital femoral epiphysis Degenerative vitreoretinopathy Conductive hearing impairment Anonychia High forehead Retinal dysplasia Retinal thinning Asteroid hyalosis Growth delay Short nose Proptosis Madelung deformity Multiple exostoses Hip osteoarthritis Genu varum Lymphedema Enlarged joints Gait disturbance Micromelia Waddling gait Disproportionate short-limb short stature Short femoral neck Polyhydramnios Delayed epiphyseal ossification Ovoid vertebral bodies Generalized joint laxity Avascular necrosis of the capital femoral epiphysis Irregular epiphyses Small epiphyses Brain atrophy Agenesis of corpus callosum Cervical myelopathy Protuberances at ends of long bones Osteochondroma Pelvic bone exostoses Enchondroma Rib exostoses Scapular exostoses Peripheral nerve compression Madelung-like forearm deformities Inguinal hernia Low-set ears Motor delay Macrocephaly Frontal bossing Obesity Pectus excavatum Dislocation of the femoral head



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Split hand, related diseases and genetic alterations Autoimmunity and Cerebellar vermis hypoplasia, related diseases and genetic alterations Macrocephaly and Syncope, related diseases and genetic alterations Tremor and Hypoplasia of the corpus callosum, related diseases and genetic alterations Nystagmus and Metabolic acidosis, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more