Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. [malacards.org]

One categorization is: Variant restricted growth Proportionate short stature (PSS) Disproportionate short stature (DSS) Each of these categories includes a number of types and causes of short stature. [medicalnewstoday.com]

Autosomal recessive inheritance Short stature Scoliosis Abnormal facial shape Myopia SOURCES: DOID UMLS GARD ORPHANET SCTID MONDO OMIM More info about DENTAL ANOMALIES AND SHORT STATURE; DASS Top 5 symptoms//phenotypes associated to Myopia and Skeletal [mendelian.co]

Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands. [emedicine.medscape.com]

Mutations or deletions of one of these genes lead to growth hormone deficiency, resulting in short stature. [intechopen.com]

Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. [malacards.org]

One categorization is: Variant restricted growth Proportionate short stature (PSS) Disproportionate short stature (DSS) Each of these categories includes a number of types and causes of short stature. [medicalnewstoday.com]

Autosomal recessive inheritance Short stature Scoliosis Abnormal facial shape Myopia SOURCES: DOID UMLS GARD ORPHANET SCTID MONDO OMIM More info about DENTAL ANOMALIES AND SHORT STATURE; DASS Top 5 symptoms//phenotypes associated to Myopia and Skeletal [mendelian.co]

Note moderate short stature, flat facial profile (fetal face–like appearance), short forearms, and small hands. [emedicine.medscape.com]

Mutations or deletions of one of these genes lead to growth hormone deficiency, resulting in short stature. [intechopen.com]

Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. [malacards.org]

Joint pain is usually worse after physical exercise. Pain and loss of motion in the shoulders may occur in adulthood. [rarediseases.org]

[…] hypermobility COL5A1 or COL5A2 mutation; t ype V collagen (co-expressed with type I collagen) Hypermobility - Type III (hypermobile) autosomal dominant large and small joint hypermobility, recurring joint subluxations/dislocations, velvety soft skin, chronic pain [orthobullets.com]

Study Guide Key Points: MED is a common skeletal dysplasia, inherited in an autosomal dominant fashion, with the most common mutations affecting COMP or Collagen IX Presentation is usually due to joint pain or contractures, and the spine is not affected [posna.org]

The cardinal clinical manifestations of affected individuals were painful weight-bearing large joints, which started in late childhood or adolescence. [link.springer.com]

Features include: an average-sized trunk short limbs, especially the upper arms and legs short fingers, possibly with a wide space between the middle and ring fingers limited mobility in the elbows a large head with a prominent forehead and flattened [medicalnewstoday.com]

Surgical procedures may be recommended to treat abnormalities of the knee. Investigational Therapies A registry for skeletal dysplasias has been set up at the University of California Los Angeles. [rarediseases.org]

UniProtKB/Swiss-Prot : 76 Multiple epiphyseal dysplasia with myopia and conductive deafness: A generalized skeletal dysplasia associated with significant morbidity. [malacards.org]

Diagnosis and management Diagnosis of skeletal dysplasias requires a multidisciplinary approach and includes radiologic and genetic evaluations. [emedicine.medscape.com]

Skeletal dysplasias are a heterogeneous group of more than 200 disorders characterized by abnormalities of cartilage and bone growth CONSIDERATIONS A primary objective in the evaluation of skeletal dysplasias is to determine lethal from non lethal dysplasias [perinatology.com]

Disruptions to these processes lead to growth plate dysplasia and result in a heterogeneous group of genetic diseases known as skeletal dysplasias that are characterised predominantly by short-limb dwarfism. [ncl.ac.uk]

Diseases related with Myopia and Skeletal dysplasia In the following list you will find some of the most common rare diseases related to Myopia and Skeletal dysplasia that can help you solving undiagnosed cases. [mendelian.co]

Unlike previously reported cases with the Ribbing type, the present patients did not have short stature or brachydactyly. This report expands further the phenotypic variations of COMP defects. [link.springer.com]

[…] callosum,hydrocephalus, cardiac defect, kidney malformation AD Type I (most common) Telephone receiver femora, normal skull Lethal Type II Cloverleaf-shaped skull Lethal Achondroplasia Common FGFR3 AD Heterozygous Macrocephaly Rhizomelia Trident hand Brachydactyly [perinatology.com]

[…] heterozygous parents of those with Robinow syndrome do not have brachydactyly. 18, 19 Similarly, heterozygous IHH mutations cause brachydactyly type A1 (BDA1), whereas homozygous mutations cause acrocapital femoral dysplasia (ACFD) with no manifestations [jmg.bmj.com]

EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH MYOPIA AND CONDUCTIVE DEAFNESS; EDMMD Is also known as ;multiple epiphyseal dysplasia-myopia-deafness syndrome Related symptoms: Autosomal dominant inheritance Short stature Hearing impairment Cataract Brachydactyly [mendelian.co]

12.3.4 Brachydactyly.- 12.3.5 Ectrodactyly.- 13. Mucopolysaccharidoses and Other Storage Disorders.- 13.1 MPS I-H(Hurler Syndrome).- 13.2 MPS II(Hunter Syndrome).- 13.3 MPS IV(Morquio Syndrome).- 13.4 Gaucher Disease.- 14. [buecher.de]

Affiliated tissues include bone and eye, and related phenotypes are genu valgum and epiphyseal dysplasia [malacards.org]

SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE Is also known as spondylometaphyseal dysplasia, schmidt type, spondylometaphyseal dysplasia with severe genu valgum;spondylometaphyseal dysplasia with severe genu valgum; spondylometaphyseal dysplasia, algerian [mendelian.co]

Progressive genu valgum and increased flexion contractures of knees and hips are now compromising the walking ability of the patient. PREVIOUS ORTHOPAEDIC TREATMENT: Feet: bilateral taping and serial casts. PMLR on the left foot (at age 9 months). [gait.aidi.udel.edu]

In rare cases, additional symptoms may occur including a hip deformity in which the thigh bone is angled toward the center of the body (cox vara), bowed legs (genu varum), and ‘knock knees’ (genu valgum), a condition in which the legs bend inward so that [rarediseases.org]

valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta (see this term) of both primary and permanent dentition. [mendelian.co]

Delayed femoral head appearing, coxa valga or, on the contrary, coxa vara are common findings. Valgus deformity of the knees, associated to flexion contracture, is another common finding. [gait.aidi.udel.edu]

Osteoarthritis Malar flattening Spondyloepiphyseal dysplasia Vitreoretinal degeneration Autosomal recessive inheritance Scoliosis Retinopathy Rare Symptoms - Less than 30% cases Pierre-Robin sequence Anteverted nares Coxa vara Short palm Pectus carinatum Arthralgia [mendelian.co]

Affected individuals also experience early onset of inflammation, pain and stiffness in affected joints (early-onset arthritis) that can develop into chronic joint pain (arthralgia). [rarediseases.org]

face Conductive hearing impairment Narrow mouth Brachydactyly Tibial metaphyseal irregularity Bowed humerus Hypoplasia of proximal radius Short tubular bones of the hand Short sacroiliac notch Flared femoral metaphysis Spondylometaphyseal dysplasia Coxa [mendelian.co]

Joint pain, joint deformity, waddling gait, and short stature are the main clinical signs and symptoms. [malacards.org]

Waddling gait was noted when he began walking at approximately 1 year of age. [jmg.bmj.com]