face pelvic scapula dysplasia Short stature heart defect craniofacial anomalies Short stature hyperkaliemia acidosis Short stature locking fingers Short stature mental retardation eye anomalies Short stature mental retardation eye defects Short stature [sosu.us]

Diagnosis - Parastremmatic dwarfism Routine studies should include a CBC, sedimentation rate, urinalysis, chemistry panel, thyroid profile, VDRL test, quantitative stool fat, a sweat test, and x-rays of the skull and long bones. [checkorphan.org]

The advances referred to in this chapter, particularly molecular genetics and database access, have transformed the diagnosis of skeletal dysplasias. [books.google.com]

Abstract Recent discoveries have established the existence of a family of skeletal dysplasias caused by dominant mutations in TRPV4. [doi.org]

Indications for Testing Molecular testing for skeletal dysplasias is useful to Confirm a clinical diagnosis based on prenatal or postpartum findings suggestive of a skeletal dysplasia Help exclude a skeletal dysplasia when there is suspicion of nonaccidental [arupconsult.com]

dysplasia Variation info Gene TRPV4 CLNDBN Spondylometaphyseal dysplasia, Kozlowski type Parastremmatic dwarfism Neuromuscular Diseases Skeletal dysplasia Reversed 1 HGVS NC_000012.11:g.110230500C T CLNSRC OMIM Allelic Variant UniProtKB (protein) CLNACC [snpedia.com]

dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.144 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sources Expert Review Green Phenotypes Brachyolmia type 3 113500 Digital arthropathy-brachydactyly, familial [panelapp.genomicsengland.co.uk]

Clinical description Radiographs show bowing of long bones, platyspondyly and a very rough, irregular metaphyseal and epiphyseal bone texture. Etiology The syndrome is caused by a heterozygous mutation in the TRPV4 gene (12q24.1). [orpha.net]

[…] is a very rare chondrodysplasia characterized by severe dwarfism, kyphoscoliosis, stiffness of large joints and distortion of lower limbs.EpidemiologyOnly 5 cases have been described to date.Clinical descriptionRadiographs show bowing of long bones, platyspondyly [malacards.org]

Imaging Decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification, with calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses. [medical-dictionary.thefreedictionary.com]

Radiographically, the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification with areas of calcific stippling and streaking in radiolucent epiphyses [uniprot.org]

Imaging Decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification, with calcific stippling and streaking in radiolucent epiphyses, metaphyses and apophyses. [medical-dictionary.thefreedictionary.com]

Radiographically, the disease is characterized by a combination of decreased bone density, bowing of the long bones, platyspondyly and striking irregularities of endochondral ossification with areas of calcific stippling and streaking in radiolucent epiphyses [uniprot.org]

[…] diaphysis / diaphyses / long bones - Epiphyseal anomaly - Genu valgum - Kyphosis - Lack / delayed ossification of spine / vertebrae - Metaphyseal anomaly - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Pelvis anomaly / Narrow [csbg.cnb.csic.es]

MeSH reference: C537172 Very frequent - Abnormal gait - Autosomal dominant inheritance - Bowed diaphysis / diaphyses / long bones - Epiphyseal anomaly - Genu valgum - Kyphosis - Lack / delayed ossification of spine / vertebrae - Metaphyseal anomaly - Osteoporosis [csbg.cnb.csic.es]

Scoliosis and generalized osteoporosis with compression fractures can be seen (Smith 1967). In Ehlers-Danlos syndrome, platyspondyly affecting only the lumbar spine is characteristic (Kozlowski et al. 1991) (Fig. 3.9 a,b). [rrnursingschool.biz]

Osteopetrosis late-onset form type 1, Osteoporosis-pseudoglioma syndrome, Osteosclerosis, Van Buchem disease MYH7 Dilated cardiomyopathy (DCM), Hypertrophic cardiomyopathy (HCM), Myopathy, distal, Myopathy, myosin storage NEB Nemaline myopathy OCRL [genda.com.ar]

Patellar tendinitis, Golfer's elbow, Tennis elbow, Metatarsalgia, Bone spur, Tendinitis ) other, NEC: Muscle weakness - Rheumatism - Myalgia - Neuralgia - Neuritis - Panniculitis - Fibromyalgia Osteopathies disorders of bone density and structure: Osteoporosis [wikidoc.org]

[…] follicularis dwarfism and cerebral atrophy Microcephalic primordial dwarfism Toriello type Ichthyosis, mental retardation, dwarfism and renal impairment Dwarfism familial with muscle spasms Amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis [inspire.com]

/ delayed ossification of spine / vertebrae - Metaphyseal anomaly - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Restricted joint mobility / joint [csbg.cnb.csic.es]

Arthropathy manifests with painful swelling and joint stiffness involving the hips, the cervical spine, and the finger joints in the hands. [rrnursingschool.biz]

Gradually he developed joints stiffness and pain all over body with difficulty in walking. [omicsonline.org]

disorders TBX3 Ulnar-Mammary syndrome TBX19 Adrenocorticotropic hormone deficiency TCF12 Craniosynostosis TCIRG1 Osteopetrosis, severe neonatal or infantile forms (OPTB1) TCOF1 Treacher Collins syndrome TCTN3 Joubert syndrome, Orofaciodigital syndrome [genda.com.ar]

bossing / prominent forehead - Genu varum - High forehead - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Pectus carinatum [csbg.cnb.csic.es]

forehead - Lower limb asymmetry / hemiatrophy / hemihypertrophy - Pectus carinatum [csbg.cnb.csic.es]

[…] dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type of scoliosis that affects the upper back), a distortion and twisting of the limbs, contractures of the large joints, malformations of the vertebrae and pelvis, and incontinence [en.wikipedia.org]

Fecal incontinence 316. Fetal alcohol spectrum disorder 317. FG syndrome 318. Fibrinogenolysis 319. Fibrodysplasia ossificans progressiva 320. Fibromyalgia 321. Fibular hemimelia 322. Finger agnosia 323. Fissured tongue 324. [theirsmineandours.wordpress.com]

Symptoms - Parastremmatic dwarfism * Delayed walking * Abnormal gait * Leg deformities * Large joint contractures * Bowed legs * Genu valga * Twisted thighs * Kyphoscoliosis * Short neck * Decreased bone density * Cranial vault deformities * Long bone [checkorphan.org]

[…] chromosomal abnormalities - Epidemiological data: Class of prevalence: Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant External references: 1 OMIM reference - 1 MeSH reference: C537172 Very frequent - Abnormal [csbg.cnb.csic.es]