stature, disproportionate short-trunked (identifiable at birth) [malacards.org]

Homepage Rare diseases Search Search for a rare disease Spondyloepimetaphyseal dysplasia, Irapa type Disease definition Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short [orpha.net]

stature ; Enlargement of the costochondral junction ; Genu valgum ; Hypoplastic sacrum ; Limited elbow extension ; Lumbar hyperlordosis ; Metaphyseal dysplasia ; Osteoarthritis ; Pectus carinatum ; Platyspondyly ; Short metacarpal ; Short metatarsal [mousephenotype.org]

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

The SLAC wrist: scapholunate advanced collapse pattern of degenerative Arthritis. J Hand Surg [Am] 1984: 9-A:358-65. ‏ الصفحة 308 - Arnett FC, Edworthy SM, Bloch DA. McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS. [books.google.com]

The SLAC wrist: scapholunate advanced collapse pattern of degenerative Arthritis. J Hand Surg [Am] 1984: 9-A:358-65. ‎ Página 308 - Arnett FC, Edworthy SM, Bloch DA. McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS. [books.google.es]

Symptoms via clinical synopsis from OMIM: 57 Skeletal: osteoarthritis spondyloepimetaphyseal dysplasia Chest Ribs Sternum Clavicles And Scapulae: pectus carinatum widened costochondral junction Skeletal Pelvis: coxa vara protruding iliac wings wide femoral [malacards.org]

vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. [orpha.net]

Name Spondyloepimetaphyseal Dysplasia, Irapa Type Synonyms - Classification bone, developmental, genetic Phenotypes Arthralgia ; Autosomal recessive inheritance ; Broad femoral neck ; Broad foot ; Broad palm ; Capitate-hamate fusion ; Coxa vara ; Disproportionate [mousephenotype.org]

[…] junction Skeletal Pelvis: coxa vara protruding iliac wings wide femoral neck Skeletal Feet: short metatarsals flat, broad feet long second toes Skeletal Limbs: osteoarthritis genu valgum metaphyseal dysplasia arthralgias short arms more Skeletal Spine: platyspondyly [malacards.org]

[…] fusion ; Coxa vara ; Disproportionate short-trunk short stature ; Enlargement of the costochondral junction ; Genu valgum ; Hypoplastic sacrum ; Limited elbow extension ; Lumbar hyperlordosis ; Metaphyseal dysplasia ; Osteoarthritis ; Pectus carinatum ; Platyspondyly [mousephenotype.org]

Note the generalized platyspondyly, small epiphyses, enlarged and flaredmetaphyses, and delayed bone age.Fig. 2. [dokumen.tips]

Changes include metaphyseal irregularity, widening, and sclerosis, and platyspondyly with spinal malalignment (Kozlowski et al. 1980). [rrnursingschool.biz]

The aim is to provide an essential, practical guideline to the recognition of the key radiographic signs for diagnosing malformation syndromes and skeletal dysplasias. [library.jkuat.ac.ke]

Web-based (medical) Medical/Scientific description of SEMD, Strudwick type, with emphasis on the genetics of the condition Spondyloepimetaphyseal dysplasias Source/Author: Christine Hall; Orphanet Web-based (medical) Excellent overview of the group of skeletal [lpamrs.memberclicks.net]

One patient was initially suspected of having Torrance type platyspondylic lethal skeletal dysplasia (PLSDT; 151210). [olivialugani.com]

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

For more information, physicians can contact: International Skeletal Dysplasia Registry UCLA 615 Charles E. [rarediseases.org]

Ribs Sternum Clavicles And Scapulae: pectus carinatum widened costochondral junction Skeletal Pelvis: coxa vara protruding iliac wings wide femoral neck Skeletal Feet: short metatarsals flat, broad feet long second toes Skeletal Limbs: osteoarthritis genu [malacards.org]

valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment. [orpha.net]

[…] developmental, genetic Phenotypes Arthralgia ; Autosomal recessive inheritance ; Broad femoral neck ; Broad foot ; Broad palm ; Capitate-hamate fusion ; Coxa vara ; Disproportionate short-trunk short stature ; Enlargement of the costochondral junction ; Genu [mousephenotype.org]

[…] valgum metaphyseal dysplasia arthralgias short arms more Skeletal Spine: platyspondyly increased lumbar lordosis small sacrum Skeletal Hands: capitate-hamate fusion short, broad hands short metacarpals Growth Height: short stature, disproportionate short-trunked [malacards.org]

Homepage Rare diseases Search Search for a rare disease Spondyloepimetaphyseal dysplasia, Irapa type Disease definition Spondyloepimetaphyseal dysplasia, Irapa type is characterized by disproportionate short-trunked short stature, pectus carinatum, short [orpha.net]

Spondyloepimetaphyseal Dysplasia, Irapa Type Synonyms - Classification bone, developmental, genetic Phenotypes Arthralgia ; Autosomal recessive inheritance ; Broad femoral neck ; Broad foot ; Broad palm ; Capitate-hamate fusion ; Coxa vara ; Disproportionate short-trunk [mousephenotype.org]

gait Associated Genes - Mouse Orthologs - Source OMIM:271650 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, gene orthology) HPO (phenotypes) Mouse Models phenotype-based associations Disease [mousephenotype.org]

gait Prominent nasal bridge Micromelia Spondylometaphyseal dysplasia Hip dysplasia High palate Clinodactyly Sandal gap Abnormality of the eye Clinodactyly of the 5th finger Thoracic kyphoscoliosis Motor delay Cataract Delayed speech and language development [mendelian.co]

[…] hypoplasia Flat capital femoral epiphysis Iliac horns Recurrent fractures Abnormality of ocular abduction Talocalcaneal synostosis Esotropia Ptosis Infantile onset Ventriculomegaly Abnormal pyramidal sign Slow progression Neurological speech impairment Polyneuropathy [mendelian.co]