Possible Causes for hypoplasia of the femoral neck Coats Plus Syndrome Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune syndrome). Coats plus syndrome is additionally characterized by the presence of bilateral retinal telangiectasia and exudates while LCC shows the progressive[…] [ncbi.nlm.nih.gov] Achondroplasia From Wikidata Jump to navigation Jump to search osteochondrodysplasia that results in dwarfism from abnormal ossification of cartilage in long bones Chondrodystrophia osteosclerosis congenita achondroplastic physique achondroplastic dwarfism edit English achondroplasia osteochondrodysplasia that results in dwarfism[…] [wikidata.org] Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome neck Lumbar kyphosis Thoracolumbar kyphosis Broad phalanx Atlantoaxial instability Arthralgia of the hip Flattened femoral head Small forehead Milia Hyperkeratosis Hypoplasia [mendelian.co] Abnormality of the ulna Epiphyseal stippling Abnormality of immune system physiology Elbow flexion contracture Thickened skin Aortic valve stenosis Macrotia Myelopathy Broad femoral [mendelian.co] X-Linked Spondyloepimetaphyseal Dysplasia Skeletal radiographs showed odontoid hypoplasia, atlantoaxial subluxation, scoliosis, kyphosis, lumbar lordosis and ovoid vertebral bodies, capital femoral epiphyses dysplasia [journals.plos.org] flattening of the acetabular roof, shortening of the femoral neck and base of the ilium, and delayed fusion of the pubic and ischial bones. [journals.plos.org] Cystitis Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. [ncbi.nlm.nih.gov] […] dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia [ncbi.nlm.nih.gov] Cystocele Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. [ncbi.nlm.nih.gov] […] dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia [ncbi.nlm.nih.gov] Coxa Vara Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. [ncbi.nlm.nih.gov] […] dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia [ncbi.nlm.nih.gov] Spondyloepimetaphyseal Dysplasia Type Shohat (B) The capital femoral epiphyses are small and in varus position with marked hypoplasia of the femoral necks. [jmg.bmj.com] neck Short neck of thighbone 0100864 Short ribs 0000773 Vertebral hypoplasia Underdeveloped vertebrae 0008417 Showing of 41 Last updated: 3/1/2019 If you need medical advice [rarediseases.info.nih.gov] Metaphyseal irregularity Irregular wide portion of a long bone 0003025 Narrow greater sacrosciatic notches 0003375 Narrow vertebral interpedicular distance 0008450 Short femoral [rarediseases.info.nih.gov] Acromesomelic Chondrodysplasia with Genital Anomalies […] of the ulna ; Hypoplasia of the uterus ; Primary amenorrhea ; Radial deviation of finger ; Short femoral neck ; Short finger ; Short phalanx of finger ; Short toe ; Talipes [mousephenotype.org] […] deviation of finger 0009466 Short femoral neck Short neck of thighbone 0100864 Short finger Stubby finger Stubby fingers [ more ] 0009381 Short phalanx of finger Short finger [rarediseases.info.nih.gov] Autosomal recessive inheritance ; Brachydactyly ; Broad foot ; Carpal synostosis ; Disproportionate short-limb short stature ; Fibular aplasia ; Hypergonadotropic hypogonadism ; Hypoplasia [mousephenotype.org] Camptodactyly Syndrome Guadalajara Type 1 […] helices Posteriorly rotated ears Short femoral neck Short foot Short metatarsal Short palm Short palpebral fissure Small earlobe Spina bifida occulta Tubular metacarpal bones [dovemed.com] Twelfth rib hypoplasia Upslanted palpebral fissure Wormian bones (Source: Camptodactyly syndrome, Guadalajara type 1 ; Genetic and Rare Diseases Information Center (GARD [dovemed.com] Horizontal sacrum Hypertelorism Hypoplastic 5th lumbar vertebrae Hypoplastic iliac wing Long neck Low-set ears Lumbar hyperlordosis Malar flattening Overfolding of the superior [dovemed.com] Brachyolmia Type Hobaek neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than 30% cases [mendelian.co] X-linked recessive inheritance Stiff neck Lumbar scoliosis Thoracolumbar scoliosis Bowing of the long bones Flexion contracture Childhood-onset short-trunk short stature [mendelian.co] Mucopolysacchariduria Hip osteoarthritis Thoracic kyphosis Disproportionate short stature Hypoplasia of the odontoid process Enlarged joints Short thorax Epiphyseal dysplasia [mendelian.co] Anauxetic Dysplasia (B) The capital femoral epiphyses are small and in varus position with marked hypoplasia of the femoral necks. [jmg.bmj.com] Coxa Valga Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. [ncbi.nlm.nih.gov] […] dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia [ncbi.nlm.nih.gov] Cleft Palate Non-ophthalmologic findings include cleft palate, midfacial hypoplasia, radiographic changes of spondyloepiphyseal dysplasia, narrow pelvis, and broad femoral neck. [ncbi.nlm.nih.gov] Severe Short Stature The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum [ncbi.nlm.nih.gov] Hip Dysplasia Type Beukes neck Gait disturbance Femoral bowing Proportionate short stature Bowing of the legs Disproportionate short stature Metaphyseal chondrodysplasia Carpal bone hypoplasia Short [mendelian.co] […] widening Genu valgum Micromelia Carious teeth Waddling gait Abnormality of the metaphysis Limb undergrowth Reduced bone mineral density Genu varum Metaphyseal dysplasia Short femoral [mendelian.co] Mucopolysaccharidosis Hypoplasia of the pelvis with small femoral heads and coxa valga (a hip deformity in which the angle formed between the head and neck of the femur and its shaft is increased [emedicine.medscape.com] The following are skeletal abnormalities described in dysostosis multiplex: A large skull with a J-shaped sella Anterior hypoplasia of the thoracic and lumbar vertebral bodies [emedicine.medscape.com] 3M Syndrome Type 2 Spondyloepiphyseal Dysplasia Tarda Published: August 1987 Spondyloepiphyseal dysplasia tarda with progressive arthropathy. A report of three cases A propos de trois observations International Orthopaedics volume 11, pages 271–275 (1987)Cite this article 52 Accesses 4 Citations Metrics details Summary Two brothers and a sister with spondyloepiphyseal[…] [link.springer.com] Spondyloepimetaphyseal Dysplasia Type Geneviève — Not enough data available about incidence and published cases. Accelerate your rare disease diagnosis with us Learn more Panel Name, Specifity and genes Tested/covered Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel. By Connective Tissue Gene Tests in United States. COL2A1, FGFR3, COL10A1, IDUA,[…] [mendelian.co] Rhizomelic Dysplasia - Scoliosis - Retinitis Pigmentosa Symptoms via clinical synopsis from OMIM: 58 Head And Neck Neck: short neck Chest Ribs Sternum Clavicles And Scapulae: short clavicles short ribs wide clavicles wide ribs Growth Height: short stature, postnatal Skeletal: normal bone age Skeletal Pelvis: irregular sacro-iliac joints Head And Neck Eyes: photophobia[…] [malacards.org] Saldino-Mainzer Syndrome Brachyolmia Type Toledo Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations A very rare bone disorder with clinical characteristics of short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described.[…] [ncbi.nlm.nih.gov] Congenital Aural Atresia Proximal Femur Variations 168 Asymmetrical Torsion of the Femoral Neck 168 Hypoplasia of the Femoral Head and/or Neck 168 Coxa Vara 168 Coxa Valga 168 F-2.2. [wiley-vch.de] Femur Hypoplasia/Aplasia 168 Proximal Femoral Focal Defi ciency 168 Phocomelia 170 F-2.3. Bifurcated Distal Femur 170 F-3. [wiley-vch.de] Lytic Bone Lesion At 11 years of age, radiographs showed coxa valga with thinned cortices of the femoral necks, hypoplasia of the iliac bones inferiorly with lateral supra-acetabular constrictions [nature.com] Platyspondyly The patients shared the following features: short trunk stature, brachydactyly, severe rectangular platyspondyly, broad and short femoral necks and hypoplasia of the ileum [read.qxmd.com] […] of the odontoid process Spinal cord compression Short femoral neck Radial deviation of finger Abnormality of the metaphysis Hypermetropia Clinodactyly Upper limb undergrowth [mendelian.co] Short femoral neck Spondyloepiphyseal dysplasia Short metacarpal Irregular vertebral endplates Pain Autosomal recessive inheritance Arthralgia Joint laxity Waddling gait [mendelian.co] Mesomelic Dysplasia Type Langer X-ray shows mandibular hypoplasia, normal spine, bilateral short radii, bilateral short and broad ulna, bilateral short femoral neck, bilateral short tibia and bilateral short [ashg.org] Short femoral neck ; Shortening of the tibia Associated Genes SHOX (Withdrawn symbols: GCFX, PHOG, SHOXY, SS ) Mouse Orthologs Rhox10 Source OMIM:249700 (names, synonyms [mousephenotype.org] neck, and absence or hypoplasia of the proximal half of the fibula. [rarediseases.info.nih.gov] Infantile Cortical Hyperostosis Dysplastic changes in the acetabulum correlate with the degree of femoral head deformity or hypoplasia. It is congenital but not heritable; the cause is unknown. [radiologykey.com] […] head, neck, and proximal shaft. [radiologykey.com] Deficiency Proximal focal femoral deficiency is a spectrum of bony deficiencies of the proximal femur, ranging from shortening and varus deformity of the shaft to aplasia of the femoral [radiologykey.com] Mucopolysaccharidosis Type 2 Hypoplasia of the pelvis with small femoral heads and coxa valga (a hip deformity in which the angle formed between the head and neck of the femur and its shaft is increased [emedicine.medscape.com] The following are skeletal abnormalities described in dysostosis multiplex: A large skull with a J-shaped sella Anterior hypoplasia of the thoracic and lumbar vertebral bodies [emedicine.medscape.com]
