Hypoplasia of the Femoral Neck: Causes & Reasons

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Possible Causes for Hypoplasia of the Femoral Neck

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: 5/1/2019 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]

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]

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]

Coats Plus Syndrome

The full text of this article hosted at iucr.org is unavailable due to technical difficulties. Research Article Cerebroretinal microangiopathy with calcifications and cysts: Characterization of the skeletal phenotype † First published: 26 April 2011 Cited by: 7 † How to Cite this Article: Toiviainen‐Salo S, Linnankivi T,[…] [doi.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]

Achondroplasia

Achondroplasia is a common type of dwarfism. Achondroplasia is present at birth and is seen as disproportionately short-limbs, and specific facial features due to abnormal bone growth. Infants with achondroplasia suffer a high rate of apnea and sudden death in the neonatal period. The principle features of[…] [symptoma.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]

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

Home Diseases Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the[…] [rarediseases.info.nih.gov]

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]

Omodysplasia

Additional features of the daughter were short first metacarpal, short fibulae, widening of femoral neck, hypoplasia of the T11 vertebral body and retrolisthesis. [fdna.health]

Spondyloepimetaphyseal Dysplasia Type Bieganski

(B) The capital femoral epiphyses are small and in varus position with marked hypoplasia of the femoral necks. [jmg.bmj.com]

necks cone-shaped capital femoral epiphyses Head And Neck Face: midface hypoplasia low frontal hairline coarse facies Head And Neck Mouth: high-arched palate [malacards.org]

[…] wormian bones Skeletal Hands: brachydactyly large, broad hands metaphyseal cupping (metacarpals and phalanges) Skeletal Pelvis: coxa vara flared iliac wings short, hypoplastic femoral [malacards.org]

Anauxetic Dysplasia

(B) The capital femoral epiphyses are small and in varus position with marked hypoplasia of the femoral necks. [jmg.bmj.com]

Spondyloepimetaphyseal Dysplasia - Abnormal Dentition

(B) The capital femoral epiphyses are small and in varus position with marked hypoplasia of the femoral necks. [jmg.bmj.com]

short femoral necks, late appearing or absent capital femoral epiphyses, broad metaphyses particularly those of the femoral neck, large knee epiphyses and dysplastic epiphyses [raredisorders.imedpub.com]

The Morquio syndrome in its variants, are characterized by severe skeletal changes, including hypoplasia of the odontoid process, short neck, pectus carinatum, thoracic kyphoscoliosis [omicsonline.org]

Multiple Epiphyseal Dysplasia with Miniepiphyses

33 HP:0003065 6 generalized joint laxity 33 HP:0002761 7 broad femoral neck 33 HP:0006429 8 short femoral neck 33 HP:0100864 9 irregular patellae 33 HP:0006369 Symptoms via [malacards.org]

Spondyloepiphyseal dysplasia Arthralgia Hypoplasia of the odontoid process Progressive Proximal muscle weakness Skeletal muscle atrophy Hip osteoarthritis Hypoplastic iliac [mendelian.co]

Frequency HPO Source Accession 1 short stature 33 HP:0004322 2 epiphyseal dysplasia 33 HP:0002656 3 genu varum 33 HP:0002970 4 lumbar hyperlordosis 33 HP:0002938 5 patellar hypoplasia [malacards.org]

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]

Mesomelic Dysplasia Type Langer

neck, and absence or hypoplasia of the proximal half of the fibula. [rarediseases.info.nih.gov]

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]

Metaphyseal Chondrodysplasia, Spahr Type

The pheno-type is variable as the patients reported here hadadditional features such as carpal bone hypoplasia,abnormal ribs, slightly short femoral necks, and iliaccrest [docslide.net]

Ermine Phenotype

Broad femoral neck Need help with a diagnosis? [mendelian.co]

Abnormality of skin pigmentation Nystagmus-induced head nodding Neoplasm of the skin Freckling Iris hypopigmentation Pendular nystagmus Abnormal pupil morphology Macular hypoplasia [mendelian.co]

Pelviscapular Dysplasia

Imaging Aplasia of the scapula alae, hypoplasia of iliac bone, humeroradial synosthosis, dislocation of femoral heads, moderate brachydactyly. [medical-dictionary.thefreedictionary.com]

Imaging Aplasia of the scapula alae, hypoplasia of iliac bone, humeroradial synosthosis, dislocation of femoral heads, moderate brachydactyly Molecular pathology Defects of [newmedicalterms.com]

hypertelorism, narrow palpebral fissures, deep-set globes, strabismus, low-set posteriorly rotated and malformed external ears, dysplasia of conchae, small chin, short neck [medical-dictionary.thefreedictionary.com]

Spondyloepiphyseal Dysplasia Type MacDermot

[…] head 33 HP:0008812 14 spondyloepiphyseal dysplasia 33 HP:0002655 15 hypoplasia of the capital femoral epiphysis 33 HP:0003090 Symptoms via clinical synopsis from OMIM: 58 [malacards.org]

Head And Neck Neck: short neck Skeletal Feet: pes planus prominent heel Skeletal Spine: platyspondyly lumbar lordosis, mild Head And Neck Ears: sensorineural deafness Skeletal [malacards.org]

[…] platyspondyly 33 HP:0000926 9 myopia 33 HP:0000545 10 waddling gait 33 HP:0002515 11 retinal detachment 33 HP:0000541 12 lumbar hyperlordosis 33 HP:0002938 13 flattened femoral [malacards.org]

Femoral Agenesis - Femoral Hypoplasia

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]

(a, b) Ultrasound images showing symmetrical femoral hypoplasia; the femur is completely absent on the left side (a; ??) [onlinelibrary.wiley.com]

Femur Hypoplasia/Aplasia 168 Proximal Femoral Focal Defi ciency 168 Phocomelia 170 F-2.3. Bifurcated Distal Femur 170 F-3. [wiley-vch.de]

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]

Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

Ossification delay leads to narrow, curved and tapered femoral neck. [cags.org.ae]

saddle nose, short stature due to short limbs, and radiographic features including the spannerlike appearance of the proximal femora, short curved femoral necks, and loss [omim.org]

[…] hand-epiphyseal ossification delay, gracile metacarpals, mild scoliosis, and dysmorphic features such as a short and upturned nose with a depressed nasal bridge and midface hypoplasia [cags.org.ae]

Kniest Dysplasia

The ilia are broad with hypoplasia of the basilar portions. The femoral necks are short and wide; the femoral heads ossify late but eventually are large and flat. [advancedradteaching.com]

The representative radiographic findings consist of hypoplasia of the facial bones, platyspondyly with anterior wedging of the vertebral bodies, shortened sacro-iliac notches [raredisorders.imedpub.com]