Hypoplasia of the Femoral Neck: Causes & Reasons

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]

Saldino-Mainzer Syndrome

Short femoral neck MedGen UID: 373033 •Concept ID: C1836184 • Finding An abnormally short femoral neck (which is the process of bone, connecting the femoral head with the [ncbi.nlm.nih.gov]

[…] metopic ridge Short femoral neck Short metatarsal Short ribs Short thorax Thoracic hypoplasia Trigonocephaly Umbilical hernia Wide anterior fontanel Abnormality of the nervous [ncbi.nlm.nih.gov]

Thoracic hypoplasia MedGen UID: 373339 •Concept ID: C1837482 • Congenital Abnormality Hypoplasia of the capital femoral epiphysis MedGen UID: 374176 •Concept ID: C1839254 [ncbi.nlm.nih.gov]

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]

Coats Plus Syndrome

Panel testing recommended at Breda Genetics for this condition: Cerebroretinal microangiopathy with calcifications and cysts – Coats plus syndrome – and its differential diagnosis (CTC1, POT1, SNORD118, SLC20A2, PDGFRB, PDGFB) If negative: Dyskeratosis congenita and its differential diagnosis (ADC, CTC1, DKC1, NHP2,[…] [bredagenetics.com]

Achondroplasia

For growth monitoring of patients with achondroplasia By Lo Neumeyer, Andrea Merker, Lars Hagenäs Clinical surveillance of infants and children with achondroplasia necessitates syndrome-specific charts due to extreme short stature with deviating body proportions. Height, arm span and leg length develop far below[…] [achondroplasia-growthcharts.com]

3M Syndrome Type 2

Case Reports 3M syndrome: A Tunisian seven-cases series Khaoula Khachnaoui-Zaafrane et al. Eur J Med Genet. 2022 Mar. Abstract 3M syndrome (3MS) is a rare autosomal recessive primordial growth disorder characterized by a severe pre- and post-natal growth deficiency, minor dysmorphisms and skeletal[…] [pubmed.ncbi.nlm.nih.gov]

Spondyloepiphyseal Dysplasia Tarda

Published: March 1984 Japanese Journal of Human Genetics volume 29, pages 39–43 (1984)Cite this article 154 Accesses 3 Citations Metrics details Summary A case of osteosarcoma arising in a 16-year-old boy with spondyloepiphyseal dysplasia tarda is described. The etiological interrelationship between these two[…] [nature.com]

Spondyloepimetaphyseal Dysplasia Type Geneviève

Thank you for visiting the new GARD website. Many GARD web pages are still in development. Learn more. We would like to hear your feedback as we continue to refine this new version of the GARD website. Thank you for visiting the new GARD website. Many GARD web pages are still in development. Learn more. We would[…] [rarediseases.info.nih.gov]

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]

Brachyolmia Type Toledo

Spondyloepiphyseal Dysplasia with Congenital Joint Dislocations

Summary Clinical characteristics. CHST3-related skeletal dysplasia is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), clubfeet, and limitation of range of motion that can involve all large joints. Kyphosis and occasionally scoliosis with slight shortening of the trunk[…] [ncbi.nlm.nih.gov]

Phocomelia Type Schinzel

OMIM:249700 Langer Mesomelic Dysplasia Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula, Micromelia, Short femoral neck, Me... [mousephenotype.org]

ORPHA:2639 Leri-Weill Dyschondrosteosis Short toe, Tibial bowing, Abnormal femoral neck morphology, Radial bowing, Coxa valga, Hypoplasia... [mousephenotype.org]

OMIM:200700 Langer Mesomelic Dysplasia Radial bowing, Hypoplasia of the radius, Broad ulna, Short tibia, Rudimentary fibula, Short femor... [mousephenotype.org]

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]

Genu valgum St Helena Familial

OMIM:191440 Rhizomelic Dysplasia, Ain-Naz Type Short femoral neck, Hypoplasia of the femoral head, Wide distal femoral metaphysis, Rhizomelia, S... [mousephenotype.org]

ORPHA:2019 Camptomelic Syndrome, Long-Limb Type Micromelia, Bowing of the long bones OMIM:211990 Ulnar Hypoplasia Hypoplasia of the ulna, Radial dysplasia, Hypoplasia of the [mousephenotype.org]

[…] radius, Distal ulnar hypoplasia, Meso... [mousephenotype.org]

Ischio-Coxo-Podo-Patellar Syndrome

elongated femoral necks, and hypoplasia of the lesser trochanter (fig 3C). [jmg.bmj.com]

Various other skeletal anomalies have been reported, such as elongated femoral necks, flattened and widened proximal femoral epiphyses, hypoplasia of the lesser trochanter [jmg.bmj.com]

These features have also been mentioned by Vanek2 and can also be seen on radiographs from other reports.3-5 Hypoplasia of the lesser trochanter, elongated femoral necks, [jmg.bmj.com]

Mesomelic Dysplasia Type Langer

neck, and absence or hypoplasia of the proximal half of the fibula. [orpha.net]

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]

[…] shortened long bones of the limbs (involving both the middle and proximal segments), deformity of the humeral head, angulation of the radial shaft, carpal distortion, a short femoral [orpha.net]

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]

Anauxetic Dysplasia

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

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]

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]

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]

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]

Pelviscapular Dysplasia

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

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

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