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Absence or Deformity of Leg- Cataract Syndrome

Leg Absence Deformity Cataract


  • Clinical presentation of ALS Initial presentation of ALS is asymmetric extremity weakness that affects the upper or lower limbs. Foot drop or lateral hand weakness and atrophy are the initial common presentations.[lecturio.com]
  • General Description Waterfowl Abnormal development of downies during incubation - present at hatching.[wildpro.twycrosszoo.org]
  • Dysphagia is present and Rombergism and pseudoathetosis are observed. NCVs and nerve biopsy reveal demyelinating and axonal features. Anti-GD1b or GQ1b (consistently present) antibodies, IgM paraproteins and cold agglutinins are present.[neuroweb.us]
  • Corneal abnormalities such as opacities or sclerocornea may be present.[disorders.eyes.arizona.edu]
  • In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia[dysnet.org]
  • There are many physicians who do not have a desk computer or do not History feel at ease in using one.[books.google.de]
  • If you have RLS and you also are considering cataract surgery, talk to your primary care physician. Relaxis is available by prescription only, but the manufacturer provides patients a no-risk 30-day trial (Source: Yahoo Finance ).[yoursightmatters.com]
  • It can also reveal, if any other congenital spinal and sacral (lower back) deformities coexist Abdominal and spinal ultrasound helps the physician diagnose, if any abnormalities exists in the abdomen and spinal cord Echocardiogram: This may be conducted[dovemed.com]
  • Underwood (1992), and Turner syndrome: A guide for physicians, by R.G. Rosenfeld (1992). The Turner Syndrome Society also has videotapes of their annual conferences available for a fee.[nejm.org]
  • Can Fam Physician. 2003;49:1445-46. Harger JH, Ernest JM, Thurnau GR, et al. Frequency of congenital varicella syndrome in a prospective cohort of 347 pregnant women. Obstet Gynecol. 2002;100:260-65. Dimova PS, Karparov AA.[rarediseases.org]
Multiple Congenital Anomalies
  • In other populations, it is more often associated with a syndrome of multiple congenital anomalies or chromosomal defects.[merckmanuals.com]
  • congenital anomalies-intellectual disability-autism spectrum disorder ADULT syndrome AICA-ribosiduria ALG1-CDG ALG11-CDG ALG2-CDG ALG3-CDG ALG8-CDG ANE syndrome ATR-X-related syndrome Aarskog-Scott syndrome Absence deformity of leg-cataract syndrome[se-atlas.de]
  • congenital anomalies-hypotonia-seizures syndrome type 2 Pachydermoperiostosis X-linked intellectual disability - short stature ‚Äì obesity Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome Mosaic trisomy 22 Early Infantile Epileptic Encephalopathy[checkrare.com]
  • The latter is diagnostic distinctive by eosinophilia, late-onset rhinitis/asthma, mononeuritis multiplex and pANCA. Other conditions in which vasculitic neuropathy can occur RA, SLE, Sjögren disease, scleroderma and GCA.[neuroweb.us]
  • […] disease Ataxia-oculomotor apraxia type 1 49,XXXXX syndrome Bardet-Biedl syndrome Radial hypoplasia, triphalangeal thumbs and hypospadias Limb-girdle muscular dystrophy Intestinal atresia multiple Autosomal recessive Charcot-Marie-Tooth disease with hoarseness[checkrare.com]
Sore Throat
  • The earliest neurological symptom is always bulbar and consists of uni-or bilateral paralysis of the palate, appearing a median of 10 days after the onset of localized throat diphtheria (sore throat).[neuroweb.us]
  • Facial weakness results in drooling and in difficulty in whistling. Weak masticatory muscles tire easily, so that food is chewed with difficulty, while bulbar muscle involvement leads to problems with phonation, articulation, and swallowing.[britannica.com]
Visual Impairment
  • impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000505 6 abnormality of femur morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002823 7 lower limb undergrowth 60 33 hallmark (90%) Very frequent (99-80%) HP:0009816 8 anal atresia[malacards.org]
  • Suggested resource: Return to the Top N Neurological visual impairment (NVI) See cortical visual impairment .[afb.org]
  • impairment Anal atresia Cranial nerve paralysis Spondyloepiphyseal dysplasia Abnormality of the lower limb Abnormality of femur morphology Lower limb undergrowth Progressive cataract Limitation of joint mobility Duplication involving bones of the feet[mendelian.co]
  • Despite early cataract surgery at one month of life, he had a severe visual impairment and fundus examination – as far as possible for small pupils – disclosed hypoplasia and pallor of optic disc.[omicsonline.org]
  • Visual impairment can be seen; ophthalmological exam may show bilateral visual loss, optic atrophy, and centrocecal scotomata. Brainstem or cerebellar signs or even reversible coma may occur.[neuroweb.us]
  • Hemochromatosis type 4 Seres-Santamaria Arimany Muniz syndrome Succinic semialdehyde dehydrogenase deficiency Ehlers-Danlos syndrome, kyphoscoliosis type Cerebellar hypoplasia Adult neuronal ceroid lipofuscinosis Galactokinase deficiency Benign essential blepharospasm[checkrare.com]
  • Symptoms - Leg absence deformity cataract * Progressive scoliosis * Cataract * Leg deformity * Missing leg bones * Absent femur * Lordosis * Vision loss * Foot anomalies * Imperforate anus Causes - Leg absence deformity cataract Not supplied.[checkorphan.org]
  • Shortened axial skeleton, cervical lordosis, subcutaneous oedema, in mallard Anas platyrhynchos duck embryo following application of low-level organophosphate insecticide to eggshell (experimental) ( B12 .5.w10).[wildpro.twycrosszoo.org]
  • Children with nail-patella syndrome should be periodically screened for scoliosis and lordosis. Prognosis Symptoms vary from person to person and for one person through time. The long-term prognosis is extremely variable.[healthofchildren.com]
  • Lumbar lordosis, waddling gait, and Gower’s sign where the patients use their hands for support while standing up are also common.[lecturio.com]


  • Workup If spinal cord disease is in the differential, an MRI of the cord is essential and should be done emergently. An LP is helpful in neuropathies and in spinal cord disease.[pedclerk.bsd.uchicago.edu]


  • Treatment - Leg absence deformity cataract Not supplied. Resources - Leg absence deformity cataract Not supplied.[checkorphan.org]
  • Treatment Treatment Options: None other than rehabilitation.[disorders.eyes.arizona.edu]
  • At present, there is no treatment for this condition.[afb.org]
  • Treatment There is no known cure and treatment is focused on rehabilitation and slowing of muscle weakness.[lecturio.com]


  • Diagnosis - Leg absence deformity cataract * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests Prognosis - Leg absence deformity cataract Not supplied. Treatment - Leg absence deformity cataract Not supplied.[checkorphan.org]
  • (Outcomes/Resolutions) The prognosis with Imperforate Anus, depends on the number and degrees of coexisting, congenital abnormalities (if any) present Children with minor defects have an excellent prognosis Proper diet control and avoidance of constipation[dovemed.com]
  • Management Prenatally and following birth, resuscitation decisions should be discussed with the family and based on the child's prognosis.[patient.info]
  • In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia[dysnet.org]
  • Prognosis Symptoms vary from person to person and for one person through time. The long-term prognosis is extremely variable. One person may exhibit mild symptoms, while another person may become wheelchair-bound or require a kidney transplant.[healthofchildren.com]


  • Rhabdomyolysis may also be seen with infectious etiologies, alcohol, and toxic exposures.[clevelandclinicmeded.com]
  • The etiology is unclear. The deformity is probably due to disruptions during the critical period of embryonic limb development, between 4th and 7th week of gestation.[dysnet.org]
  • With transverse or longitudinal deficiency, depending on the etiology, infants may also have hypoplastic or bifid bones, synostoses, duplications, dislocations, or other bony defects; for example, in proximal femoral focal deficiency, the proximal femur[merckmanuals.com]
  • (Etiology) The exact cause of Imperforate Anus occurrence is still unknown An abnormal development of the fetus (intrauterine fetal development) is the general cause for occurrence of this defect.[dovemed.com]
  • Introduction Neurologists focus on identifying the location of the pathologic lesion as the first step in determining etiology.[pedclerk.bsd.uchicago.edu]


  • Epidemiology The disease is usually sporadic but is less commonly genetically inherited. It is the most common disorder of the motor neuron system.[lecturio.com]
  • Epidemiology Incidence BRA is thought to occur in 1 in 5,000 births whilst unilateral renal agenesis (URA) is more common and occurs in about 1 in 1,000. [ 4 ] An Italian study showed a 5:2 male:female ratio. [ 5 ] Potter's original series similarly showed[patient.info]
  • Table 1 Clinical Features of Common Myopathies Myopathy Epidemiology Distribution of Weakness Other Systemic Manifestations Acquired Myopathies Dermatomyositis Female male Peak incidence: children and ages 40–60 yr Symmetrical proximal muscle weakness[clevelandclinicmeded.com]
  • Trisomy 13 and trisomy 18 in a defined population: epidemiological, genetic and prenatal observations. Prenat Diagn. 2003;23:856-60. Wagner R, Thom E, Simpson JL, et al. First semester screening for trisomies 21 and 18.[rarediseases.org]
  • Limb reduction defects in Emilia Romagna, Italy: epidemiological and genetic study in 173,109 consecutive births. J. Med. Genet., 27, 353-357. Donnai, D., Hughes, H. E., Winter, R. M. (1987). Postaxial acrofacial dysostosis (Miller) syndrome. J.[oandplibrary.org]
Sex distribution
Age distribution


  • Back to Top Pathophysiology Disruption of the structural integrity and metabolic processes of muscle cells can result from genetic abnormalities, toxins, inflammation, infection, and hormonal and electrolyte imbalances.[clevelandclinicmeded.com]


  • Prevention - Leg absence deformity cataract Not supplied. Diagnosis - Leg absence deformity cataract * Vision & Eye Health: Home Testing: o Home Eye Tests o Home Vision Tests Prognosis - Leg absence deformity cataract Not supplied.[checkorphan.org]
  • There are no means for prevention of the condition; it can only be rectified through appropriate surgical treatment.[dovemed.com]
  • Resources About Genetic Hearing Loss from Around the Web "A Parent's Guide to Genetics of Hearing Loss" - Center for Disease Control and Prevention (CDC) Hereditary Hearing Loss Homepage Medscape Reference Genetic Sensorineural Hearing Loss[babyhearing.org]
  • 0.75 mg/kg/day) indications 5 to 7-year-old child with progressive disease goals to maintain ambulatory capacity as long as possible outcomes significant positive effect on disease progression acutely improves strength, slows progressive weakening, prevents[orthobullets.com]
  • Prevention Genetic counseling can be offered to persons who have the disease. Parents with this disease have a 50 percent chance of passing it to each of their children.[healthofchildren.com]

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