Presentation
Reduction defects of upper arm and forearm with hand present Fig. 4.31. [cdc.gov]
Weiner, Bernard Gonik, Caroline Crowther, and Stephen Robson present an evidence-based approach to the available management options, equipping you with the most appropriate strategy for each patient. [books.google.de]
Intracystic nodules, that are waxy nodules, if present, show characteristically intensity on MRI5. [scielo.br]
TYPE Reference Entry ABSTRACT A definition of the medical term "adactylia," or "adactylism" or "adactyl," which refers to congenital absence of digits of the hand or foot, is presented. [connection.ebscohost.com]
Chinese Medical Journal 129(16): 2009-2010, 2016 Rathke cleft cyst presenting with hyponatremia: an unusual presentation. [eurekamag.com]
Entire Body System
- Trisomy 21
18, trisomy 21, vascular disruption sequence [sonoworld.com]
Down’s syndrome – The most common chromosomal defect with most cases resulting from an extra chromosome (trisomy 21). [datacenter.kidscount.org]
21 syndrome, 88 trisomy 8 syndrome, 458, 463 Turner phenotype with normal karyotype, 26 Turner syndrome, 22, 285 Turner-Kiser syndrome, 471 U Ullrich-Feichtiger syndrome, 391 ulnar deficiency, 149 classification, 150 dimelia (mirror hand) 197 polydactyly [docplayer.net]
- Short Stature
[…] middle phalanx of finger Broad neck Diastasis recti Communicating hydrocephalus Sandal gap Acute lymphoblastic leukemia Anterior hypopituitarism Hypoplastic labia majora Stenosis of the external auditory canal Disproportionate short-limb short stature [mendelian.co]
Examination at five years revealed short stature, height being 109 cm (-3SD), and a normal skull circumference of 50 cm. The boy had normal comprehension and receptive language development, but difficulties in expressive language. [ojrd.biomedcentral.com]
Short stature Congenital lymphedema 3. Low posterior hairline 4. Webbed neck 5. Ovarian dysgenesis/Infertility 6. Cardiac & kidney anomalies 7. [quizlet.com]
He had short stature (144.5 cm) and intellectual disability. He experienced frequent seizures from the age of three, and epileptiform activity was recorded by EEG. [liebertpub.com]
- Arachnodactyly
Keywords : absent nasal bone, acheira, acheiropodia, adactyly, amniotic band syndrome, apodia, arachnodactyly, arthrogryposis multiplex congenita, brachydactyly, camptodactyly, caudal regression syndrome, Charge syndrome, cleched hand, clinidactyly, club [sonoworld.com]
147 angioosteohypertrophy syndrome, 31 anonychia, 470 anophthalmia, 391 Antley-Bixler syndrome, 110 Apert foot, 375 Apert syndrome, 114, 205, 209, 314, 351, 371 metacarpal synostosis, 293 Apert thumb, 374 aphasia, 347 aplasia, 124 cutis congenita, 177 arachnodactyly [docplayer.net]
- Surgical Procedure
If necessary, a child may undergo a surgical procedure called guided growth where plates and screws are secured to the growth plate; or a surgical procedure called an osteotomy, which is a complex procedure that involves cutting the bone, adding or removing [shrinershospitalsforchildren.org]
Successful surgical procedures surface both digits with durable skin, create an appropriate web space floor, and accommodate growth of the digit without secondary contracture ( Fig 34A-1. ,A and B). [oandplibrary.org]
In individuals with major anomalies, physical therapy or surgical procedures are usually not indicated as function is often remarkably good (R43). [nature.com]
- Short Finger
[…] cleft hard palate Occipital encephalocele Mesomelia Cephalocele Abnormality of the ear Hamartoma Preaxial hand polydactyly Genu varum Abnormal oral frenulum morphology Short finger Laryngomalacia Median cleft lip Abnormality of the tongue Porencephalic [mendelian.co]
Gastrointestinal
- Diarrhea
[…] hypopituitarism Hypoplastic labia majora Stenosis of the external auditory canal Disproportionate short-limb short stature Hypoplasia of the uterus Retinal coloboma Underdeveloped supraorbital ridges Hypoplastic toenails Hypoparathyroidism Anal stenosis Chronic diarrhea [mendelian.co]
Musculoskeletal
- Brachydactyly
[…] of bilateral toes Brachydactyly of left toes Brachydactyly of right toes Brachydactyly of toes Complete aphalangia of lower limb Congenital absence of fifth toe Congenital absence of fourth and fifth toes Congenital absence of great toe Congenital absence [icd9data.com]
Other more variable features include thimble-shaped middle phalanges, brachydactyly, carpal/tarsal fusion, and deafness. [mendelian.co]
Keywords : absent nasal bone, acheira, acheiropodia, adactyly, amniotic band syndrome, apodia, arachnodactyly, arthrogryposis multiplex congenita, brachydactyly, camptodactyly, caudal regression syndrome, Charge syndrome, cleched hand, clinidactyly, club [sonoworld.com]
Differential Diagnosis Brachydactyly Poland syndrome Transverse deficiency of the digits Constriction band syndrome Brachydactyly refers to a short hypoplastic digit that has the normal complement of bones. [78stepshealth.us]
Adams oliver syndrome is a combination of limb malformations which include syndactyly, brachydactyly, polydactyly, oligodactyly and hypoplastic finger/toenails [ 5 ]. [research-journal.net]
- Foot Deformity
Wood found that 9 of 20 patients with cleft hand deformity also had cleft foot deformity (8). [musculoskeletalkey.com]
ID#: 2631 Description: Caption: This image from 1968 depicted the feet of a child, which displayed a cleft, or split foot deformity, otherwise known as ectrodactyly. [phil.cdc.gov]
Links Publisher Full Text Authors +Show Affiliations, Department of Plastic and Reconstructive Surgery, Showa University School of Medicine, Tokyo, Japan., ,,, Source MeSH Female Foot Foot Deformities, Congenital Humans Infant Male Postoperative Period [unboundmedicine.com]
Club foot – Deformities of the foot, which is twisted out of shape or position. Diaphragmatic hernia – Herniation of the abdominal contents through the diaphragm into the thoracic cavity usually resulting in respiratory distress. [datacenter.kidscount.org]
- Hand Deformity
Wood found that 9 of 20 patients with cleft hand deformity also had cleft foot deformity (8). [musculoskeletalkey.com]
Congenital hand deformity is a global term that implies failure of the limb to develop normally during pregnancy. [shrinershospitalsforchildren.org]
SPLIT-HAND/FOOT MALFORMATION 1; SHFM1 Is also known as split-hand/foot malformation 1 with or without deafness, split-hand/foot deformity 1;shfd1;shsf1, split-hand deformity, ectrodactyly;ecd;ectrodactyly; lobster-claw deformity; shfm; split hand foot [mendelian.co]
Central defect Missing one or more of the three central digits (cleft hand). Clinodactyly Angular deformity of a finger Dicheiria Double hand. Dimelia Double limb. Ectrodactyly Partial or complete amputation of fingers. [docplayer.net]
- Torticollis
Additional features were shortness of the neck associated with torticollis. [ojrd.biomedcentral.com]
126 thromboembolism, 228 thumb brachymetacarpia, 279 deficiency, 305 hypoplasia, 141, 305, 313, 318, 421 polydactyly, 325, 337 radial clinodactyly, 354 triphalangeal, 325, 339 thumb-in-palm deformity, 346 tibial hypoplasia, 425 toe polydactyly, 413 torticollis [docplayer.net]
Torticollis is a condition where an infant's neck does not turn equally to both sides. The cause of congenital muscular torticollis is unclear, although a specific muscle (sternocledomastoid) is tight. [shrinershospitalsforchildren.org]
- Joint Deformity
Any bony or joint deformity of the first or fifth ray should be corrected at the time of surgery. Wood, Peppers, and Shook described a simplified cleft closure using rectangular flaps. Their technique was easier and produced better cosmetic results. [research-journal.net]
Face, Head & Neck
- Pierre Robin Syndrome
[…] hand, clubfoot, ectrodactyly, FADS, fetal akinesia deformation sequence, fetal feet, fetal hands, fetal ultrasound, lobster claw deformity, macrodactyly, malaligned toes, obstetrical ultrasound, oligodactyly, Pierre Robin syndrome, polydactyly, polysyndactyly [sonoworld.com]
170, 317 classification, 166 PHOST syndrome, 50 photophobia, 255 Pierre Robin syndrome, 362 plagiocephaly, 99 Poland sequence, 99 Poland syndrome, 173, 297, 397, 443 pollex abductus anomaly, 307, 422 pollicization, 309 polydactyly, 88, 131, 162, 203 [docplayer.net]
Neurologic
- Akinesia
[…] acheiropodia, adactyly, amniotic band syndrome, apodia, arachnodactyly, arthrogryposis multiplex congenita, brachydactyly, camptodactyly, caudal regression syndrome, Charge syndrome, cleched hand, clinidactyly, club hand, clubfoot, ectrodactyly, FADS, fetal akinesia [sonoworld.com]
Treatment
In many cases, no treatment is needed; however, depending on the underlying cause, treatment with surgery or physical therapy may be required. [shrinershospitalsforchildren.org]
Prepare for clinical challenges and save time in addressing them thanks to expert advice on treatment options from international contributors. [books.google.de]
The treatment of Aglossia-adactylia syndrome requires the coordinated efforts of a team of specialists. [medigoo.com]
The most common treatment for shortening of the metatarsal bone is surgery to lengthen the bone. Some other foot deformities are less severe. [streetdirectory.com]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Prognosis
Better to treat as a baby because the joints and bones are more flexible. 10) What is the prognosis of clubfoot, both if treated or untreated? With treatment children will walk fairly normal and lead normal lives. [coursehero.com]
The prognosis is poor and this condition leads to death in utero or shortly after birth. [ncbi.nlm.nih.gov]
In case of syndromic presentation, prognosis depends on the nature of the associated anomalies. (Source: Orphanet) Link: Fibular hemimelia [dysnet.org]
Natural History, Complications, and Prognosis Webbed toes is a purely cosmetic condition. This condition does not impair the ability to perform any activity including walking, running, or swimming. [wikidoc.org]
The prognosis depends on the severity of the abnormalities. Intrauterine fetal treatment may be considered fetoscopic intervention may be useful to release the bands [ 5 ]. [omicsonline.org]
Etiology
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [orpha.net]
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]
The etiology is unknown but in spite of the extreme variability of the clinical manifestation, a dominant mutant gene cannot be ruled out. The exact cause of Aglossia-adactylia syndrome is not known. [medigoo.com]
Concept ID: C2675492 • Disease or Syndrome Santos syndrome MedGen UID: 414444 • Concept ID: C2751698 • Disease or Syndrome Radiohumeral fusions with other skeletal and craniofacial anomalies MedGen UID: 482359 • Concept ID: C3280729 • Disease or Syndrome Etiology [ncbi.nlm.nih.gov]
The main theory regarding the etiology of the syndrome is the premature rupture of the amniotic sac. Although the band does not modify, the growth of the child leads to worsening of distal fluid accumulation [ 3 ]. [omicsonline.org]
Epidemiology
The book also provides updated epidemiologic and statistical data throughout and includes a section on biostatistics in physical medicine and rehabilitation. [books.google.com]
Synonym(s): - Toes absent, bilateral Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]
SOURCE: Indiana State Department of Health, Epidemiology Resource Center, Data Analysis Team [in.gov]
In fact, the study found that smoking just half a pack per day increases the risk of having a child born with a toe or finger defect by 29 percent. [1] [2] Epidemiology and Demographics Webbed fingers or toes occur one in every 2,000 to 2,500 live births [wikidoc.org]
Pathophysiology
CRC Press, 16 Jun 1993 - Medical - 304 pages In Utero Diagnosis of Skeletal Disorders is a unique compendium of current information and 350 original ultrasound images covering the physiology and pathophysiology of osteogenesis. [books.google.com]
Pathophysiology The exact cause of the condition is unknown. In other cases, no other related persons have this condition. Syndactyly occurs when apoptosis or programmed cell death during gestation is absent or incomplete. [wikidoc.org]
Women who have had gestational diabetes have a 40 to 60 percent chance of developing diabetes in the next 5 to 10 years. [19] The underlying pathophysiology of gestational diabetes is a function of decreased maternal insulin sensitivity or increased insulin [drsircus.com]
Prevention
Get Started In 1987, Dutch researchers found magnesium prevents hemorrhaging in the brains of infants whose mothers have this form of hypertension. [drsircus.com]
Assessment, prevention, and treatment are all covered. The chapters focus on biochemical and clinical abnormalities, techniques for evaluating nutrition including behavior, nutritional management, and follow-up procedures. [books.google.es]
2006, vol. 54 (pg. 1301 - 5 ) Centers for Disease Control and Prevention/National Center for Health Statistics, 2000 Linked birth/infant death data set:1998 birth cohort data. [academic.oup.com]
Orthotics (braces) are used to: Help muscle growth keep up with bone growth Prevent foot and knee damage Help support weak muscles Protect the muscles after surgery Medications may be prescribed to control or prevent seizures and/or to reduce spasticity [shrinershospitalsforchildren.org]