A family is presented in which five individuals in four generations have shown variable expression of distal symphalangism in hands and feet. The mode of inheritance is autosomal dominant.[ncbi.nlm.nih.gov]
ORPHA:3248 Synonym(s): - Prevalence: Inheritance: Autosomal dominant Age of onset: Infancy, Neonatal ICD-10: Q70.9 OMIM: 185700 UMLS: C1861401 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented for information purposes only[orpha.net]
Box 65 Leicester LE2 7LX UK Abstract A family is presented in which five individuals in four generations have shown variable expression of distal symphalangism in hands and feet. The mode of inheritance is autosomal dominant.[onlinelibrary.wiley.com]
Baek paper Patients with symphalangism present with a stiff finger (or more than one, finger or toe). On examination, the stiff joint will not have the normal skin creases on the top or bottom.[congenitalhand.wustl.edu]
With this goal in mind, the editors have taken great care to ensure that the presentation of complex clinical information is at once scientifically accurate, patient oriented, and accessible to readers without a medical background.[books.google.com]
As with previous cases of fusion of the distal interphalangeal joint, there was little functional disability resulting from this anomaly and we do not recommend operative procedures to restore motion.[ncbi.nlm.nih.gov]
" (Technology Related Assistance for Individuals with Disabilities Act, 1988, Sta. [books.google.com]
NANCE-HORAN SYNDROME; NHS Is also known as cataract-dental syndrome, cataract, x-linked, with hutchinsonian teeth, mesiodens-cataract syndrome; Related symptoms: Intellectual disability Global developmental delay Nystagmus Strabismus Cataract SOURCES:[mendelian.co]
Puberty-Obesity Syndrome X-Linked Intellectual Disability, Stevenson Type Causes List for Tallness List of possible causes of Tallness or similar symptoms may include: 5 ACTH resistance (Tall stature) Acquired Disorders (Tallness) Acrocallosal syndrome[familydiagnosis.com]
transversepalmarcreases, broad feet, distal symphalangism of hands, fused outermost bones of hand, short 1st metacarpal, singletransversepalmarcrease, tall stature (increased body height), thoracolumbar scoliosis & type a1 brachydactyly.[xpertdox.com]
Diseases related with Arthritis and Singletransversepalmarcrease In the following list you will find some of the most common rare diseases related to Arthritis and Singletransversepalmarcrease that can help you solving undiagnosed cases.[mendelian.co]
, abnormality of the proximal phalanges of the hand & abnormal innermost big toe bone.[xpertdox.com]
BASAN SYNDROME Is also known as adermatoglyphia with congenital facial milia and acral blisters, digital contractures, and nailabnormalities, ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease Related symptoms: Autosomal[mendelian.co]
[…] with microdontia- dental pulp stones- and narrowed zygomatic arch Not supplied.[checkorphan.org]
Both patients had additional clinical manifestations such as narrowing of the zygomatic arch, dental pulp stone, microdontia of a mandibular permanent central incisor, cone-shaped epiphyses of middle phalanges of fingers, and absence of scaphoid, trapezium[ncbi.nlm.nih.gov]
Mutation analysis of NOG and ROR2, the genes responsible for proximal symphalangism and brachydactyly type B, respectively, was negative. [1] References A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp[wikigenes.org]
Microdontia of a single tooth can be further classified into (1) microdontia of the whole tooth, (2) microdontia of the crown of the tooth, and (3) microdontia of the root alone [ 4 ].[head-face-med.biomedcentral.com]
Deficiency Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardationsyndrome Craniofaciofrontodigital Syndrome Deafness With Labyrinthine Aplasia, Microtia, And Microdontia[familydiagnosis.com]
Overview Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch: A very rare syndrome characterized mainly by smallteeth, underdeveloped wrist bones and fusion of the joints in the ends of the fingers.[checkorphan.org]
The term microdontia (microdentism, microdontism) is defined as the condition of having abnormally smallteeth [ 1 ].[head-face-med.biomedcentral.com]
HP:0010239 4 chess-pawn distal phalanges 60 33 Occasional (29-5%) HP:0006170 5 scoliosis 60 Frequent (79-30%) 6 abnormal vertebral morphology 60 Occasional (29-5%) 7 broad thumb 60 Occasional (29-5%) 8 abnormality of the nail 60 Occasional (29-5%) 9 platyspondyly[malacards.org]
[…] back pain, broad metatarsal, wide long bone of foot, broad thumb, bulbous tips of toes, camptodactyly (permanent flexion of the finger or toe), epicanthus (eye folds), intervertebral disc degeneration, large iliac wings, large tarsal bones, oval face, platyspondyly[xpertdox.com]
[…] pupillae Enlarged joints Metaphyseal cupping Spondylometaphyseal dysplasia Cone dysfunction syndrome Narrow greater sacrosciatic notches Abnormality of macular pigmentation Decreased hip abduction Coarse facial features Cupped ribs Enchondroma Severe platyspondyly[mendelian.co]
) 7 broad thumb 60 Occasional (29-5%) 8 abnormality of the nail 60 Occasional (29-5%) 9 platyspondyly 60 Occasional (29-5%) 10 epicanthus 60 Occasional (29-5%) 11 large iliac wings 60 Occasional (29-5%) 12 metatarsus adductus 60 Frequent (79-30%) 13 back[malacards.org]
Other clinical features may include backpain, broad metatarsal, wide long bone of foot, broad thumb, bulbous tips of toes, camptodactyly (permanent flexion of the finger or toe), epicanthus (eye folds), intervertebral disc degeneration, large iliac wings[xpertdox.com]
Utilize the very latest approaches in hip surgery including hip resurfacing, hip preservation surgery, and treatment of hippain in the young adult; and get the latest information on metal-on-metal hips so you can better manage patients with these devices[books.google.com]
Five members of a kindred with brachydactyly and distal symphalangism, normalstature, pes cavus, and scoliosis were ascertained. The pedigree was consistent with autosomal dominant inheritance.[ncbi.nlm.nih.gov]
Several manifestations of distal symphalangism were observed, including the lack of cutaneous creases over affected joints, brachydactyly, fourth-finger hypophalangism, absentnails, and rudimentary nails.[ncbi.nlm.nih.gov]
Several manifestations of distal symphalangism were observed, including the lack of cutaneous creases over affected joints, brachydactyly, fourth-finger hypophalangism, absentnails, and rudimentary nails.[ncbi.nlm.nih.gov]
Yet, the existing medical literature on arthrogryposis is sparse and often confusing.[books.google.com]
When a child has a stiff finger with poorly discernible volar skin crease and showing a definite joint space of the involved joint in radiographs, there may be some confusion about diagnosis. Grade of symphalangism in simple radiographs.[pc.ecios.org]
"Regarding the article Carpal confusion: is well-intentioned surgery enough?" J Hand Surg Br 26(3): 275-276. Trail, I. A. (2002). "Re: Biomechanical assessment of a new type of flexor tendon repair." J Hand Surg Br 27(2): 206; author reply 206-207.[upperlimb.wrightington.com]
Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
Treatment - Symphalangism- distal- with microdontia- dental pulp stones- and narrowed zygomatic arch Not supplied. Resources - Symphalangism- distal- with microdontia- dental pulp stones- and narrowed zygomatic arch Not supplied.[checkorphan.org]
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]
Type I small thumb: no treatment. Type II adduction, floppy, normal skeleton. Treatment reconstruction Type IIIA musculotendinous deficiencies, intact CMC joint. Treatment reconstruction Type IIIB no CMC joint. IV MC aplasia.[eorif.com]
Prognosis - Symphalangism- distal- with microdontia- dental pulp stones- and narrowed zygomatic arch Not supplied. Treatment - Symphalangism- distal- with microdontia- dental pulp stones- and narrowed zygomatic arch Not supplied.[checkorphan.org]
Prognosis Isolated BD generally has an excellent prognosis. When BD is associated with other health problems or is part of another condition, the overall prognosis depends upon the nature of the associated condition.[encyclopedia.com]
Patients have excellent prognosis and low risk of recurrence. Deformation: Pterigium include limb deformities, shortening, rings, compression, absent patella, dislocated radial head and the grooves.[medicaldb.blogspot.com]
They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
Syndrome may be associated with amniotic bands, but etiology sindactiliei sindactilia is different. Joanna Kotcher Fuller, Fitzgerald, Herbert Kaufer, Arthur L.[1news.mobi]
In school, we all learned the three etiologies of hammertoes: extensor substitution, flexor substitution and flexor stabilization. Based on those theories, we learned a surgical algorithm.[podiatrytoday.com]
Syndrome may be associated with amniotic bands, but etiology sindactiliei sindactilia is different. Wednesday, June 1, Sindactilie.[ppba.club]
Both genetic and environmental factors are involved in the complex etiology of microdontia. Genetic factors probably play a role in the formation of microdontia.[head-face-med.biomedcentral.com]
Relevant External Links for NOG Genetic Association Database (GAD) NOG Human Genome Epidemiology (HuGE) Navigator NOG Atlas of Genetics and Cytogenetics in Oncology and Haematology: NOG No data available for Genatlas for NOG Gene Identical mutations in[genecards.org]
Etiology and Epidemiology Clinodactyly Clinodactyly by definition is 10 degrees of digital deviation in the radioulnar plane. This is usually due to abnormal bony anatomy.[musculoskeletalkey.com]
In: 2015 Annual Meeting of the International Genetic Epidemiology Society. 2015, Maryland, USA: John Wiley & Sons, Inc.[ncl.ac.uk]
ANZ Journal of Surgery 80 (1‐2), 82-90 Socioeconomic deprivation and the epidemiology of carpal tunnel syndrome. PJ Jenkins, AC Watts, AD Duckworth, JE McEachan.[upperlimb.wrightington.com]
Surgery may be performed in rare cases when the condition causes extreme functional impairments or for cosmetic purposes; however, surgical outcomes are predominantly poor. 1,2,3 Pathophysiology Symphalangism is typically transmitted as an autosomal dominant[handsurgeryresource.com]
Prevention - Symphalangism- distal- with microdontia- dental pulp stones- and narrowed zygomatic arch Not supplied. Diagnosis - Symphalangism- distal- with microdontia- dental pulp stones- and narrowed zygomatic arch Not supplied.[checkorphan.org]
Most commonly, it refers to an ankylosis (bony union) or fibrous tissue union of the finger bones preventing finger motion. It can be nonhereditary or it can be hereditary. Nonhereditary symphalangism occurs without known family history.[congenitalhand.wustl.edu]
Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]
Early diagnosis and treatment of patients with supernumerary teeth are important to prevent or minimize complications.[head-face-med.biomedcentral.com]