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]

Although rudimentary proximal interphalangeal (PIP) joint is present, clinically this joint is stiff. In ring, long, and index fingers, no PIP joint is present, and symphalangism is present between middle and proximal phalanges. [emedicine.medscape.com]

Presentation of Symphalangism The congenital stiffness of the digits is the main presentation. The disorder is characterized by a lack of motion of the affected joint in the finger. [boneandspine.com]

Clinodactyly and Camptodactyly CASE PRESENTATION A 6-month-old infant presents with bilateral flexion contractures of the small finger proximal interphalangeal (PIP) joints: 30 degrees on the left and 60 degrees on the right by passive exam. [musculoskeletalkey.com]

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]

• Short Finger

  59 Occasional (29-5%) 18 camptodactyly of finger 32 HP:0100490 19 short finger 59 Occasional (29-5%) 20 tall stature 32 HP:0000098 21 short 1st metacarpal 32 HP:0010034 22 broad foot 32 HP:0001769 23 single transverse palmar crease 32 HP:0000954 24 camptodactyly [malacards.org]

  Signs and symptoms : Signs and symptoms may include chess-pawn distal phalanges, camptodactyly of finger (permanent flexion of the finger), pes cavus (high-arched foot), brachydactyly (short fingers or toes), aplasia of the middle phalanx of the hand [xpertdox.com]

  Deletion anomalies include limb malformations, radioulnara synostosis, sindactilie and short fingers. Vasculaturii anomalies and hemangiomas can cause cutis skin mottled, distal limbs may be blue and cold. [medicaldb.blogspot.com]

• Disability

  Medicine Clinical orthopaedics and related research 1999 A comparison of these cases with those published in the literature indicates that although the radiologic appearance of symphalangism appears disabling, the fused phalanges seldom cause disability [semanticscholar.org]

  " (Technology Related Assistance for Individuals with Disabilities Act, 1988, Sta. ‏ [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]

  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]

• Weakness

  We diagnosed a family presenting with muscle weakness, joint stiffness and contractures, spinal rigidity, external ophthalmoplegia and restricted respiratory capacity with a novel mutation in the PIEZO2 gene. [nmd-journal.com]

  ARTHROGRYPOSIS, DISTAL, TYPE 1A; DA1A Is also known as arthrogryposis, distal, type 1;da1, arthrogryposis multiplex congenita, distal, type i;amcd1 Related symptoms: Autosomal dominant inheritance Scoliosis Cryptorchidism Muscle weakness Milia SOURCES [mendelian.co]

  […] potentially have life-threatening effects because of the underdeveloped muscles and spinal deformities already present. [1] Individuals with AMC may also be more susceptible to the respiratory depressant effects of anesthesia because of their muscle weakness [physio-pedia.com]

  Hypoplasia, hypoplastic diaphragm muscles weak or affect respiratory function. Deletion anomalies include limb malformations, radioulnara synostosis, sindactilie and short fingers. [medicaldb.blogspot.com]

• Surgical Procedure

  For some individuals, treatment may include corrective surgical procedures. The specific surgical procedures depend upon the nature, severity and location of the anatomical abnormalities. [xpertdox.com]

  Sindactilia time in children may indicate surgical procedures at the age of months. Expansion may be even more severe damage with a complete soft tissue fusion in combination with amputated fingers. [ppba.club]

  Sindactilia time in children may indicate surgical procedures at the age of months. [prognoz-na-sport.info]

  Sindactilia time in children may indicate surgical procedures at the age of 5-6 months. Intervention before that age increases the risk of anesthesia. Before that age are not required intervention if there are no problems. [medicaldb.blogspot.com]

  Surgical Procedure After general anesthesia and pneumatic tourniquet application, a longitudinal or Z-plasty incision was made on the dorsum of the affected joint ( Fig. 2 ). [pc.ecios.org]

• Arachnodactyly

  One or More Digits), Acquired or Congenital D-137 Syndactyly (Soft Tissue Union, with or without Osseous Union, Between Adjacent Digits) D-138-1 Polydactyly (Preaxial - Radial Side) D-138-2 Polydactyly (Postaxial - Ulnar Side) D-139 Macrodactyly D-140 Arachnodactyly [gamuts.isradiology.org]

  Beal arachnodactyly is another syndrome that has associated PIP joint flexion contractures. Marfan syndrome has PIP joint flexion posturing. The extreme form of a flexion contracture at the PIP joint is symphalangism. [musculoskeletalkey.com]

  Synostosis of carpal bones Neonatal hypotonia High, narrow palate Small nail Finger syndactyly Small for gestational age Brachydactyly Generalized hypotonia Broad foot Spinal canal stenosis Muscle weakness Hyperhidrosis Fatigue Hernia Arthralgia Joint laxity Arachnodactyly [mendelian.co]

  […] other arthrogryposis types, and approximately 150 other syndromes where stiff joints are a part of the phenotype. [13] Some examples of possible differential diagnoses are as follows: [13] Bony Fusion (symphalangism, coalition, synostosis) Contractural arachnodactyly [physio-pedia.com]

• Heart Disease

  Chromosomal Imbalances in Patients with Congenital Cardiac Defects: A Meta-analysis Reveals Novel Potential Critical Regions Involved in Heart Development. Congenital Heart Disease 2015, 10 (3), 193-208. [ncl.ac.uk]

• Microdontia

  […] with microdontia- dental pulp stones- and narrowed zygomatic arch Not supplied. [checkorphan.org]

  A Thai mother and son with distal symphalangism, hypoplastic carpal bones, microdontia, dental pulp stones, and narrowing of the zygomatic arch: a new distal symphalangism syndrome? P. KantaputraA. KinoshitaChanin LimwongesOranud PraditsupN. [semanticscholar.org]

  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]

  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]

• Small Teeth

  Overview Symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch: A very rare syndrome characterized mainly by small teeth, 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 small teeth [ 1 ]. [head-face-med.biomedcentral.com]

• Brachydactyly

  Defects in NOG are the cause of brachydactyly type B2 (BDB2) [MIM:611377]. [abcam.com]

  The combination of clinical and radiological features is believed to be distinct from those previously reported in patients with brachydactyly/symphalangism. [ncbi.nlm.nih.gov]

  Human phenotypes related to Brachydactyly-Distal Symphalangism Syndrome: 59 32 (show all 35) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 pes cavus 59 32 Very frequent (99-80%) HP:0001761 2 flat acetabular roof 59 32 Frequent [malacards.org]

  Acvr1 Fibrodysplasia ossificans progressive (FOP) 135000 Ectopic bone formation 91, 92, 231, 232, 233 Bmp2 Brachydactyly type A2 (BDA2) 112600 Hypoplasia of finger 239 Bmpr1b Brachydactyly type A2 (BDA2) 112600 Hypoplasia of finger 235, 236 Gdf5 Brachydactyly [nature.com]

  Other names of the condition : Brachydactyly-distal symphalangism syndrome [xpertdox.com]

• Ankylosis

  Defects in NOG are a cause of stapes ankylosis with broad thumb and toes (SABTS) [MIM:184460]; also known as Teunissen-Cremers syndrome. [abcam.com]

  […] with broad thumbs and toes 184460 Stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies 244 Segregating proximal symphalangism (SYM1) 185800 Multiple joint fusion of distal bones 138 Segregating multiple synostoses syndrome [nature.com]

  Bilateral symphalangism affecting the first to fourth toes with ankylosis of the proximal interphalangeal joints. Case Discussion Symphalangism refers to the ankylosis of interphalangeal joints of the toes or fingers. [radiopaedia.org]

  In all cases, this was associated with ankylosis of the distal interphalangeal joint of the second through fifth toes. One child in the family also had brachyphalangism bilaterally as well as a bifid distal phalanx of the thumb. [ncbi.nlm.nih.gov]

  Symphalangism was first described by Harvey Cushing in 1916, when he identified a family in which 27% (84/313) of those examined exhibited dominantly inherited ankylosis of the IP joints of the hand. [handsurgeryresource.com]

• Fracture

  "Is conservative treatment of displaced tibial shaft fractures justified?" J Bone Joint Surg Br 66(1): 84-88. Handoll, H. H. and A. C. Watts (2008). "Bone grafts and bone substitutes for treating distal radial fractures in adults." [upperlimb.wrightington.com]

  See how to proceed better than ever before with 45 surgical videos demonstrating hip revision, patellar tendon allograft preparation, open reduction internal fixation clavicle fracture, total shoulder arthroplasty, total elbow arthroplasty, and more - [books.google.com]

  Cited by Proximal interphalangeal-level fracture in patient with symphalangism. Pan T, Hoang D, Payatakes A. Pan T, et al. Case Reports Plast Surg Hand Surg. 2022 Sep 28;9(1):214-219. doi: 10.1080/23320885.2022.2123808. eCollection 2022. [pubmed.ncbi.nlm.nih.gov]

  The xray revealed a small fracture in the knuckle of his pinkie finger. [justanswer.com]

  A member may be fractured during trauma delivrentei to 10% of cases. Check abnormal placental membranes or umbilical insertion in cases involving amniotic bands or vascular disease. [medicaldb.blogspot.com]

• Joint Dislocation

  We are looking for this hiperextensibilitatii, dislocated joints, dislocated hip and foot flat on other family members. It detects a high incidence for people with degree artrogripoza near the patient. [medicaldb.blogspot.com]

  2013 - actaorthopaedica.be Reconstruction of chronic anterior sternoclavicular joint dislocations using a Palmaris longus autograft. [upperlimb.wrightington.com]

• Hip Dislocation

  dislocation Tarsal coalitions (particularly talonavicular synostosis) Congenital fusion of the cervical or thoracic spine Differential Diagnosis Arthrogryposis [handsurgeryresource.com]

  hip dislocation Elbow flexion contracture Abnormality of the foot Talipes Arthrogryposis multiplex congenita Hip dislocation Paresthesia Chorioretinal dysplasia Macroglossia Myopia Malar flattening Abnormality of the skeletal system Blindness Cardiomyopathy [mendelian.co]

• Absent Nails

  Several manifestations of distal symphalangism were observed, including the lack of cutaneous creases over affected joints, brachydactyly, fourth-finger hypophalangism, absent nails, and rudimentary nails. [ncbi.nlm.nih.gov]

• Blister

  […] and facial milia, adult traumatic blistering and fissuring, absent or reduced sweating of palms and soles, and contracture of digits. [mendelian.co]

• Aggressive Behavior

  […] hand polydactyly Urinary incontinence Sacral dimple Nephritis Short philtrum Specific learning disability Poor speech Tapered finger Bulbous nose Synophrys Attention deficit hyperactivity disorder Anxiety Athetosis Abnormality of the pinna Retinopathy Aggressive [mendelian.co]

• Narrow Face

  […] bridge Thoracic platyspondyly Infantile onset Congenital cataract Wide nasal bridge High palate Cryptorchidism Long face Distal femoral bowing Lumbar scoliosis Skull asymmetry Proximal femoral epiphysiolysis Short fourth metatarsal Narrow pelvis bone [mendelian.co]

• Paresthesia

  Trismus Hip contracture Rocker bottom foot Metatarsus adductus Narrow mouth Adducted thumb Knee flexion contracture Congenital hip dislocation Elbow flexion contracture Abnormality of the foot Talipes Arthrogryposis multiplex congenita Hip dislocation Paresthesia [mendelian.co]

Treatment Centers[] Please add treatment centers available. Include contacts. Link any mentions you make to the online source if available. [wikicure.fandom.com]

The treatment is directed toward alleviation of specific symptoms that are present in each individual. [xpertdox.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]

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]

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 - 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]

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]

Syndrome may be associated with amniotic bands, but etiology sindactiliei sindactilia is different. Wednesday, June 1, Sindactilie. [ppba.club]

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]

Community Dentistry and Oral Epidemiology. 1987, 15: 218-20. 10.1111/j.1600-0528.1987.tb00524.x. [head-face-med.biomedcentral.com]

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]