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]

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]

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]

• Broad Thumb

  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 (SYNS1) 186500 [nature.com]

  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 pain [malacards.org]

  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]

  Other clinical features may include 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 [xpertdox.com]

• Single Transverse Palmar Crease

  22 broad foot 33 HP:0001769 23 single transverse palmar crease 33 HP:0000954 24 camptodactyly 60 Occasional (29-5%) 25 short middle phalanx of finger 60 Frequent (79-30%) 26 broad metatarsal 60 Occasional (29-5%) 27 oval face 60 Occasional (29-5%) 28 [malacards.org]

  transverse palmar creases, broad feet, distal symphalangism of hands, fused outermost bones of hand, short 1st metacarpal, single transverse palmar crease, tall stature (increased body height), thoracolumbar scoliosis & type a1 brachydactyly. [xpertdox.com]

  Diseases related with Arthritis and Single transverse palmar crease In the following list you will find some of the most common rare diseases related to Arthritis and Single transverse palmar crease that can help you solving undiagnosed cases. [mendelian.co]

• Nail Abnormality

  […] curving of the spine), short middle phalanx of finger, abnormality of the nail, 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 nail abnormalities, ectodermal dysplasia, absent dermatoglyphic pattern, changes in nails, and simian crease Related symptoms: Autosomal [mendelian.co]

• Soft Tissue Swelling

  Moderate joint space loss of the carpus with soft tissue swelling is evident. Shortened 4th and 5th metacarpals and drumstick distal phalanges are consistent with Turner syndrome. [rrnursingschool.biz]

• Microdontia

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

  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]

  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]

• 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]

• Back Pain

  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 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 [xpertdox.com]

• Normal Stature

  Five members of a kindred with brachydactyly and distal symphalangism, normal stature, pes cavus, and scoliosis were ascertained. The pedigree was consistent with autosomal dominant inheritance. [ncbi.nlm.nih.gov]

• Bone Pain

  […] of long bone, hyperostosis, bone pain 245, 246 Smad3 Aneurysms osteoarthritis (AOS) 613795 Mild craniofacial feature, skeletal anomalities, osteoarthritis 15, 60, 61 [nature.com]

• 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]

• Forgetful

  Never forget: Great power brings great responsibility. You can make mistakes, as long as you try to correct them. As you click the edit button you will find yourself in the visual mode. [wikicure.fandom.com]

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

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]

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]