Edit concept Question Editor Create issue ticket

Proximal Symphalangism

Symphalangism Type Cushing


  • Her mother had both symphalangism (absence of proximal interphalangeal joints) of middle, ring, and little fingers bilaterally and fixed pes planus with a rigid fixed hindfoot-and these deformities had also been present from birth.[ncbi.nlm.nih.gov]
  • Main Outcome Measures/Results: Long-term audiometric data are presented to evaluate the outcome of the surgical interventions.[journals.lww.com]
  • This mutation co-segregates with the phenotype in the family and is not present in the 200 control individuals. The c.499C T mutation is predicted to change the conserved amino acid arginine at codon 167 to cysteine at the protein level.[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]
  • Email: supriyabisht07@gmail.com A 14 months old boy presented with limitations of movement in his index, middle and ring fingers of both hands since birth.[pediatriconcall.com]
  • The SLAC wrist: scapholunate advanced collapse pattern of degenerative Arthritis. J Hand Surg [Am] 1984: 9-A:358-65. ‎ Seite 308 - Arnett FC, Edworthy SM, Bloch DA. McShane DJ, Fries JF, Cooper NS, Healey LA, Kaplan SR, Liang MH, Luthra HS.[books.google.de]
Severe Pain
  • At the age of 36, she developed severe pain and swelling of the toe base of both feet and underwent Clayton surgery. However, the size of her toes diminished progressively over the 5-year period after surgery.[ncbi.nlm.nih.gov]
  • Abstract Proximal symphalangism, or Cushing symphalangism (MIM 185800), is an autosomal dominant disorder characterized by ankylosis of the proximal interphalangeal joints.[ncbi.nlm.nih.gov]
  • Proximal symphalangism is an autosomal-dominant disorder with ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.[ncbi.nlm.nih.gov]
  • Term Name: proximal symphalangism Search Ontology: Synonyms: Cushing's symphalangism Definition: An autosomal dominant disease that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness[zfin.org]
  • (p. 381) NOG and Proximal Symphalangism (SYM1), Multiple Synostosis (SYN1), Tarsal-Carpal Coalition, and Isolated Stapes Ankylosis Chapters provides overview of pathways of development and reviews of dysmorphic syndromes for which the causative gene has[oxfordmedicine.com]
  • Conclusions: Congenital stapes ankylosis eventually combined with a congenital fixation of the short process of the incus in the fossa incudis, causing the congenital conductive hearing loss.[journals.lww.com]
Unable to Make a Fist
  • These individuals usually have straight fingers and are unable to make a fist. Other joints may also be affected, leading to stiff joints in the elbows, ankles and wrists.[rarediseases.info.nih.gov]


  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]
  • Babies with birth defects often need special care and treatments. The treatments may include surgery, medicines, assistive devices, and therapies. Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.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]


  • PMID: 14753748 Prognosis McQuillan TJ, Hawkins JE, Ladd AL J Hand Surg Am 2017 Sep;42(9):749.e1-749.e7. Epub 2017 Jun 23 doi: 10.1016/j.jhsa.2017.05.011.[ncbi.nlm.nih.gov]
  • 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]
  • PMID: 14745921 Prognosis Costa FW, Rodrigues RR, Batista AC, Ribeiro TR, Pereira KM J Endod 2012 Dec;38(12):1639-43. Epub 2012 Aug 9 doi: 10.1016/j.joen.2012.06.031.[ncbi.nlm.nih.gov]


  • Etiology proximal symphalangism (SYM1) and multiple-synostoses syndrome (SYNS1) are caused by mutations in NOG, the gene encoding noggin autosomal dominant stapes ankylosis with broad thumbs and toes, hyperopia, and skeletal anomalies are caused by mutations[humpath.com]
  • [from HPO ] Multiple synostoses syndrome 2 MedGen UID: 331348 • Concept ID: C1832708 • Disease or Syndrome Etiology Plast Reconstr Surg 2018 Oct;142(4):963-971. doi: 10.1097/PRS.0000000000004798.[ncbi.nlm.nih.gov]
  • Syndrome may be associated with amniotic bands, but etiology sindactiliei sindactilia is different. Aperta syndrome: Aperta or acrocefalosindactilia syndrome is a rare anomaly.[medicaldb.blogspot.com]
  • Risk of recurrence depends on the etiology and progression. Derived extrinsic contractures are associated with abnormal limb position, large ears, skin and lack of excessive or normal flexion.[medicaldb.blogspot.com]
  • Etiology Dermatol Online J 2015 Jan 15;21(1) PMID: 25612123 Usami S, Abe S, Nishio S, Sakurai Y, Kojima H, Tono T, Suzuki N Clin Genet 2012 Dec;82(6):514-20. Epub 2012 Jan 30 doi: 10.1111/j.1399-0004.2011.01831.x.[ncbi.nlm.nih.gov]


  • 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]
  • […] separation of the distal radius and ulna for a time the proximal radius and ulna are united and share a common perichondrium abnormal genetic or teratogenic factors operating at this time would interfere with proximal radioulnar joint morphogenesis Epidemiology[gait.aidi.udel.edu]
Sex distribution
Age distribution


  • Centers for Disease Control and Prevention Intersex (Medical Encyclopedia) [ Read More ][icdlist.com]
  • By binding tightly to BMPs, Noggin prevents BMPs from binding their receptors.[sinobiological.com]
  • Please prevent freeze-thaw cycles. Concentration information loading... Stability and Storage Shipped at 4 C. Upon delivery aliquot. Store at -80 C. Avoid freeze / thaw cycle.[abcam.com]
  • In addition, any transverse bones should be removed to prevent widening of the cleft, and finger deformities may be treated with rotation osteotomy. Fig. 9.9 Severe split hand, with markedly diminished ossification.[radiologykey.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!