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Mesoaxial Synostotic Syndactyly with Phalangeal Reduction


Presentation

  • 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]
  • In the present study, we have investigated a family segregating mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) in autosomal recessive manner.[ncbi.nlm.nih.gov]
  • Acronym MSSD Synonyms Mesoaxial synostotic syndactyly, Malik-Percin type Syndactyly, Malik-Percin type Syndactyly, type IX Any medical or genetic information present in this entry is provided for research, educational and informational purposes only.[uniprot.org]
  • Several multiple malformation syndromes where hand and/or foot syndactyly are present have been described in the scientific literature.[link.springer.com]
Turkish
  • We identified another published report of this phenotype in a large, inbred Turkish family. In the present study we mapped the phenotype in the Pakistani and Turkish families to chromosome 17p13.3 (multipoint LOD score 5.1).[ncbi.nlm.nih.gov]
  • MethodsFifty-four patients with MDD who received citalopram and 70 controls from the Turkish population were genotyped for ABCB1 C3435T polymorphism.[scipers.com]
  • First linkage was reported to chromosome 2q31 in a large Turkish family (Sarfarazi et al. 1995). Polyalanine tract expansion mutations in the homeobox containing gene HOXD13 have been described for SPD (Muragaki et al. 1996).[en.youscribe.com]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
Single Transverse Palmar Crease
  • transverse palmar crease 0000954 Symphalangism affecting the phalanges of the hallux Fused big toe bones 0010064 Showing of 19 Last updated: 5/1/2019 If you need medical advice, you can look for doctors or other healthcare professionals who have experience[rarediseases.info.nih.gov]
Tachycardia
  • J. (1999) [ Pubmed ] Alterations of heart rate and of heart rate variability after radiofrequency catheter ablation of supraventricular tachycardia. Delineation of parasympathetic pathways in the human heart.[wikigenes.org]
Carpal Bone Fusion
  • bones Fusion of wrist bones 0005048 Percent of people who have these symptoms is not available through HPO 3-4 finger syndactyly Webbed 3rd-4th fingers 0006097 Aplasia/Hypoplasia of the hallux Absent/small big toe Absent/underdeveloped big toe [ more[rarediseases.info.nih.gov]
Suggestibility
  • SELECTED GENES FOR YOUR SLICE SUGGESTED CUSTOM SLICES Customize below OR enter Suggested Slice ID on printed requisition form (e.g. 706 XomeDx Slice - Slice ID: CS-Albinism).[genedx.com]
  • ConclusionOur results suggested that C3435T polymorphism in the ABCB1 gene may be an indicator of the susceptibility to major depression, without a likely treatment response to citalopram in a Turkish population.[scipers.com]
  • The frequency of syndactyly varies in populations and a prevalence of 3 per 10,000 births has been suggested in a Latin-American study (Castilla et al. 1980). 1.1 Classification of syndactylies Roblot (1906) grouped syndactylies into syndromic and non-syndromic[en.youscribe.com]
  • Of those 3 million base pairs, estimates suggest, between 20 and 25 thousand genes are protein-coding genes.[dna.universeofatoms.com]
Distractibility
  • Web construction in complex syndactylies using soft tissue distraction. In: Ogino T, editor. Congenital differences of the upper limb. Kyoto: Yamagata University School of Medicine; 2000. p. 87–9. Google Scholar Knight SL, Kay SPJ.[link.springer.com]
Irritability
  • This resulted in poor fit of the glove and chronic irritation of web. Note radial deviation of small finger due to contracture from patient's first surgery. Web space was deepened with local flaps and full-thickness skin grafts from left groin.[emedicine.medscape.com]

Treatment

  • This persisted despite conservative treatment with topical steroid cream and scar massage. Contracture was present mostly along ring finger, causing tethering of distal ring finger with mild radial deviation.[emedicine.medscape.com]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • Dr Jane Hurst is a clinician working full time as a clinical geneticist in the one of the leading children's hospitals in the world; a centre of excellence for the diagnosis and treatment of rare diseases.[books.google.com]
  • 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]
  • Treatment of syndromic syndactyly needs to be accurately integrated within a plan tailored on each single patient, due to the coexistence of other associated anomalies whose treatment may take priority over syndactyly.[link.springer.com]

Etiology

  • Etiology The locus for this complex limb malformation was mapped to chromosome 17p13.3. Genetic counseling The condition is transmitted as an autosomal recessive trait.[rarediseases.info.nih.gov]

Epidemiology

  • Epidemiology It has been described in two families. Etiology The locus for this complex limb malformation was mapped to chromosome 17p13.3. Genetic counseling The condition is transmitted as an autosomal recessive trait.[rarediseases.info.nih.gov]
  • Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010).[centogene.com]
Sex distribution
Age distribution

Prevention

  • Categories M.D.C MDC Category Not Assigned For This ICD Code Q72.8 Medicare Severity-Diagnosis Related Groups MS-DRG MS-DRG Category Not Assigned For This ICD Code Q72.8 Clinical Classifications Software CCS CCS Category Not Assigned For This ICD Code Q72.8 Prevention[medicbind.com]

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