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]
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]
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]
[…] type 9 Syndactyly, Malik-Percin type Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy, Neonatal ICD-10: Q70.0 Q70.2 OMIM: 609432 UMLS: C1836206 MeSH: - GARD: 10590 MedDRA: - The documents contained in this web site are presented [orpha.net]
Entire Body System
- Amyloidosis
Tuberous sclerosis TSEN2 Pontocerebellar hypoplasia TSEN54 Pontocerebellar hypoplasia TTC7A Gastrointestinal defects and immunodeficiency syndrome TTC21B Asphyxiating thoracic dysplasia (ATD; Jeune), Nephronophthisis, Short-rib thoracic dysplasia TTR Amyloidosis [genda.com.ar]
Musculoskeletal
- Hand Deformity
Complex Camptosynpolydactyly is an autosomal recessive disorder characterized by complex hand deformities described earlier by us in a consanguineous family. We report on identification of mutations in BHLHA9 gene in this condition. [ncbi.nlm.nih.gov]
ISSN 1552-4825 Abstract Complex Camptosynpolydactyly is an autosomal recessive disorder characterized by complex hand deformities described earlier by us in a consanguineous family. [eprints.manipal.edu]
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]
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]
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]
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]
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]
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]