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]

• Pain

  Bandcamp New & Notable Feb 28, 2019 go to album Indifferent Rivers Romance End by Wreck and Reference Wreck and Reference expand on their metal base to deliver a masterfully-wrought album of pain and desperation. [nokorra.bandcamp.com]

  Total More information Patient Medical History Cardiovascular Abnormal Electrocardiogram Aortic Stenosis Atrial fibrillation Cardiac arrest Chest pain Congestive heart failure Heart valve replacement Hypertension Murmur Heart attack Palpitations Peripheral [docplayer.net]

• Joint Dislocation

  dislocations, GPAPP type Chondrodysplasia, Blomstrand type Choroideremia Chrondrodysplasia, acromesomelic, with genital anomalies Chudley-McCullough syndrome Club foot Cockayne syndrome CODAS syndrome Coffin-Siris syndrome, SMARCE1 related Cold-induced [qlinics.com]

  dislocations, GPAPP type IMPAD1 Chondrodysplasia, Blomstrand type PTH1R Choroideremia CHM Chrondrodysplasia, acromesomelic, with genital anomalies BMPR1B Chudley-McCullough syndrome GPSM2 Club foot PITX1 Cockayne syndrome type A ERCC8 Cockayne syndrome [centogene.com]

  bilateral Congenital elbow dislocation, unilateral Congenital genu flexum Congenital genu recurvatum Congenital heart defect-round face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation [se-atlas.de]

  PANELES: ACP5 Spondyloenchondrodysplasia with immune dysregulation B3GALT6 Ehlers-Danlos syndrome, Spondyloepimetaphyseal dysplasia with joint laxity CANT1 Desbuquois dysplasia CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations (recessive [genda.com.ar]

• Fracture

  […] type Spondyloepiphyseal dysplasia, MacDermot type Spondyloepiphyseal dysplasia, Maroteaux type Spondyloepiphyseal dysplasia, Nishimura type Spondyloepiphyseal dysplasia, Reardon type Spondylometaphyseal dysplasia Spondylometaphyseal dysplasia, 'corner fracture [se-atlas.de]

  […] folate sensitive MTRR Split-hand/foot malformation type 1 with sensorineural hearing loss DLX5 Split-hand/foot malformation type 6 WNT10B Spondylocostal dysostosis type 5 TBX6 Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures [centogene.com]

• 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]

• Skin Lesion

  Patil SJ, Ponnala R, Shah S, Dalal A .Mosaic Trisomy 9 Presenting with Congenital Heart Disease, Facial Dysmorphism and Pigmentary Skin Lesions: Intricate Issues of Genetic Counseling. Indian J Pediatr 2012;79(6):806-9. Padma Priya T, Dalal AB. [cdfd.org.in]

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 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 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]

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]