# Congenital limb and hand anomalies

**Type:** Topics  
**Canonical URL:** https://scholariq.org/topics/congenital-limb-and-hand-anomalies/

## Facts

| Field | Value |
| --- | --- |
| Description | This cluster of papers focuses on genetic and developmental studies of congenital limb anomalies, including polydactyly, syndactyly, and other malformations. It explores the genetic heterogeneity, mutations in CBP and EP300 genes, disruptions in Shh regulatory elements, upper extremity development, embryology, various classification systems, and epidemiological aspects related to limb anomalies. |
| Domain | Life Sciences |
| Field | Biochemistry, Genetics and Molecular Biology |
| OpenAlex ID | t13107 |
| Works | 35 |

## Topic papers all

Showing 15 of 35.

- [Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP](https://scholariq.org/papers/rubinstein-taybi-syndrome-caused-by-mutations-in-the-transcriptional-co/)
- [Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease](https://scholariq.org/papers/genetic-heterogeneity-in-rubinstein-taybi-syndrome-mutations-in-both-the-cbp-and/)
- [SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)](https://scholariq.org/papers/shox-mutations-in-dyschondrosteosis-leri-weill-syndrome/)
- [The epidemiology of radial head fractures](https://scholariq.org/papers/the-epidemiology-of-radial-head-fractures/)
- [LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome](https://scholariq.org/papers/lrp4-mutations-alter-wnt-catenin-signaling-and-cause-limb-and-kidney/)
- [Tamoxifen treatment for precocious puberty in McCune-Albright syndrome: a multicenter trial](https://scholariq.org/papers/tamoxifen-treatment-for-precocious-puberty-in-mccune-albright-syndrome-a/)
- [Chromosomal mosaicism mitigates stigmata and cardiovascular risk factors in Turner syndrome](https://scholariq.org/papers/chromosomal-mosaicism-mitigates-stigmata-and-cardiovascular-risk-factors-in/)
- [Syndromes associated with deletion of the long arm of chromosome 18\[del(18q)\]](https://scholariq.org/papers/syndromes-associated-with-deletion-of-the-long-arm-of-chromosome-18-del-18q/)
- [Conjugated Oral versus Transdermal Estrogen Replacement in Girls with Turner Syndrome: A Pilot Comparative Study](https://scholariq.org/papers/conjugated-oral-versus-transdermal-estrogen-replacement-in-girls-with-turner/)
- [Rubinstein‐Taybi syndrome medical guidelines](https://scholariq.org/papers/rubinstein-taybi-syndrome-medical-guidelines/)
- [Predictive Model for Congenital Muscular Torticollis: Analysis of 1021 Infants With Sonography](https://scholariq.org/papers/predictive-model-for-congenital-muscular-torticollis-analysis-of-1021-infants/)
- [KMT2C/D COMPASS complex-associated diseases \[KCDCOM-ADs\]: an emerging class of congenital regulopathies](https://scholariq.org/papers/kmt2c-d-compass-complex-associated-diseases-kcdcom-ads-an-emerging-class-of/)
- [Percutaneous Screw Fixation for Scaphoid Fracture: A Comparison Between the Dorsal and the Volar Approaches](https://scholariq.org/papers/percutaneous-screw-fixation-for-scaphoid-fracture-a-comparison-between-the/)
- [Avian tibial dyschondroplasia as a cause of bone deformity](https://scholariq.org/papers/avian-tibial-dyschondroplasia-as-a-cause-of-bone-deformity/)
- [Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and <i>de novo</i> duplication 3q26.32‐q27.2](https://scholariq.org/papers/comprehensive-review-of-the-duplication-3q-syndrome-and-report-of-a-patient-with/)

## Topic primary papers

- [Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP](https://scholariq.org/papers/rubinstein-taybi-syndrome-caused-by-mutations-in-the-transcriptional-co/)
- [Genetic Heterogeneity in Rubinstein-Taybi Syndrome: Mutations in Both the CBP and EP300 Genes Cause Disease](https://scholariq.org/papers/genetic-heterogeneity-in-rubinstein-taybi-syndrome-mutations-in-both-the-cbp-and/)
- [LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome](https://scholariq.org/papers/lrp4-mutations-alter-wnt-catenin-signaling-and-cause-limb-and-kidney/)
- [Rubinstein‐Taybi syndrome medical guidelines](https://scholariq.org/papers/rubinstein-taybi-syndrome-medical-guidelines/)
- [Rubinstein–Taybi syndrome in children with tethered spinal cord](https://scholariq.org/papers/rubinstein-taybi-syndrome-in-children-with-tethered-spinal-cord/)
- [Children with congenital limb deficiency in Norway: issues related to school life and health-related quality of life. A cross-sectional study](https://scholariq.org/papers/children-with-congenital-limb-deficiency-in-norway-issues-related-to-school-life/)
- [V-Y and rectangular flap combination for syndactyly repair](https://scholariq.org/papers/v-y-and-rectangular-flap-combination-for-syndactyly-repair/)
- [Health-related quality of life in adults with congenital unilateral upper limb deficiency in Norway. A cross-sectional study](https://scholariq.org/papers/health-related-quality-of-life-in-adults-with-congenital-unilateral-upper-limb/)
- [Education and work participation among adults with congenital unilateral upper limb deficiency in Norway: A cross-sectional study](https://scholariq.org/papers/education-and-work-participation-among-adults-with-congenital-unilateral-upper/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.